Su W P, Chun S I, Hammond D E, Gordon H
Department of Dermatology, Mayo Clinic, Rochester, MN 55905.
Pediatr Dermatol. 1990 Mar;7(1):33-8. doi: 10.1111/j.1525-1470.1990.tb01070.x.
Twelve cases of pachyonychia congenita were reviewed. The mode of inheritance was autosomal dominant. The clinical features of these patients included thickened nails, hyperkeratosis of the palms and soles, thinning of hair or alopecia, painful bullae or ulcerations of the palms and soles, leukokeratosis oris, verrucous lesions of the extremities, hyperhidrosis, premature eruption of teeth, paronychial infections, epidermal cysts with milia, and corneal dyskeratosis at times associated with cataracts. Biopsy from the plantar lesions usually revealed marked hyperkeratosis, acanthosis, moderate hypergranulosis, and minimal dermal inflammatory infiltration. Treatment with keratolytic agents and lubricants is indicated to areas of palmar and plantar hyperkeratosis but usually produces only transient benefit. Squamous cell carcinoma developed in one of the patients over the site of chronic plantar ulcerations. Areas of chronic bullous formation or ulceration should be observed for possible skin malignancy.
回顾了12例先天性厚甲症病例。其遗传方式为常染色体显性遗传。这些患者的临床特征包括指甲增厚、掌跖角化过度、头发稀疏或脱发、掌跖部疼痛性大疱或溃疡、口腔黏膜白斑、四肢疣状病变、多汗、牙齿过早萌出、甲沟炎、伴有粟丘疹的表皮囊肿，以及有时与白内障相关的角膜角化不良。足底病变活检通常显示明显的角化过度、棘层肥厚、中度颗粒层增厚和轻微的真皮炎症浸润。对于掌跖角化过度区域，建议使用角质溶解剂和润滑剂进行治疗，但通常仅产生短暂的益处。其中1例患者在慢性足底溃疡部位发生了鳞状细胞癌。应观察慢性大疱形成或溃疡区域是否可能发生皮肤恶性肿瘤。
