Gefitinib: Dermatitis: case report

吉非替尼:皮炎:病例报告

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Abstract

Nicolaides‑Baraitser syndrome (NBS) is an ultrarare SMARCA2‑related neurodevelopmental disorder, whose cutaneous hallmarks traditionally include early hypotrichosis and coarse, sparse scalp hair. We describe a four‑year‑old girl with genetically confirmed NBS who presented with years‑long, worsening eczematous dermatitis and diffuse, non‑scarring alopecia that far exceeded the baseline hypotrichosis described in the syndrome. Clinical examination revealed erythematous, lichenified patches distributed across the trunk, extremities, and flexural creases, accompanied by generalized scalp thinning without follicular dropout or scarring. Standard emollient care and low‑ to mid‑potency topical corticosteroids had provided only transient relief; a step‑up regimen was initiated consisting of twice‑daily mometasone cream for flares, tacrolimus 0.03 % ointment for maintenance, wet‑wrap therapy, oral antihistamines, and barrier‑repair moisturizers. Hair‑loss management included nightly topical mometasone solution and ketoconazole shampoo, together with multivitamin supplementation. The constellation of severe atopic dermatitis and progressive alopecia in this patient suggests that SMARCA2 dysfunction may compromise epidermal barrier integrity and hair‑follicle cycling, rendering affected children particularly susceptible to eczematous inflammation and telogen shift. Early dermatologic recognition and aggressive barrier‑focused therapy are therefore pivotal for mitigating pruritus, preventing secondary infection, and improving quality of life in NBS. This case broadens the dermatologic phenotype of NBS and underscores the need for prospective studies to clarify genotype-phenotype correlations and guide targeted interventions for skin and hair involvement in this syndrome.

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