进行性掌跖角化病一家系调查

Progressive palmoplantar keratoderma:a pedigree study

报告1例进行性掌跖角化病及其家系调查结果。先证者男,17岁。掌跖角化性斑块15年。皮肤科检查见双掌、跖部弥漫性角化性斑块,逾越至手背、足背,形成条状角化性斑块,并特征性累及足跟。皮损组织病理检查示表皮棘层及颗粒层肥厚伴显著正角化过度。诊断:进行性掌跖角化病。该家系4代中有4例该病患者(男3例,女1例),属常染色体显性遗传。

A family line investigation of progressive palmoplantar keratoderma is reported. The prohand was a 17-year-old male, who presented with asymptomatie hyperpigmented papules on the palms and soles for 15 years. Physical examination revealed diffuse keratoderma of the palms and soles extending to the back of the hands and dorsum of the feet, involved in the heel. Histopathological examination revealed hyperkeratosis,hypergranulosis and aeanthosis in the epidermis. A diagnosis of progressive palmoplantar keratoderma was established. Out of the 4 generations in the pedigree, four patients （3 males and 1 female） were identified, as dominant inheritance.