Feinstein A, Friedman J, Schewach-Millet M
Department of Dermatology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
J Am Acad Dermatol. 1988 Oct;19(4):705-11. doi: 10.1016/s0190-9622(88)70226-1.
Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and mucous membranes. A thorough literature survey since its first description in 1904 up to 1985 revealed 168 cases of pachyonychia congenita. There were no indications of any sex or ethnic group predilection. Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and steatocystoma multiplex; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.
先天性厚甲症是一种罕见的遗传性疾病，主要特征为指甲肥厚以及皮肤和黏膜的角化异常。对1904年首次描述至1985年期间的文献进行全面检索，共发现168例先天性厚甲症病例。未发现有任何性别或种族倾向。基于该调查，建议如下分类：I型（占病例的56.2%），表现为指甲角化过度、掌跖角化病、毛囊角化病和口腔黏膜白斑；II型（占病例的24.9%），I型的临床表现加上掌跖大疱、掌跖多汗症、 natal或新生牙以及多发性皮脂囊肿；III型（占病例的11.7%），I型和II型的临床表现加上口角炎、角膜角化异常和白内障；IV型（占病例的7.2%），I型、II型和III型的临床表现加上喉部病变、声音嘶哑、智力发育迟缓、毛发异常和脱发。
