Early-onset Pachyonychia Congenita with Oral and Cutaneous Manifestations

伴有口腔和皮肤表现的早发性先天性厚甲症

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Abstract

An 11-year-old girl presented with painful plantar hyperkeratosis and nail dystrophy, evident since infancy. Examination revealed hyperkeratotic plaques on the soles, wedge-shaped nail hypertrophy, follicular hyperkeratosis over the extremities, and oral leukokeratosis. A positive maternal history suggested autosomal dominant inheritance with variable expressivity, consistent with pachyonychia congenita. Fungal infection was excluded via KOH mount; genetic testing was unavailable due to financial constraints. Despite prior treatments with keratolytics and emollients, improvement was minimal. This case highlights the early onset, classical features, and psychosocial burden associated with pachyonychia congenita, emphasizing the importance of early diagnosis, genetic counseling, and supportive care.

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