Conradi-H & uuml;nermann-Happle syndrome (CHHS) is a rare X-linked dominant disorder caused by mutations in the emopamil-binding protein (EBP) gene, disrupting cholesterol biosynthesis and resulting in skeletal, cutaneous, and multisystem abnormalities. We report a case of a female neonate born to nonconsanguineous parents in India, presenting with classical features of CHHS, including rhizomelic limb shortening, midface hypoplasia, macrocephaly, ichthyosiform skin lesions in a blaschkoid distribution, and patchy alopecia. Radiological evaluation revealed epiphyseal stippling, a hallmark of the condition, and genetic testing identified a variant of uncertain significance in the EBP gene (c.484G>C, p.Asp162His), supporting the clinical diagnosis and mutation in the COL1A1 and ROR2 genes. This report highlights the diagnostic challenges of interpreting multiple variants of uncertain significance in rare disorders and emphasizes the role of multidisciplinary evaluation. Our findings expand the phenotypic spectrum of CHHS and contribute valuable insights into its clinical and genetic heterogeneity.
Background:There are very few studies conducted in India regarding the epidemiology and clinical presentation of pediatric atopic dermatitis (AD). It is essential to have more data, as pediatric AD is an emerging chronic skin disease in children with increasing prevalence.Materials and Methods:Our study was a cross-sectional analysis conducted in 200 pediatric patients aged 0-15 years diagnosed with AD according to the Hanifin and Rajka's criteria over 1 & half; years in a tertiary care hospital in Chhattisgarh.Results:The predominant mild severity was seen in 69.5% of pediatric AD patients. Sixty-one per cent of patients had AD onset before 5 years of age, and 34.5% had AD onset before 1 year of age. Most of the patients had a chronic duration of AD for more than 1 year (64%). The various risk factors, such as residence in an urban area, family history of atopy, not being exclusively breastfed, and higher hygiene practices (frequent use of sanitizers), were more common in the moderate/severe AD group compared to the mild AD group. However, the difference was not statistically significant. Infantile-onset AD was more commonly associated with moderate-to-severe grade as compared to mild AD.Conclusion:Early age of onset, chronic presentation, and mild disease severity were common in our pediatric AD population. We identified infantile-onset AD as a risk factor for moderate-to-severe AD.
Background:Erythroderma presents as erythema and scaling with involvement of more than 90% body surface area. It is well documented in the literature in adults, but rare in pediatric patients. There are various underlying causes, such as drug reaction, atopic dermatitis, psoriasis, ichthyosis, and infections.Aims and Objectives:To assess the clinico-etiological profile of children presenting with erythroderma.Materials and Methods:A retrospective record-based study was conducted from April 2019 to August 2025 which was approved by the institutional ethics committee. Any child aged <18 years of either sex presenting in the dermatology department with erythroderma was included in our study. A detailed history, clinical examination, and biopsy, if needed, were performed previously to establish early diagnosis.Results:A total of 29 pediatric patients with erythroderma were included in the study. The most common cause in our study was found to be drug reaction (7, 24.1%), followed by atopic dermatitis (4, 13.8%) and psoriasis (3, 10.3%). Examination showed erythema and scaling in all patients. Diffuse scaling was seen over the scalp in 24 (82.75%) patients, with diffuse hair loss in 8 (27.58%) patients. Mucosal changes were seen in 19 (65.5%) patients. Nail involvement was observed in 9 (31.03%) patients.Conclusion:Erythroderma is a dermatological emergency needing prompt intervention. Hence, proper history and meticulous clinical examination are imperative to establish early diagnosis and thus early management.
Background: Pediatric dermatology constitutes an important branch of dermatology with wide variation in presentation and treatment from adults. Materials and Methods: This hospital-based cross-sectional study was conducted in the department of dermatology over 1 year from January 2023 to January 2024. All pediatric patients attending the outpatient department, aged <1 month up to 14 years, were included in the study. The dermatoses were divided into various categories, such as infections and infestations, eczema, papulosquamous disorders, hypersensitivity disorders, photosensitivity disorders, sweat and sebaceous gland disorders, and so on. Results: A total of 2953 patients were included in the study group. The majority of the age group belonged to the age group of 6-14 years. Infections and infestations were the most common dermatoses seen in the study, of which fungal infections constituted the majority of the cases. Conclusion: Infections and infestations contributed to the majority of cases, of which fungal infections were noted. Thus, by improvement in personal hygiene and awareness of dermatoses, we can reduce the burden of dermatoses. The findings contribute to a better understanding of the pattern of dermatoses, which may differ in different studies due to the climatic, environmental, and various other factors. Thus, it can help in the effective steps to be taken to reduce the burden of dermatoses seen in the pediatric age group.
Background:The prevalence and pattern of pediatric dermatoses vary depending on the region, environmental factors, type of population studied, hygiene, and nutritional status. There is a paucity of data on the clinical patterns of childhood dermatoses among expatriates in the UAE.Objective:This study aims to identify the pattern of pediatric dermatoses, to assess the prevalence and severity of atopic dermatitis (AD) evaluated at a dermatology outpatient department in Dubai and Abu Dhabi, UAE, and to compare the findings with similar surveys conducted in other countries.Methods:A retrospective observational study was performed on children up to 14 years old between December 2023 and May 2024. Data were collected from documented files stored in the system for each patient.Results:During the study period, 7397 patients were seen in dermatology consultations, with 998 children under 14 years of age. The majority of children seen were of Indian nationality (81.4%), followed by Pakistani (5.8%) and Filipino (3.5%). Other nationalities contributed 9.2%. Skin diseases were categorized, with allergic skin diseases being the most common group (57.41%). Other main categories included infectious diseases (22.9%), adnexal disorders (9.22%), papulosquamous disorders (2.00%), cysts and neoplasms (0.6%), vascular disorders (0.2%), genodermatoses (0.2%), disorders of pigmentation and nevi (1.9%), and miscellaneous (5.5%). Of the most common dermatoses, AD (30.26%), seborrheic dermatitis (6.01%), and pityriasis alba (6.01%), followed by acne vulgaris (5%) and viral warts (5%), topped the list.Conclusion:This study provides important data on the spectrum of skin diseases, especially the prevalence and severity of AD encountered in the pediatric age group, and the general approach to patients. Allergic skin diseases were the most common dermatoses in children residing in the UAE, while the majority of studies conducted in their native countries found infections and infestations to be the leading group of dermatoses.
Angiomatoid fibrous histiocytoma (AFH) is a rare pediatric soft-tissue tumor of intermediate malignancy, often misdiagnosed because of its resemblance to benign and malignant lesions. We report a 6-year-old child with a slowly enlarging subcutaneous nodule on the right forearm. Initial biopsy showed small, round cells positive for cluster differentiation 99. Complete excision revealed a circumscribed mesenchymal tumor with angiomatoid cavities and fibrous pseudocapsule. Immunohistochemistry and molecular studies confirmed AFH and excluded Ewing sarcoma. The patient remains disease-free after complete excision; prognosis is generally favorable with surgical management and long-term follow-up. This case highlights the diagnostic challenge of AFH and the importance of a comprehensive clinical, histological, immunohistochemical, and molecular analysis to avoid misdiagnosis.
Pachyonychia congenita (PC) is a rare genodermatosis characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, and oral leukokeratosis. We report the case of a 5-year-old boy with classical features of PC along with the rare co-occurrence of extensive miliaria crystallina, a combination reported only once previously. The patient presented with thickened nails from infancy, widespread follicular hyperkeratosis, recurrent summer-onset vesicular lesions, and oral leukokeratosis. Histopathology confirmed features of both PC and miliaria. Based on clinical, dermoscopic, and histopathological findings, a diagnosis of PC was established. The patient responded well to a combination of oral isotretinoin, urea-based keratolytics, and topical steroid-antibiotic therapy. This case highlights a rare and unusual presentation of PC and underscores the importance of recognizing such associations for accurate diagnosis and management.
Epidermodysplasia verruciformis (EDV) is a rare autosomal recessive disorder marked by persistent beta human papilloma virus (HPV) infections. The pathogenesis involves mutations in TMC6 and TMC8, disrupting keratinocyte immunity and facilitating HPV proliferation. The EVER1-EVER2-CIB1 complex, integral to zinc regulation in keratinocytes, is compromised, allowing viral persistence. This case report details two brothers with inherited EDV, notable for the presence of alpha HPV types 6 and 11, which is atypical for EDV. The younger sibling exhibited widespread flat-topped papules and plaques since age three, with histopathology confirming EDV. Whole genome sequencing revealed a homozygous missense mutation (p.Gly682Val) in exon 17 of the TMC6 gene, a novel finding not previously documented. The older brother presented with similar lesions from age two; however, genetic testing was not performed due to financial constraints.
Localized myxedema is most commonly described in patients with hyperthyroidism, especially Graves' disease, but rarely may also be present in patients with hypothyroidism. Myxedema generally appears as indurated plaques localized on the shins; it has also been rarely reported in other areas such as the face, shoulders, arms, and abdomen. Here, we report a case of extensive preradial and pretibial myxedema in a 14-year-old boy with hypothyroidism. After starting treatment with thyroxine, there was remarkable improvement within 4 months. Preradial myxedema is a rare presentation with only a few cases reported.
Introduction:Epidermolysis bullosa (EB) is a genetic disorder, characterized by blistering in the skin and mucosal membranes following minor trauma. The objective was to determine the clinico-epidemiological profile of EB patients with emphasis on types of EB, associated nutritional deficiencies, and other complications.Materials and Methods:This retrospective and record-based study included all pediatric EB patients who presented to the dermatology outpatient department at a tertiary care hospital in Northern India from January 2022 to December 2024. As per the predesigned clinical pro forma, a detailed evaluation was done including history, clinical characteristics of EB, and results of investigations including complete blood count, serum Vitamin D, and Vitamin B12. For definitive diagnosis of EB subtype, all patients were subjected to antigen mapping.Results:Records of 18 children were analyzed, of which 11 (61.11%) were male and 7 (38.88%) were female. The most common subtype was EB simplex. Family history of EB was present in 22.22% patients. Nails and teeth were involved in 9 (50%) and 5 (27.77%) patients, respectively. Malnutrition was detected in 8 (44.44%) patients. Hematological tests revealed anemia in 14 (77.77%) patients. Total protein and albumin were low in 9 (50%) and 7 (38.88%) patients, respectively. Serum Vitamin B12 and Vitamin D were deficient in 12 (66.6%) and 14 (77.77%) patients, respectively.Conclusions:Patients of EB have multiple deficiencies such as Vitamin D, Vitamin B12, total protein, and albumin. Anemia and malnutrition were also common in these patients. This study also highlighted the need for multidisciplinary approach in the management of EB.
Atopic dermatitis (AD) represents one of the most common chronic inflammatory skin conditions in infancy and early childhood, affecting 15%–30% of children globally with a significant impact on quality of life for patients and families. Recent evidence has fundamentally challenged traditional paradigms regarding the relationship between AD and food allergy, revealing a complex bidirectional interaction where early-onset AD significantly increases the risk of developing food allergies through epicutaneous sensitization. The “dual-allergen exposure hypothesis” proposes that cutaneous exposure to food allergens through a disrupted skin barrier in AD promotes allergic sensitization, whereas early oral introduction may induce tolerance. This paradigm shift has profound implications for preventive strategies and clinical management in pediatric populations. This narrative review synthesizes current evidence on the mechanistic links between AD and food allergy, examining epidemiological data demonstrating that infants with moderate-to-severe AD have substantially elevated risks for developing immunoglobulin E-mediated food allergies, particularly to eggs, peanuts, and milk. We explore the role of filaggrin mutations and other genetic factors, environmental influences, including the skin microbiome, and the impact of topical therapies on food allergy prevention. Recent landmark studies, including PETIT, EAT, and LEAP trials, have transformed clinical recommendations regarding the timing of allergenic food introduction. The review examines practical screening approaches for identifying high-risk infants, evidence-based management strategies for optimizing skin barrier function, controversies surrounding prophylactic food allergen avoidance, and emerging therapeutic interventions targeting the atopic march. Understanding these interconnections enables pediatricians and dermatologists to implement evidence-based preventive strategies that may interrupt the progression from AD to systemic allergic diseases.
