Ocular and dermatologic findings in two siblings with Mal de Meleda
Ocular and dermatologic findings in two siblings with Mal de Meleda
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DOI：
10.1097/00006982-199903000-00013
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发表时间：
1999-01-01
影响因子：
3.3
通讯作者：
Baysal, V
中科院分区：
文献类型：
--
作者：
Durmus, M;Bardak, Y;Baysal, V
讨论Mal de Meleda是一种罕见的遗传性弥漫性掌跖角化病。梅莱达病的诊断是基于强制性和兼性特征的存在。“* 强制性特征是常染色体隐性遗传，出生后不久即发生弥漫性掌跖角化病，以及角化病的越界和进行性特征。兼性特征为手掌和脚掌多汗;掌跖角化病中的凹陷;膝盖、肘部和腹股沟上的苔藓样多环斑块;指甲异常;指尖进行性圆锥形变细，这可能导致手指挛缩;口周红斑;肘部、膝盖和手背上的孤立纤维结节;高腭弓;和角膜异常，这可能是偶然的。“我们的病例包括两个必然的特征：出生后不久发病和常染色体隐性遗传。在我们的病例中，角皮病还没有扩散到手和脚的背侧，但考虑到他们的年龄很小，角皮病可能还没有进展。随着患者年龄的增长，角化过度通常会取代红斑。
DiscussionMal de Meleda is a rare hereditary, diffuse palmoplantar keratoderma. The diagnosis of mal de Meleda is based on the presence of obligatory and facultative features."* Obligatory features are autosomal recessive in-heritance, onset of diffuse palmoplantar keratoderma soon after birth, and transgressive and progressive characteristics of keratoderma. Facultative features are hyperhidrosis of palms and soles; pitting in the palmoplantar keratoderma; lichenoid polycyclic plaques over the knees, elbows, and groin; abnormalities of the nails; progressive conical tapering of the fingertips, which may lead to contracture of the fingers; perioral erythema; isolated fibrous nodules on elbows, knees, and dorsa of the hands; high arched palate; and corneal abnormalities, which may be incidental." Our cases include two obligatory features: onset soon after birth and autosomal recessive inheritance. In our cases, keratoderma have not spread to the dorsal aspects of hands and feet, but considering their young age, the keratoderma may not yet have pro-gressed. Hyperkeratosis generally replaces erythema as the patient ages.