两例梅勒达病姐妹：病例系列报告

Two Sisters with Mal de Meleda: Case Series Report.

作者信息

Cebeci Dua, Karasel Seide, Bayraktaroglu Görgün

机构信息

Department of Dermatology and Venerology, Famagusta State Hospital, Famagusta, Cyprus.

Department of Physical Medicine and Rehabilitation, Famagusta State Hospital, Famagusta, Cyprus.

出版信息

Int J Appl Basic Med Res. 2022 Apr-Jun;12(2):151-154. doi: 10.4103/ijabmr.ijabmr_812_21. Epub 2022 May 10.

DOI:10.4103/ijabmr.ijabmr_812_21

PMID:35754677

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9215182/

Abstract

Mal de Meleda (MDM) is a rare autosomal recessive type of palmoplantar keratoderma that is characterized by transgradient keratoderma with scleroatrophy, pseudoainhum around the fingers, and perioral erythema. Its features may also include lichenoid lesions, brachydactyly, and nail dystrophy. The disease has high morbidity and significantly impairs quality of life. Here, we describe two sisters with typical clinical presentations of MDM and a history of consanguinity between the parents.

摘要

梅勒达病（MDM）是一种罕见的常染色体隐性遗传性掌跖角化病，其特征为进行性角化病伴硬化萎缩、手指周围假阿洪病和口周红斑。其特征还可能包括苔藓样病变、短指畸形和甲营养不良。该病发病率高，严重影响生活质量。在此，我们描述了两名患有典型MDM临床表现且父母有血缘关系的姐妹。