Surana Trupti, Padhiar Bela, Karia Umesh, Pandya Purna
Department of Dermatology, GMERS Medical College, Civil Hospital, Gandhinagar, Gujarat, India.
Department of Dermatology, B. J. Medical College, Ahmedabad, Gujarat, India.
Indian Dermatol Online J. 2016 Jul-Aug;7(4):288-9. doi: 10.4103/2229-5178.185466.
Palmoplantarkeratodermas (PPKs) are a heterogeneous group of hereditary and acquired disorders with underlying gene defects, and characterized by hyperkeratosis of palms and soles with or without other ectodermal and systemic abnormalities. Huriez syndrome is a rare autosomal dominant transgradient type of PPK with high frequency of squamous cell carcinoma in the affected skin. We hereby describe a case of a very rare autosomal dominant PPK in a 40-year-old male patient presenting since birth with PPK extending onto the dorsal aspects of hands and feet with peeling of the skin. The complaints were associated with sclerodactyly, hyperhidrosis, and nail abnormalities. Also superadded dermatophyte infection was observed involving abdomen. No history of loss of any digit. No mucosal, dental, or any systemic involvement was present. No sign of malignancy was noted. Baseline investigations, including ultrasonography of abdomen were normal. Histological findings were nonspecific with only orthohyperkeratosis and acanthosis. Diagnosis was mainly done on clinical grounds. The patient is better with oral retinoids and topical emollients and keratolytics along with antifungal treatment for dermatophyte infection. He is under follow up.
掌跖角化病（PPK）是一组由潜在基因缺陷引起的遗传性和获得性疾病，其特征为掌跖角化过度，可伴有或不伴有其他外胚层和全身异常。Huriez综合征是一种罕见的常染色体显性渐变型PPK，在受累皮肤中鳞状细胞癌发生率较高。我们在此描述一例非常罕见的常染色体显性PPK病例，患者为40岁男性，自出生起就患有PPK，病变延伸至手足背部，伴有皮肤脱屑。患者伴有指（趾）硬皮病、多汗症和指甲异常。还观察到腹部有叠加的皮肤癣菌感染。无任何手指缺失史。无黏膜、牙齿或任何全身受累情况。未发现恶性肿瘤迹象。包括腹部超声在内的基线检查均正常。组织学检查结果无特异性，仅见正角化过度和棘层肥厚。诊断主要基于临床依据。患者口服维甲酸、外用润肤剂和角质溶解剂，并接受皮肤癣菌感染的抗真菌治疗后病情好转。患者正在接受随访。
