局灶性真皮发育不全一例

A case of focal dermal hypoplasia

患者男，17岁，出生时即出现多发条纹状红色斑片和丘疹，红色斑片菲薄易破，愈后遗留色素减退斑片。右手第1、2指指甲发育不全。随年龄增长逐渐出现泛发线状或漩涡状色素沉着条纹，部分黄红色丘疹增大形成斑块。于儿童期始逐渐出现多发的乳头瘤样皮损，以口周为著。皮肤科检查：全身泛发线状或漩涡状的色素沉着斑片，以躯干为著，其间散在色素减退斑片与黄红色斑块。口周、下颌及右胭窝多发乳头瘤样皮损。皮损组织病理检查：表皮角化不全，真皮厚度显著变薄，真皮乳头层血管增多，皮下脂肪层上移。诊断：局灶性真皮发育不全。

A 17-year-old boy presented with multiple striated erythema and papules at birth. The erythema was fragile, easily damaged, and often healed leaving hypopigmented patches. The right first and second finger nails were hypoplastic. Generalized linear or whorled hyperpigmented patches gradually developed, and some yellow-pink papules enlarged into plaques with age. Multiple papillomatous papules appeared during childhood, which were mainly distributed in the perioral region. Skin examination revealed widespread linear or whorled hyperpigmented patches intermingled with scattered hypopigmented patches and yellow-pink plaques, which were mainly located in the trunk. Multiple papillomatous papules were observed in the perioral region, mandibular region, and right popliteal fossa. Skin biopsy showed epidermal parakeratosis, diminished dermal thickness, increased blood vessel density in dermal papillae, upward migration of subcutaneous fat layer known as ＂fat herniation＂. A diagnosis of focal dermal hypoplasia was made.