Clinical Cases in Adolescent Dermatology (Clinical Cases in Dermatology) 3030915255, 9783030915254

Table of contents :
Contents
Chapter 1: A 13 Years Old Female with Refractory Purpura
Discussion
References
Chapter 2: A 16-Year-Old Boy Developing Lesions on His Tattoo
Discussion
References
Chapter 3: A Boy with Reticular Lesions on His Waist and Back
Discussion
References
Chapter 4: A Disseminated Papulonodular Eruption in a 15-Year-Old Male with Aplastic Anemia
Discussion
References
Chapter 5: A Red Plaque on the Cheek in a 12-Year-Old Girl
Discussion
References
Chapter 6: A Teenager with Refractory Erythroderma
Discussion
References
Chapter 7: A Young Boy with Hyperpigmented and Hypopigmented Macules
Discussion
References
Chapter 8: Adolescent Female with Brown Papules and Peculiar Nails
Short Clinical History of the Patient
Discussion
References
Chapter 9: An Adolescent with Recurrent Eczematous Lesions
Discussion
Differential Diagnosis
References
Chapter 10: An Unusual Coincidence of Alopecia Areata with Trichotillomania in a Child with Osteogenesis Imperfecta
Discussion
References
Chapter 11: Deep Red Macules in a Blaschkoid Distribution in an Adolescent Male
Discussion
References
Chapter 12: Ecchymotic Lesions on the Left Foot in a 14-Year-Old Child
Discussion
Differential Diagnosis
References
Chapter 13: Erythema Annulare Centrifugum Mimicking Tinea Cruris on Child with Acute Myeloid Leukemia
Discussion
References
Chapter 14: Erythematous Plaques with Central Atrophy on Lower Limbs in Young Woman
Discussion
References
Chapter 15: Erythrodermic Psoriasis in Pediatric Age
Discussion
References
Chapter 16: Generalized Hypopigmented Macules and Verrucous Papules in Three Siblings
Discussion
References
Chapter 17: Generalized Molluscum Contagiosum in a Young Girl
Discussion
References
Chapter 18: Leprosy in Pediatric Age
Discussion
References
Chapter 19: Localized Acquired Alopecia over the Mental Area of Chin
Case Presentation
Diagnosis
Discussion
References
Chapter 20: Low-Birthweight Dwarfism with Features Include Cranio-Facial Disproportion, Facial Dysmorphia, Lateral Asymmetry and Clinodactyly
Clinical Story of the Patient
Discussion
References
Chapter 21: Multifocal Erythematous Plaques Complicated by Ulceration on the Face and Upper Extremities in a Child
Discussion
References
Chapter 22: Multiple Papular and Nodular Facial Lesions
Case Presentation
Diagnosis
Discussion
References
Chapter 23: Nail Dystrophy in a Teenager
Nail Dystrophy in a Teenager
Case Presentation
What Is your Diagnosis?
Diagnosis
Discussion
References
Chapter 24: Necrotic and Vesicular Lesions after Sun Exposure
Diagnosis
Diagnosis
Discussion
References
Chapter 25: Non-Pseudomonal Ecthyma Gangrenosum Resembling Pyoderma Gangrenosum on Malnourished Child with End Stage Renal Disease
Discussion
References
Chapter 26: Norwegian Scabies in Patient with Down Syndrome
Diagnosis
Discussion
References
Chapter 27: Painful Herpetiform Aphthous Ulcers in the Oral Mucosa in a 15-Year-Old Man
Short Clinical Story of the Patient
Diagnosis
Discussion [1–4]
References
Chapter 28: Painful, Violaceous, Woody Mandibular Nodule in a Healthy Teenager
Short Clinical Story of the Patient
Diagnosis
Discussions
References
Chapter 29: Skin Pigmentation at Angle of the Mouth
Case Presentation
Diagnosis
Discussion
References
Chapter 30: Subcutaneous Nodular Lesion of the Lumbar Area
Diagnosis
Discussion
Differential Diagnosis
Conclusions
References
Chapter 31: Tuberous Sclerosis Complex with Clinodactyly
Diagnosis
Discussion
References
Chapter 32: Vascular Lesion on the Hand
Introduction
Diagnosis
Discussion
References
Chapter 33: Vulvar Ulcers in a Young Girl
Diagnosis
Discussion
References
Index

Citation preview

Clinical Cases in Dermatology Series Editor: Robert A. Norman

Torello M. Lotti Fabio Arcangeli   Editors

Clinical Cases in Adolescent Dermatology

Clinical Cases in Dermatology Series Editor Robert A. Norman, Tampa, FL, USA

This series of concise practical guides is designed to facilitate the clinical decision-­ making process by reviewing a number of cases and defining the various diagnostic and management decisions open to clinicians. Each title is illustrated and diverse in scope, enabling the reader to obtain relevant clinical information regarding both standard and unusual cases in a rapid, easy to digest format. Each focuses on one disease or patient group, and includes common cases to allow readers to know they are doing things right if they follow the case guidelines. More information about this series at http://link.springer.com/series/10473

Torello M. Lotti  •  Fabio Arcangeli Editors

Clinical Cases in Adolescent Dermatology

Editors Torello M. Lotti Dermatology University of Rome “G.Marconi” Rome, Roma, Italy

Fabio Arcangeli University of Rome “G.Marconi” Rome, Italy

ISSN 2730-6178     ISSN 2730-6186 (electronic) Clinical Cases in Dermatology ISBN 978-3-030-91525-4    ISBN 978-3-030-91526-1 (eBook) https://doi.org/10.1007/978-3-030-91526-1 © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022 This work is subject to copyright. All rights are solely and exclusively licensed by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

Contents

1 A 13 Years Old Female with Refractory Purpura��������������������������������    1 Kenan Barut, Defne Özkoca, and Zekayi Kutlubay 2 A 16-Year-Old Boy Developing Lesions on His Tattoo ������������������������    5 Indrashis Podder, Debatri Datta, and George Kroumpouzos 3 A Boy with Reticular Lesions on His Waist and Back��������������������������    9 Bei-xue Jiang and Lin Dang 4 A Disseminated Papulonodular Eruption in a 15-Year-Old Male with Aplastic Anemia������������������������������������������������   13 Ana Sofia Pereira, Rebeca Calado, Joana Azevedo, and Leonor Ramos 5 A Red Plaque on the Cheek in a 12-Year-­Old Girl ������������������������������   17 Hong-Mei Zhou, Li-Hong Zhao, and Songmei Geng 6 A Teenager with Refractory Erythroderma������������������������������������������   21 Tong Zhou and Song-Mei Geng 7 A Young Boy with Hyperpigmented and Hypopigmented Macules�����������������������������������������������������������������   27 Jingang An and Songmei Geng 8 Adolescent Female with Brown Papules and Peculiar Nails����������������   33 Adelina-Maria Sendrea, Mariana Diana Tatomir, Sabina Andrada Zurac, Razvan Andrei, and Carmen Maria Salavastru 9 An Adolescent with Recurrent Eczematous Lesions����������������������������   41 Raffaele Brancaccio, Giuseppe Ruggiero, Stefano Belletti, and Vincenzo Patella

v

vi

Contents

10 An Unusual Coincidence of Alopecia Areata with Trichotillomania in a Child with Osteogenesis Imperfecta������������������   45 Cinthia C. D. Thamrin, Lili Legiawati, Larisa Paramitha Wibawa, Lis Surachmiati, and Irma Bernadette S. Sitohang 11 Deep Red Macules in a Blaschkoid Distribution in an Adolescent Male������������������������������������������������������������������������������   49 Sabha Mushtaq, Erdinc Terzi, and George Kroumpouzos 12 Ecchymotic Lesions on the Left Foot in a 14-Year-Old Child�������������   53 Cristina Malvasio, Giuseppe Ruggiero, and Fabio Arcangeli 13 Erythema Annulare Centrifugum Mimicking Tinea Cruris on Child with Acute Myeloid Leukemia������������������������������������   57 Irmadita Citrashanty, Yuri Widia, Sawitri, Iskandar Zulkarnain, and Made Putri Hendaria 14 Erythematous Plaques with Central Atrophy on Lower Limbs in Young Woman��������������������������������������������������������������������������   61 Valeria Evangelista, Annalucia Virdi, Giulia Veronesi, Miriam Leuzzi, and Iria Neri 15 Erythrodermic Psoriasis in Pediatric Age ��������������������������������������������   65 Sarah Diba, Nopriyati Husan, and Tiar Marina Octyvani 16 Generalized Hypopigmented Macules and Verrucous Papules in Three Siblings������������������������������������������������������������������������   69 Shashank Bhargava and George Kroumpouzos 17 Generalized Molluscum Contagiosum in a Young Girl������������������������   73 Luh Made Mas Rusyati, Ketut Kwartantaya Winaya, and Marrietta Sugiarti Sadeli 18 Leprosy in Pediatric Age ������������������������������������������������������������������������   77 Luh Made Mas Rusyati, Ni Luh Putu Ratih Vibriyanti Karna, Prima Sanjiwani Saraswati Sudarsa, and Marrietta Sugiarti Sadeli 19 Localized Acquired Alopecia over the Mental Area of Chin����������������   81 Hassan M. Abdel Aziz and Mohamed L. Elsaie 20 Low-Birthweight Dwarfism with Features Include Cranio-Facial Disproportion, Facial Dysmorphia, Lateral Asymmetry and Clinodactyly����������������������������������������������������   85 Piotr Brzezinski and Katarzyna Borowska 21 Multifocal Erythematous Plaques Complicated by Ulceration on the Face and Upper Extremities in a Child��������������   89 Shashank Bhargava and George Kroumpouzos

Contents

vii

22 Multiple Papular and Nodular Facial Lesions��������������������������������������   93 Mohamed Saeed Mohamed, Shady M. Ibrahim, and Mohamed L. Elsaie 23 Nail Dystrophy in a Teenager������������������������������������������������������������������   97 Sabha Mushtaq 24 Necrotic and Vesicular Lesions after Sun Exposure ����������������������������  101 Annalisa Franch and Fabio Arcangeli 25 Non-Pseudomonal Ecthyma Gangrenosum Resembling Pyoderma Gangrenosum on Malnourished Child with End Stage Renal Disease����������������������������������������������������������������  107 Made Putri Hendaria, Yuri Widia, Sawitri, Iskandar Zulkarnain, and Irmadita Citrashanty 26 Norwegian Scabies in Patient with Down Syndrome����������������������������  111 Satya Wydya Yenny, Tutty Ariani, and Dwi Sabtika Julia 27 Painful Herpetiform Aphthous Ulcers in the Oral Mucosa in a 15-Year-Old Man������������������������������������������������������������������������������  115 Virginia Botta Tommei, Francesco Bartoli, and Torello M. Lotti 28 Painful, Violaceous, Woody Mandibular Nodule in a Healthy Teenager������������������������������������������������������������������������������  119 Carmen Maria Salavastru, Adelina-Maria Sendrea, Claudiu Socoliuc, and Alexandra Bastian 29 Skin Pigmentation at Angle of the Mouth���������������������������������������������  125 Mohamed L. Elsaie, Mohamed Saeed Mohamed, and Shady M. Ibrahim 30 Subcutaneous Nodular Lesion of the Lumbar Area ����������������������������  129 Amalia Licordari and Fabio Arcangeli 31 Tuberous Sclerosis Complex with Clinodactyly������������������������������������  135 Srie Prihianti Gondokaryono, Argani Gracias Pospos, R. M. Rendy Ariezal Effendi, Reiva Farah Dwiyana, and Inne Arline Diana 32 Vascular Lesion on the Hand������������������������������������������������������������������  143 Erdinc Terzi, Aliye Ceyla Ozbayoglu, Umit Türsen, and Sedat Altın 33 Vulvar Ulcers in a Young Girl ����������������������������������������������������������������  147 Maurizio Parisi and Fabio Arcangeli Index������������������������������������������������������������������������������������������������������������������  153

Chapter 1

A 13 Years Old Female with Refractory Purpura Kenan Barut, Defne Özkoca, and Zekayi Kutlubay

A 13-year-old female applied to the outpatient clinic complaining of bruising on the upper extremities for 2 months. Her medical history and family history were unremarkable. She has no history of trauma or allergies. Her childhood vaccinations were performed on time. The dermatological examination revealed multiple ecchymotic red-brown macules with irregular and indistinct borders located especially on upper extremities, shown in Fig. 1.1. She had no other cutaneous pathology and her other system physical examinations were completely normal. She was consulted with pediatric rheumatology as well. According to the consultation note, her weight and height were in accordance with her age; and there were no signs of physical or sexual abuse. Her usual biochemistry was completely normal; she had no laboratory results suggestive of anemia, infection or inflammation. Keeping the pandemia in mind, her Anti SARS-Cov-2 serology tests were requested: Anti SARS Cov-2 IgM was negative but Anti SARS Cov-2 IgG was positive (3.6) (N 1000 IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate; Probable: These characteristics plus lack of TH17 cells or a family history for definitive HIES; Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3 [3]. Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by intense pruritus and frequent relapsing courses. It mainly occurs in patients who have a personal or family history of atopy, such as asthma or allergic rhinitis. Laboratory examination often suggests that elevated peripheral blood total IgE and eosinophil count [4]; and the defective skin barrier in atopic dermatitis makes patients prone to recurrent cutaneous bacterial and to disseminated viral infection, which is easily confused with HIES.  However, the immune system is generally intact, patients with atopic dermatitis have no tendency to develop severe infections, and there are no abnormalities of bones or connective tissues [5]. Netherton syndrome (NS) is a rare autosomal recessive hereditary disease caused by AR mutations on chromosome 5q32 in a gene named SPINK5. Typical symptoms include ichthyosiform dermatosis, hair shaft abnormalities (trichorrhexis invaginata), and an atopic diathesis [6]. Similar to HIES, the patients show normal IgG, IgA and IgM levels, elevated IgE levels, increased eosinophilia, recurrent infections and atopic dermatitis, but the bambus-like hair is of distinguishing significance. Omenn syndrome (OS) is a serious combined immunodeficiency caused by inherited mutations in either of the recombination activating genes RAG1 or RAG2 [7]. The clinical manifestations are desquamative erythematosis and alopecia in erythema at birth or a few weeks after birth, accompanied by enlarged liver spleen and lymph nodes, persistent diarrhea, and dysplasia. In addition to the increase in peripheral blood IgE levels and the significant increase in eosinophils, the laboratory examination also shows extremely low levels of IgG, IgA and IgM, and significantly reduced T and B cells. Non-bullous congenital ichthyosiform erythroderma (NCIE) is a rare autosomal recessive hereditary disease [8], resulting from AR mutations in genes such as TGM1, ABCA12, ALOXE3, ALOX12B, NIPAL4 or loricrin. Collodion baby is a typical feature different from HIES.  At birth, the baby has characteristic clinical feature with a parchment-like taut membrane covering the whole body, that cracks within 24  hours and desquamates in large lamellae after a few days leaving erythema or almost normal-appearing skin that shows some scaling on the trunk. Furthermore, the patients usually have cicatricial alopecia, dystrophia unguium and

24

T. Zhou and S.-M. Geng

eyelid ectropion, often accompanied by Retinitis pigmentosa. No abnormal changes in laboratory tests like HIES have been reported yet. Special attention should be paid to the possibility that the disease may develop into skin cancer, including basal cell carcinoma and squamous cell carcinoma. The patient presented refractory erythroderma, recurrent respiratory tract infection and intermittent epilepsy with characteristic clinical manifestations as characteristic face and abnormal bone development (ankle hyperextension). Laboratory examination revealed high total IgE level and eosinophil count, X-rays of lungs showed increased bronchovascular shadows, suggesting recurrent pneumonia. We evaluated the clinical and laboratory characteristics of the patient according to the scoring system established by NIH. As shown in Table 6.1, his weighted score of clinical features was 48.3, which is greater than 30, and IgE >1000  IU/mL.  So Hyper IgE syndrome was possible. To confirm the diagnosis, the patient should undergo a genetic test for the suspected gene and detection of TH17 cell level. At present, the treatment of HIES patients is still difficult, which mainly depends on observational data and clinical experience. Intensive care of dermatitis, prompt broad-spectrum antibiotic/antifungal treatment of infections and immunoglobulin therapy are the cornerstones of HIES treatment. Because the patient is in a state of immunodeficiency, the application of immunosuppressants is still controversial and should be used with caution. It is reported that IFN-α 2b is beneficial to the control of persistent viral infection in patients with DOCK8 deficiency [9]. In addition, there are individual reports that Omalizumab [10] and Dupilumab [11] have been reported to be effective and safe in the treatment of intractable eczema in patients with HIES, but more evidence is needed.

Table 6.1  STAT3-weighted score of the patient Points Clinical findings 1. Pneumonias (X-ray proven, total #) 2. Newborn rash 3. Pathologic bone fractures

0

2

4

5

6

8

none

1

2

-

3

>3

absent

-

present

-

-

-

none

-

1-2

-

-

>2

4. Characteristic face for Job syndrome

absent

mild

-

present

-

-

5. Cathedral palate

absent

present

-

-

-

-

1. 2. 3. 4. 5.

Pneumonias Newborn rash Pathologic bone fractures Characteristic face for Job syndrome Cathedral palate Total (Sum 1-5) Scaled Points

Points

x 8 4 4 2 0

Scale 2.5 2.08 3.33 3.33 2.5

Scaled Points 20 8.32 13.32 6.66 0 48.3

6  A Teenager with Refractory Erythroderma

25

Key Points • Hyper IgE syndrome (HIES) represents as primary immunodeficiency diseases with genetic heterogeneity and phenotypic heterogeneity, genetic and functional tests are still the gold standard for establishing a clear diagnosis based on molecular defects. • HIES has been easily misdiagnosed, systemic application of immunosuppressant may worsen the disease. • Refractory erythroderma and recurrent infections, especially drug-­resistant bacteria challenge the HIES treatment.

References 1. Farmand S, Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Curr Opin Hematol. 2015;22(1):12–22. 2. Al-Shaikhly T, Ochs HD.  Hyper IgE syndromes: clinical and molecular characteristics. Immunol Cell Biol. 2019;97(4):368–79. 3. Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et  al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424–32 e8. 4. Tofte S. Atopic dermatitis. Nurs Clin North Am. 2007;42(3):407–19, vi. 5. Wollenberg A, Wetzel S, Burgdorf WH, Haas J. Viral infections in atopic dermatitis: pathogenic aspects and clinical management. J Allergy Clin Immunol. 2003;112(4):667–74. 6. Sun JD, Linden KG.  Netherton syndrome: a case report and review of the literature. Int J Dermatol. 2006;45(6):693–7. 7. Gruber TA, Shah AJ, Hernandez M, Crooks GM, Abdel-Azim H, Gupta S, et al. Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. Pediatr Transplant. 2009;13(2):244–50. 8. Dover R, Burge S, Ralfs I, Ryan TJ. Congenital non-bullous ichthyosiform erythroderma— cell kinetics before and after treatment with etretinate. Clin Exp Dermatol. 1986;11(5):431–5. 9. Al-Zahrani D, Raddadi A, Massaad M, Keles S, Jabara HH, Chatila TA, et  al. Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency. Clin Immunol. 2014;153(1):104–8. 10. Chularojanamontri L, Wimoolchart S, Tuchinda P, Kulthanan K, Kiewjoy N. Role of omalizumab in a patient with hyper-IgE syndrome and review dermatologic manifestations. Asian Pac J Allergy Immunol. 2009;27(4):233–6. 11. Sogkas G, Hirsch S, Jablonka A, Witte T, Schmidt RE, Atschekzei F.  Dupilumab to treat severe atopic dermatitis in autosomal dominant hyper-IgE syndrome. Clin Immunol. 2020;215:108452.

Chapter 7

A Young Boy with Hyperpigmented and Hypopigmented Macules Jingang An and Songmei Geng

An 18-year-old Chinese boy presented with generalized hyperpigmented and hypopigmented macules since born (Fig. 7.1). Based on the case description and the photographs, what’s your diagnosis? 1. Dyschromatosis symmetrica hereditaria 2. Westerhof disorder 3. Idiopathic guttate hypomelanosis 4. Dyschromatosis universalis hereditaria He was born of nonconsanguineous parents following a normal pregnancy and delivery. At the age of 1 year, he developed pea-sized pigmented macules on the face. The small hyperpigmented and hypopigmented macules spread gradually the whole of the body. The number of skin lesions increased until he was 4 years old. On examination, skin lesions were asymptomatic, and mottled hyper- and hypopigmentation with macules of varying size ranging from 1 to 10  mm in diameter (Fig. 7.1). The mucous membranes, teeth, hair, and nails appeared normal. There was no erythema, telangiectasia, ulcer or neoplasm occurred. Other systemic examination and routine lab work-up were normal. No similar family history was recorded. Skin biopsies from hyperpigmented and hypopigmented macules revealed basal melanosis and hypomelanosis, respectively, while the melanocytes were presented on both areas (Fig. 7.2). Diagnosis  Dyschromatosis universalis hereditaria.

J. An · S. Geng (*) Department of Dermatology, The Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, China © The Author(s), under exclusive license to Springer Nature Switzerland AG 2022 T. M. Lotti, F. Arcangeli (eds.), Clinical Cases in Adolescent Dermatology, Clinical Cases in Dermatology, https://doi.org/10.1007/978-3-030-91526-1_7

27

28 Fig. 7.1 Symmetrically distributed hyper and hypopigmented macules of irregular size on the lower limbs

Fig. 7.2 Histology revealed melanin incontinence in the epidermis and some melanophages in the upper dermis (HE ×40)

J. An and S. Geng

7  A Young Boy with Hyperpigmented and Hypopigmented Macules

29

Discussion Toyamo described patients with hyperpigmented and hypopigmented macules all over the body in 1929 firstly in Japan. Moriyama reported a similar family in 1931. Ichikawa and Hiraga named the disease as dyschromatosis universalis hereditaria (DUH) in 1933 [1]. DUH is firstly considered to be a generalized type of dyschromatosis symmetrica hereditaria (DSH). Later it is suggested that the two diseases are completely different in both Pathogenesis and inheritance pattern. The current incidence of DSH in Japan and other countries is unknown. Sporadic or familial cases of DSH occur mainly in Japanese, Koreans, Indians, Chinese, and a few cases were described among Europeans, and South Americans. The difference in the frequency of this disorder between Asia and other regions may be related to genetic background and/or environment. The dermatitis caused by DUH is randomly distributed almost the whole body. Most lesions appear initially on trunk, and extend gradually over the years. They were irregular in size and shape, ranging from 0.5 to 20 mm in diameter [2]. The hyperpigmented lesions were colored dark brown, and hypopigmented lesions were light brown to white in color. Occasionally minimal atrophy occurs, but no erythema, telangiectasia or neoplasm found. Face, palm and sole could be affected in some cases. Hair, teeth, nails even mucous membrane may be involved. There is no itching, aching or paresthesia in all lesions. In all these reports there were no seasonal changes or spontaneous regression with age. Till now more than 10 complications has been found though its low incidence, including small stature, high-tone deafness, ocular abnormalities, erythrocyte, platelet, and tryptophan metabolism abnormalities, photosensitivity, neurosensory hearing defects, grand mal epilepsy, insulin-dependent diabetes mellitus, Dowling– Degos disease, delayed speech, difficulty in learning, and tuberous sclerosis. Under light microscopy, less melanin was seen in hypo-pigmented macule than in hyperpigmented area. Nevertheless, the number of melanocytes was normal in both lesions. Melanophages and lymphocytes could be found in the upper dermis, with no abnoramality of collagen. To get more evidence, Wang and Nuber had done ultrastructural examination respectively. Under electron microscope, considerable amounts of melanocytes and melanosomes but different amounts of fully melanized melanosomes could be seen within the hypo-pigmented and hyperpigmented area. According to such findings, Nuber considered that DUH was not a disorder of changed melanocyte number, but dysfunction of melanosome synthesis or activity. The inheritance pattern and mutant gene of DUH are not certain now. In the majority of cases, DUH were reported to show an autosomal dominant mode of inheritance with high penetrance. However, other speculations include autosomal recessive inheritance and germ-line mosaicism could not be excluded. SASH1 [3] and ABCB6 [4] have been identified as the causative genes for this disorder. Meanwhile, many sporadic cases were described.

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J. An and S. Geng

Differential diagnosis should include dyschromatosis symmetrica hereditaria; Westerhof disorder; vagabond leukoderma; idiopathic guttate hypomelanosis; incontinentia pigmenti; dyskeratosis congenita; dermatopathia pigmentosa reticularis; familial progressive hyperpigmentation; xeroderma pigmentosum [5]. 1. Dyschromatosis symmetrica hereditaria, also known as reticulate acropigmentation of Dohi, was firstly described in 1929. It is characterized by symmetric, small, hyper- and hypopigmented macules on the dorsa of hands and feet. Histological examinations reveal increased melanin pigment in the basal layer and through the epidermis with normal melanocyte number. 2. Westerhof disorder, described in three generations of one farnlly, displays congenital hypo- and hypermelanotic macules. There is also growth and mental retardation. 3. Vagabond leukoderma is a condition found in persons living in poor hygieruc conditions. Diffuse light-brown hyperpigmentation is present at the shoulder and waist girdle and the neck and back are dotted with de-pigmented macule. The condition improves on institutions of a healthier lifestyle and likely represents a co-existence of many of the disorders 4. Idiopathic guttate hypomelanosis (IGH) is characterized by discrete, round or oval porcelain-white macules of approximately 2- to 5  mm diameter, which increase in number with aging. Any associated hairs often remain pigmented. Lesions are found in a photodistribution and tend to occur in chronically sun-­ damaged skin. Histologically, IGH lesions are characterized by slight basket-­ weave hyperkeratosis with epidermal atrophy and flattening of the rete pegs. Lesions show a decrease in melanocytes and melanin content of the affected epidermis and pigment granules are irregularly distributed. 5. Incontinentia pigmenti (IP), was first described by Garrod et al. in 1906. Hyper-­ pigmentation in stage 3, and hypo-pigmentation in stage 4 can be found. It is an X-linked, dominantly inherited disorder. Histologically, the number of melanocytes seems to be normal. Hyper-pigmentation due to pigmentary incontinence in dermal melanocytes. 6. Dyskeratosis congenita (DKC) is a degenerative skin disorder, characterized by reticulate skin pigmentation, nail atrophy, leukoplakia, and bone marrow failure. Three patterns of inheritance have been described: X-linked, autosomal dominant, and autosomal recessive. Histologically melanophages can be seen in upper dermis. 7. Dermatopathia pigmentosa reticularis is composed of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Additional associations include palmoplantar hyperkeratosis, nonscarring blisters on the dorsa of the hands and feet. Histologically focal aggregations of melanin and melanophores in upper dermis can be seen. 8. Familial progressive hyperpigmentation is characterized by patches of hyperpigmentation, which appears in the conjuncitivae and the buccal mucosa. Inheritance is autosomal dominant. Histologically hyperkeratosis and epidermal hypermelanosis can be seen.

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9. Xeroderma pigmentosum is characterized by hyperpigmented and hypopigmented which appears in the sun-exposed areas. Xerosis; atrophy; teleangiectasia and skin tumors are additional clinical features. Inheritance is autosomal recessive. Histologically, hyperkeratosis, chronic inflammatory infiltrate in upper dermis, irregular accumulation of melanin in basal layer, melanocyte number can be increased.

Key Points • DUH is a rare disease showed asymptomatic hyperpigmented and hypopigmented macules of irregular size and shape involving almost the whole body. • SASH1 and ABCB6 have been identified as the causative genes for this disorder.

References 1. Imamura S. Skin diseases first described in Japan. Clin Dermatol. 1999;17(2):117–26. 2. Al Hawsawi K, et al. Dyschromatosis universalis hereditaria: report of a case and review of the literature. Pediatr Dermatol. 2002;19(6):523–9. 3. Nan W, Tang L, Li X, Dai Y, Zheng X, Gao M, Wang P. Identification of a novel mutation in SASH1 gene in a Chinese family with Dyschromatosis Universalis Hereditaria and genotype-­ phenotype correlation analysis. Front Genet. 2020;4(11):841. 4. Zhong W, Pan Y, Shao Y, Yang Y, Yu B, Lin Z. Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation. Clin Exp Dermatol. 2019;44(3):e58–60. 5. Alshaikh H, Alsaif F, Aldukhi S. Clinical and genetic review of hereditary acral reticulate pigmentary disorders. Dermatol Res Pract. 2017;2017:3518568.

Chapter 8

Adolescent Female with Brown Papules and Peculiar Nails Adelina-Maria Sendrea, Mariana Diana Tatomir, Sabina Andrada Zurac, Razvan Andrei, and Carmen Maria Salavastru

Short Clinical History of the Patient A 15-year-old female, with no personal medical history, presented with an eruption consisted of red-brown hyperkeratotic papules, located on the anterior aspect of the neck and laterocervical areas, associated with pruritus, progressively developed in the past 5 years (Fig. 8.1a). Regarding her family medical history, she mentioned that her younger brother, her father and paternal grandfather had similar lesions distributed on the anterior aspect of the upper trunk with no specific diagnosis for their cutaneous condition. The clinical examination revealed a symmetric eruption with pruritic erythematous-­brown hyperkeratotic papules located on the anterior aspect of the A.-M. Sendrea (*) · C. M. Salavastru Pediatric Dermatology Department, Colentina Clinical Hospital, Bucharest, Romania Dermatology Research Unit, Colentina Clinical Hospital, Bucharest, Romania “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania e-mail: [email protected]; [email protected] M. D. Tatomir Pediatric Dermatology Department, Colentina Clinical Hospital, Bucharest, Romania Mioveni Penitentiary Hospital, Mioveni, Romania e-mail: [email protected] S. A. Zurac “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania Pathology Department, Colentina Clinical Hospital, Bucharest, Romania e-mail: [email protected] R. Andrei Pathology Department, Colentina Clinical Hospital, Bucharest, Romania © The Author(s), under exclusive license to Springer Nature Switzerland AG 2022 T. M. Lotti, F. Arcangeli (eds.), Clinical Cases in Adolescent Dermatology, Clinical Cases in Dermatology, https://doi.org/10.1007/978-3-030-91526-1_8

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a

b

c

d

Fig. 8.1  Erythematous-brown hyperkeratotic papules eruption on the laterocervical region (a), preauricular area (b) and the dorsal aspect of the hand (c) and foot (d)

neck and laterocervical regions, preauricular areas and the dorsal aspect of the hand and feet (Fig. 8.1). Additionally, the patient also presented punctate palmo-­plantar keratoderma (Fig. 8.2), a V-shaped notching of the distal nail plate of the left thumb (Fig. 8.3) and axillary hyperhidrosis. Under local anesthesia with lidocaine 2%, a 4 mm punch biopsy of one hyperkeratotic papule located on the left laterocervical region was performed. The histopathological examination with hematoxylin-eosin stain identified moderate acanthosis, with areas of parakeratosis, including in the corneum and granular layers dyskeratotic keratinocytes; areas of suprabasal acantholysis were identified and, additionally, a minimal perivascular lympho-monocyte inflammatory infiltrate, with rare melanophages was found in the dermis (Fig. 8.4). Based on the case description and the photographs, what is your clinical diagnosis? 1. Acrokeratosis verruciformis of Hopf

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a

b

Fig. 8.2  Pitted palmo (a) plantar (b) keratoderma Fig. 8.3  A V-shaped notching of the distant nail plate

2. Darier disease 3. Benign familial pemphigus (Hailey-Hailey disease) 4. Grover disease Diagnosis  Darier disease.

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Fig. 8.4  Pathology aspect (HE x 200): Acantholytic and dyskeratotic dermatosis with development of characteristic suprabasal clefts and focal tendency towards villus-like structure formation (projection of underlying dermal papillae, covered by a single layer of epithelium within the central cleft); minute overlying keratin plug

Discussion Darier disease, also known as keratosis follicularis, dyskeratosis follicularis or Darier-White disease represents a rare autosomal dominant genodermatosis, caused by mutations in the ATP2A2 gene, which encodes SERCA2—an endoplasmatic reticulum Ca2+ ATPase pump—leading to disturbances in the calcium intracellular signaling [1]. This abnormal calcium signaling, in turn, determines a compromised intercellular keratinocyte adhesion. Clinical, it presents with specific pruritic cutaneous lesions (hyperkeratotic red-brown that can become confluent, forming large papillomatous lesions, distributed symmetrically on seborrheic areas; pitted palmoplantar keratoderma). Besides the skin involvement, patients with Darier disease might present with nail abnormalities (such as red/white longitudinal lines, fissures, longitudinal ridging, subungual hyperkeratosis, V-shaped notching at the free edge of the nail) or, less often, mucous membrane involvement (asymptomatic white papules or rugose plaques, that can involve the hard palate, gingival regions, tongue or buccal mucosa). Several clinical variants of Darier disease are described, like hypertrophic, vesiculo-bullous and linear/zosteriform [1, 2]. The individual lesions are prone to secondary infections (both bacterial and fungal), which can determine the presence of a local malodour and discomfort. After onset (usually during puberty, with an equal gender distribution), the disease follows a chronic, fluctuating course, some patients experiencing improvements, while others presenting with flares. Darier disease becomes more clinically apparent during spring and summer and certain exacerbating factors have been described: heat, perspiration, sun exposure, trauma, menstruation, and drugs (e.g. lithium, oral corticosteroids) [2]. The diagnosis is based on the typical clinical features, age of onset, family history associated with characteristic pathological findings. The hallmark pathological

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changes include acantholysis (with suprabasal cleft development) and dyskeratosis. There are two types of dyskeratotic cells that can be encountered: corps ronds (rounded eosinophilic dyskeratotic cells in the malpighian layer) and corps grains (flattened parakeratotic cells in the stratum corneum). Additionally, occasional papillomatosis and a mild-moderate chronic perivascular inflammatory infiltrate might be present [2]. The main differential diagnosis of Darier disease is with acrokeratosis verruciformis of Hopf, also a rare autosomal dominant genodermatosis, determined by a heterozygous Pro602Leu missense mutation in the same gene involved in Darier disease (ATP2A2 gene), which makes these two disorders allelic. Mutations at this level were identified in five large pedigrees with different geographic origin, but not in a Chinese family with acrokeratosis verruciformis of Hopf; in this family, the link with the chromosomal region of ATP2A2 gene was excluded [3]. Clinically, it presents with asymptomatic multiple skin-colored flattopped warty papules, distributed symmetrically on the dorsum of the hands and feet and occasionally punctate acral keratosis or nail changes [3]. Compared to Darier disease, acrokeratosis verruciformis of Hopf usually becomes clinically apparent during early childhood and on the pathology examination, no acantholysis and dyskeratosis are identified [4]. Another differential diagnosis of Darier disease is Hailey-Hailey disease (familial benign chronic pemphigus), an autosomal dominant genodermatosis, determined by mutations in the ATP2C1 gene leading to loss of cellular adhesion in the stratum spinosum [3, 5]. It usually develops in young adults (between the second and fourth decades of life), presenting with a clinical picture of vesicular, erosive lesions and fissures on the intertriginous regions, especially in the axillary, neck, inframammary, perineum and groin areas. Lesions in Hailey-Hailey disease can associate pain, malodour, pruritus, and usually heal with postinflammatory hyperpigmentation. The characteristic pathological findings include partial loss of cohesion between suprabasal keratinocytes creating the aspect of a dilapidated brick wall, floating cells in suprabasal clefts, but compared to Darier disease, necrotic keratinocytes and dyskeratosis are rarely described [3, 5]. Grover disease, also known as transient acantholytic dermatosis is a cutaneous disorder of unknown cause, with pathological features similar to Darier disease. Clinically, it presents with erythematous scaly papules and papulo-vesicles located on the upper trunk and proximal extremities, that can associate pruritus. Compared to Darier disease, it affects more middle-aged to elderly Caucasian males, generally in the fifth decade of life, and can be self-limited [6]. Histologic features of Grover disease include intraepidermal clefting and four different patterns of acantholysis, one of which is represented by a Darier-like pattern described as suprabasal acantholysis of keratinocytes with apoptotic or dyskeratotic cells within the epidermal layers, making the differential diagnosis with Darier disease a true challenge [6].

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The treatment regimens used in Darier disease are not curative, but symptomatic. All patients must be advised on how to avoid heat, sun exposure, humidity, mechanical friction and how to properly use sunscreen. Topical treatments with emollients (like urea and lactic acid) and retinoids (adapalene, tretinoin), with/without topical steroids, help reduce the hyperkeratosis and scaling. Due to the potential risk of microorganisms colonization of the lesions and secondary infections, antibiotics and antifungal drugs can be used both topically and orally [1, 2, 7]. Systemic therapy with oral retinoids is recommended in severe cases of Darier disease, that are resistant to topical treatment. Systemic corticosteroids can be used with good results in the vesiculobullous types of Darier disease. Other treatment options that proved to have a beneficial effect are represented by cyclosporin, botulinum toxin, topical 5-fluorouracil or topical diclofenac sodium 3% gel [1, 2, 7]. Furthermore, several procedures can be used in the therapeutic approach of cutaneous manifestations in Darier disease, such as: ablative laser therapy (CO2 or erbium:YAG), electrosurgery, dermabrasion, pulse dye laser or photodynamic therapy [1, 7]. In this case, patient and patient’s family education regarding general lifestyle measures and proper sun protection techniques were explained. The patient followed a combined topical treatment regimen with emollients, keratolytics, topical steroids and topical isotretinoin, with mild improvement of the lesions. Electrosurgery of the lesions from the lateral aspects of the neck was performed, with added benefit. Darier disease represents a genodermatosis with skin lesions which require constant monitoring and complex treatment regimens, for symptomatic improvement; although uncommon, it is important to be recognized and properly diagnosed, as it can have a significant impact on patient’s quality of life and genetic counseling regarding the risk of transmission to their offspring should be provided to patients with this condition.

Key Points 1. Darier disease is an autosomal dominant genodermatosis, characterized by pruritic hyperkeratotic red—brown papules distributed on seborrheic areas. 2. The disease follows a chronic course; several treatment options are available, helping in reducing symptoms; patients should be frequently checked-up, with constant adjustment of the treatment plan, according to the clinical picture and therapy results. 3. Acantholysis and dyskeratosis represent the two histologic hallmarks of Darier disease. 4. Since the disease can have a significant impact on patient’s quality of life, genetic counseling regarding the risk of transmission to their offspring should be offered to the patients with this condition.

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References 1. Hohl D. Darier disease and Hailey–Hailey disease. In: Bolognia JL, Schaffer JV, Cerroni L, editors. Dermatology. 4th ed. Philadelphia: Elsevier; 2018. p. 944–50. 2. Suryawanshi H, Dhobley A, Sharma A, Kumar P. Darier disease: a rare genodermatosis. J Oral Maxillofac Pathol. 2017;21(2):321. https://doi.org/10.4103/jomfp.JOMFP_170_16. 3. Hovnanian A. Acantholytic disorders of the skin. In: Kang S, Amagai M, Bruckner A, Enk A, Margolis D, McMichael AJ, Orringer JE, editors. Fitzpatrick dermatology. 9th ed. New York, NY: McGraw Hill Education; 2019. p. 877–900. 4. Williams GM, Lincoln M. Acrokeratosis Verruciformis of Hopf. [Updated 2020 May 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537250/ [Accessed February 5th 2021]. 5. Patel VM, Rubins S, Schwartz RA, Septe M, Rubins A. Hailey-Hailey disease: a diagnostic challenge. Cutis. 2019;103(3):157–9. 6. Weaver J, Bergfeld WF. Grover disease (transient acantholytic dermatosis). Arch Pathol Lab Med. 2009;133(9):1490–4. https://doi.org/10.1043/1543-­2165-­133.9.1490. 7. Takagi A, Kamijo M, Ikeda S.  Darier disease. J Dermatol. 2016;43(3):275–9. https://doi. org/10.1111/1346-­8138.13230.

Chapter 9

An Adolescent with Recurrent Eczematous Lesions Raffaele Brancaccio, Giuseppe Ruggiero, Stefano Belletti, and Vincenzo Patella

A 16-year-old caucasian boy presented with heterogeneous itchy lesions on face, neck, upper and lower limbs. The anamnesis revealed that similar lesions had appeared since the age of 18 months and previously involved exclusively the face (mainly the perioral and cheek areas) and neck. The course of the disease has been chronic-relapsing during the years. Lately, the patient has experience of itching exacerbation and the lesions also affected the creases of the elbows and knees and the hands. The physical examination showed eczematous lesions with erythema, excoriations and lichenification in limbs’ folds (Fig. 9.1), face and neck. The patient was sensitized to dermatophagoides, cat epithelium, grass, lichwort and olea europea and was also affected by rhino-conjunctivitis and asthma. Based on the case description and the photograph, which is your diagnosis? 1. Contact allergic dermatitis 2. Atopic dermatitis 3. Psoriasis

R. Brancaccio (*) · S. Belletti Division of Allergy and Clinical Immunology, “Santa Maria della Speranza” Hospital, Salerno, Italy G. Ruggiero National Head of the Dermatology Study Group of the Italian Federation of General Pediatricians, Rome, Italy V. Patella Division of Allergy and Clinical Immunology, “Santa Maria della Speranza” Hospital, Salerno, Italy Postprogram in Allergy and Clinical Immunology, School of Medicine, University of Naples Federico II, Naples, Italy © The Author(s), under exclusive license to Springer Nature Switzerland AG 2022 T. M. Lotti, F. Arcangeli (eds.), Clinical Cases in Adolescent Dermatology, Clinical Cases in Dermatology, https://doi.org/10.1007/978-3-030-91526-1_9

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Fig. 9.1 Eczematous lesions with erythema, excoriations and lichenification, on the creases of the right elbow

Diagnosis Atopic dermatitis.

Discussion Atopic dermatitis (AD) is a chronic, relapsing inflammatory skin disorder characterized by intense pruritus and excoriations, with erythematous, xerotic skin, and an increased risk of skin infections. AD prevalence is approximately 20% in children in the United States. Its peak prevalence is seen in early childhood, with 45% of affected individuals presenting in the first six months of life, 60% in the first 12 months of life, and 85% before the age of five [1]. In AD patients older than 6-years-old with an inadequate response to topical therapy, dupilumab, a fully human monoclonal antibody that binds specifically to the shared α chain subunit of the IL-4 and IL-13 receptors, should be considered. Dupilumab interferes with type 2/Th2 inflammatory cytokines implicated in AD pathogenesis [2].

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Fig. 9.2  Improvement of the lesions after 16 weeks therapy with Dupilumab

After 16 weeks of treatment with dupilumab, the lesions of our patient disappeared (Fig. 9.2) and the objective parameters [EASI = 44 (baseline), 4,6 (16 weeks); IGA = 4 (baseline), 2 (16 weeks)] and subjective parameters [DLQI = 18 (baseline), 2 (16 weeks); NRS = 9 (baseline), 3 (16 weeks)] showed an impressive improvement [3].

Differential Diagnosis 1. Contact dermatitis is a common inflammatory skin disorder affecting adults and children. The disease is characterized by pruritus, erythema, vesicles and scaling of the skin. Contact dermatitis can be further divided into allergic (ACD) and irritant contact dermatitis (ICD), with ICD being more common (80%). ACD is a type IV-mediated hypersensitivity inflammatory response to a specific allergen exposure. ICD is a non-immunologically inflammatory reaction to irritating ­substances [4]. These conditions can be associated to AD due to epidermal bar-

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rier impairment. This not only makes skin sensitive to any irritating substance but also allows haptens to penetrate and trigger a type IV-mediated hypersensitivity [5]. Therefore differential diagnosis between AD and contact dermatitis may be difficult. 2. Psoriasis is an immune-mediated disease of the skin or joints or both. Psoriasis is equally prevalent in both sexes. Five types of psoriasis have been reported: plaque psoriasis, guttate. Guttate or eruptive psoriasis, inverse psoriasis, (also called intertriginous or flexural psoriasis), pustular psoriasis and erythrodermic psoriasis [6]. Generally the main difference between psoriasis and AD of the limb is that psoriasis more commonly involves the external side whereas AD usually involves the internal side. This statement is not always true, since, for example, inverse psoriasis affects the flexural part of limb joints and AD can involve the external side. However, psoriasis, unlike AD, usually is characterized by scaly, non-exuding lesions and less itching.

Key Points • Diagnosis of AD is clinical, but a biopsy may be needed for differential diagnosis. Key features are eczema localized in flexural limb areas, early onset, personal or family history of atopy. • Allergic contact dermatitis has to be often ruled out in the diagnostic process of AD, especially when the face, hands and feet are affected. • AD-affected adolescents who do not respond to topical therapy are eligible for treatment with anti-ILRα antibody (dupilumab).

References 1. Ahn C, Huang W. Clinical presentation of atopic dermatitis. Adv Exp Med Biol. [Internet]. 2017 [cited 2020 Mar 8];1027:39–46. Available from: http://www.ncbi.nlm.nih.gov/ pubmed/29063429. 2. Peris K, Valeri P, Altobelli E, Fargnoli MC, Carrozzo AM, Chimenti S.  Efficacy evaluation of an oil-in-water emulsion (Dermoflan) in atopic dermatitis [3]. Acta Derm Venereol. 2002;82:465–6. 3. Blauvelt A, de Bruin-Weller M, Gooderham M, Cather JC, Weisman J, Pariser D, et al. Long-­ term management of moderate-to-severe atopic dermatitis with dupilumab and concomitant topical corticosteroids (Liberty Ad Chronos): a 1-year, randomised, double-blinded, placebo-­ controlled, phase 3 trial. Lancet. 2017 Jun;389(10086):2287–303. 4. Nassau S, Fonacier L. Allergic contact dermatitis [Internet]. Vol. 104, Medical Clinics of North America. W.B. Saunders; 2020 [cited 2021 Jan 21]. p. 61–76. Available from: https://pubmed. ncbi.nlm.nih.gov/31757238/. 5. Thyssen JP, McFadden JP, Kimber I. The multiple factors affecting the association between atopic dermatitis and contact sensitization [Internet]. Vol. 69, Allergy: Eur J Allergy Clin Immunol. 2014 [cited 2021 Jan 21]. p. 28–36. Available from: https://pubmed.ncbi.nlm.nih. gov/24372195/. 6. Boehncke WH, Schön MP.  Psoriasis [Internet]. Vol. 386, The Lancet. Lancet Publishing Group; 2015 [cited 2021 Jan 21]. p.  983–94. Available from: https://pubmed.ncbi.nlm.nih. gov/26025581/.

Chapter 10

An Unusual Coincidence of Alopecia Areata with Trichotillomania in a Child with Osteogenesis Imperfecta Cinthia C. D. Thamrin, Lili Legiawati, Larisa Paramitha Wibawa, Lis Surachmiati, and Irma Bernadette S. Sitohang

A 15-year-old girl with a history of osteogenesis imperfecta type I was consulted from the department of pediatric with a chief complaint of thin hair and baldness in several areas of the scalp (Fig. 10.1). The complaints have been felt since 4 years ago. The patient had sudden hair loss, which exceeds 100 strands of hair per day. Her pubic hair and eyebrows grew normally. In addition, according to the patient’s mother, the subject has a habit of pulling out her hair. This habit has been realized since 1  year ago. The patient’s mother often finds hair breaks in the patient’s bed. The patient did not admit to having pulled out or plucked her hair. In addition, the patient had not shaved her hair in the last 3 months. The patient has routinely received intravenous zoledronic acid therapy every 6 months since 6 years ago. Currently, the patient routinely took calcium and vitamin D. On physical examination it showed a bodyweight of 32.5  kg, height 145  cm, weight/height 93%, height/age