Sravanthi A, Srivalli P, Gopal K V T, Rao T Narayana
Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.
Indian Dermatol Online J. 2016 Jul-Aug;7(4):278-80. doi: 10.4103/2229-5178.185463.
Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails. Follicular hyperkeratotic papules and steatocystoma multiplex were also observed over the scalp and face. The patient had history of natal teeth and on dental examination, lower central incisors were absent. All cutaneous changes in our case had manifested first in the 2(nd) decade except for natal teeth. All the above features suggested the diagnosis of pachyonychia congenita with late onset (PC tarda), which is an infrequently reported rare variant.
先天性厚甲症是一种罕见的外胚层发育不良类型,进一步分为4种类型。大多数先天性厚甲症病例的皮肤表现包括掌跖角化病、毛囊角化过度、楔形甲、口腔黏膜白斑和羊毛状发。一名25岁男性前来就诊,其指甲增厚且头皮毛发稀少。检查时,我们注意到双足底有角化过度斑块、掌跖多汗和发黄变色,所有指甲均有楔形甲伴甲下角化过度。头皮和面部也观察到毛囊角化过度丘疹和多发性皮脂囊肿。该患者有诞生牙病史,牙科检查发现下颌中切牙缺失。除诞生牙外,本例所有皮肤改变均在第二个十年首次出现。上述所有特征提示诊断为迟发性先天性厚甲症(PC tarda),这是一种罕见且报道较少的变异型。