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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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/26c784b322ec/IJABMR-12-151-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/71ed6598cbfa/IJABMR-12-151-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/6991091d37b5/IJABMR-12-151-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/26c784b322ec/IJABMR-12-151-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/71ed6598cbfa/IJABMR-12-151-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/6991091d37b5/IJABMR-12-151-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48f1/9215182/26c784b322ec/IJABMR-12-151-g003.jpg

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Atypical Mal de Meleda in a Hispanic Patient.一名西班牙裔患者的非典型梅勒达病
Case Rep Dermatol Med. 2023 Sep 14;2023:6640311. doi: 10.1155/2023/6640311. eCollection 2023.

本文引用的文献

1
A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.一名患有手足严重屈曲挛缩的Meleda病患者:华西医院的病例报告
Medicine (Baltimore). 2017 Sep;96(36):e7972. doi: 10.1097/MD.0000000000007972.
2
Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.遗传性掌跖角化病中突变型分泌性淋巴细胞抗原6/尿激酶受体相关蛋白1(SLURP1)特性的异质性。
Br J Dermatol. 2015 Oct;173(4):1066-9. doi: 10.1111/bjd.13868. Epub 2015 Aug 19.
3
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
突尼斯的特定 Meleda 病表型和地中海地区的突变创始效应。
Biomed Res Int. 2013;2013:206803. doi: 10.1155/2013/206803. Epub 2013 Sep 4.
4
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).弥漫性表皮松解性掌跖角化病(翁纳 - 托斯特型)
BMJ Case Rep. 2012 Nov 9;2012:bcr2012006443. doi: 10.1136/bcr-2012-006443.
5
Mal de meleda with lip involvement: a report of two cases.伴有唇部受累的梅勒达病:两例报告
Indian J Dermatol. 2012 Sep;57(5):390-3. doi: 10.4103/0019-5154.100497.
6
Mal de Meleda: a report of two cases of familial occurrence.梅勒达病:两例家族性发病报告。
An Bras Dermatol. 2011 Jul-Aug;86(4 Suppl 1):S100-3. doi: 10.1590/s0365-05962011000700026.
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Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal de Meleda).遗传性掌跖角化病(梅勒达病)区域发生的恶性黑色素瘤。
J Surg Oncol. 2003 Dec;84(4):229-33. doi: 10.1002/jso.10317.
8
[Palmoplantar keratosis with periodontal disease (Papillon-Lèfevre)].掌跖角化病伴牙周病(帕皮永-勒费弗尔病)
An Bras Dermatol. 1970 Jul-Sep;45(3):249-54.
9
Acitretin in the treatment of mal de Meleda.阿维A治疗梅勒达病
Br J Dermatol. 1992 Aug;127(2):191-2. doi: 10.1111/j.1365-2133.1992.tb08060.x.