Gkolfinopoulos T, Ingen-Housz-Oro S, Cavelier-Balloy B, Blanchet-Bardon C
Service de Dermatologie I, Hôpital Saint-Louis, 1, avenue Claude Vellefaux, 75475 Paris.
Ann Dermatol Venereol. 2001 Dec;128(12):1330-3.
Schöpf-Schulz-Passarge's syndrome is a rare autosomal recessive genodermatosis associating hypodontia, palmoplantar keratoderma, cysts of the eyelid margins, onychodysplasia and hypotrichosis. We report two new cases.
Case no. 1: A 49 year-old woman complained of erosive and fissured palmoplantar keratoderma. Nails were fragile and dystrophic. Permanent teeth were absent. She also had many small cysts of the eyelid margins and a middle hypotrichosis. There was no consanguinity between her parents. Case no. 2: A 56 year-old man was seen for red, scaly and well marked palmoplantar keratoderma. Permanent teeth were absent. He had a hair loss since the age of 30. Nails were hypoplastic and there were many small cysts of the eyelids. Biopsy of one of the cysts showed a follicular cyst associated with sweat duct dystrophy. Schöpf-Schulz-Passarge's syndrome was diagnosed in these 2 patients. There was no evidence of associated cutaneous tumors.
Differential diagnosis of Schöpf-Schulz-Passarge syndrome include other genodermatoses comprising palmoplantar keratoderma and dental abnormalities. Benign or malignant tumors are frequently associated: eccrine poromas, eccrine syringofibroadenomas, follicular tumors, basal cell and squamous cell carcinomas. Tumors usually appear after the age of 60. Regular follow-up and biopsy of the suspect lesions are necessary.
舍普夫-舒尔茨-帕萨热综合征是一种罕见的常染色体隐性遗传性皮肤病，伴有牙发育不全、掌跖角化病、睑缘囊肿、甲发育异常和毛发稀少。我们报告两例新病例。
病例1：一名49岁女性，主诉掌跖有糜烂和裂隙性角化病。指甲脆弱且营养不良。恒牙缺失。她还患有许多睑缘小囊肿和中度毛发稀少。她的父母无血缘关系。病例2：一名56岁男性，因掌跖出现红色、鳞屑性且边界清晰的角化病前来就诊。恒牙缺失。他从30岁起开始脱发。指甲发育不全，眼睑有许多小囊肿。其中一个囊肿的活检显示为与汗腺导管营养不良相关的毛囊囊肿。这两名患者均被诊断为舍普夫-舒尔茨-帕萨热综合征。无相关皮肤肿瘤的证据。
舍普夫-舒尔茨-帕萨热综合征的鉴别诊断包括其他伴有掌跖角化病和牙齿异常的遗传性皮肤病。常伴有良性或恶性肿瘤：小汗腺汗孔瘤、小汗腺螺旋纤维腺瘤、毛囊肿瘤、基底细胞癌和鳞状细胞癌。肿瘤通常在60岁以后出现。对可疑病变进行定期随访和活检是必要的。
