Tidman M J, Wells R S, MacDonald D M
J Am Acad Dermatol. 1987 May;16(5 Pt 1):935-40. doi: 10.1016/s0190-9622(87)70117-0.
Two kindreds manifesting an unusual form of pachyonychia congenita are described. Clinical involvement consists of nail dystrophy, which tends to improve with age, and moderate palmoplantar hyperkeratosis. In addition, all affected members show a characteristic pattern of cutaneous hyperpigmentation, which resembles macular amyloidosis around the neck and waist, but which confers a dappled appearance to the axillae, popliteal fossae, thighs, buttocks, and lower aspect of the abdomen. With advancing age the pigmentation fades. Histologic and ultrastructural examination of the hyperpigmented skin has revealed pigmentary incontinence and deposition of amyloid within the papillary dermis. These features appear to constitute a distinct variant of pachyonychia congenita.
本文描述了两个表现出一种不寻常先天性厚甲症形式的家族。临床症状包括甲营养不良，其往往随年龄增长而改善，以及中度掌跖角化过度。此外，所有受影响的成员都表现出一种特征性的皮肤色素沉着模式，颈部和腰部周围类似于斑状淀粉样变，但腋窝、腘窝、大腿、臀部和腹部下部呈现出斑驳外观。随着年龄增长，色素沉着会消退。对色素沉着皮肤的组织学和超微结构检查显示有色素失禁和乳头真皮内淀粉样物质沉积。这些特征似乎构成了先天性厚甲症的一种独特变体。
