Masmoudi Abderrahmen, Chermi Zied Mohamed, Marrekchi Slaheddine, Raida Ben Salah, Boudaya Sonia, Mseddi Madiha, Jalel Meziou Taha, Turki Hamida
Department of Dermatology, Hedi Chaker University Hospital, 3029 Sfax, Tunisia.
J Dermatol Case Rep. 2011 Mar 26;5(1):8-13. doi: 10.3315/jdcr.2011.1063.
Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome.
Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed.
The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.
考登综合征是一种罕见的遗传性皮肤病，其特征是存在多个错构瘤。本研究的目的是明确考登综合征的临床、治疗和预后方面。
我们的研究包括4例考登综合征患者，2例男性和2例女性，年龄在14至46岁之间。皮肤临床检查发现面部丘疹（4例）、肢端角化病（1例）、半透明角化丘疹（2例）。口腔检查发现丘疹（4例）、乳头瘤病（4例）、牙龈肥大（4例）和阴囊舌（2例）。检查发现甲状腺病变（2例）、1例乳腺纤维囊性疾病和脂肪瘤、“糖原棘皮症”（1例）、巨头症（2例）、面部畸形（1例）和光泽苔藓（1例）。口服依曲替酯和阿维A在2例患者中暂时有效。外用维甲酸洗剂使1例患者的皮肤病变有所改善，但黏膜病变无改善。未发现癌症。
所有患者均发现了具有诊断意义的黏膜皮肤病变。然而，未发现退行性病变。发现考登综合征与光泽苔藓有新的关联。口服维甲酸类药物对皮肤病变有效。
