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一名西班牙裔患者的非典型梅勒达病

Atypical Mal de Meleda in a Hispanic Patient.

作者信息

Guevara Mónica, Mafla Michelle, Miño Camila

机构信息

Dermatology Service, Pablo Arturo Suarez Hospital, Ángel Ludeña y Machala Oe5261, 170702 Quito, Ecuador.

School of Medicine, Pontifical Catholic University of Ecuador, Ave 12 de Octubre 1076, 170143 Quito, Ecuador.

出版信息

Case Rep Dermatol Med. 2023 Sep 14;2023:6640311. doi: 10.1155/2023/6640311. eCollection 2023.

Abstract

Mal de Meleda (MDM) is a rare autosomal palmoplantar keratoderma (PPK) skin disorder (estimated incidence of 1 per 100,000 people) commonly associated with consanguinity and early childhood onset. MDM is characterized by bilateral diffusion of PPK plaques with delimited yellowish lesions that transgredien to the dorsum of the hands and feet. Additional features include nail dystrophy, lichenoid lesions, hyperhidrotic maceration, involvement of the knees and elbows, malodor, fungal superinfections, and digital constrictions. A male patient aged 42 years presented with asymptomatic, chronic, and diffused PPK lesions that progressed to the dorsal surface of the hands and feet, along with knees and elbows involvement. On clinical examination, asymmetrical lesions were observed on the hands, the left palm with yellowish waxy hyperkeratotic plaques, and the right palm with erythematous scaling and hyperkeratotic interphalangeal rings. The soles of the feet presented with yellow waxy hyperkeratotic plaques. In addition, nail dystrophy and loss of dermatoglyphics were observed. Initially, symptomatic topical treatment was established. However, owing to the lack of clinical response, a biopsy was performed, which revealed thickened corneal layer, acanthosis, spongiosis, and perivascular lymphohistiocytic infiltrate. MDM diagnosis was confirmed based on a personal history of consanguinity, clinical presentation with absence of systemic symptoms, and transgredien pattern of the lesions. Systemic treatment with low doses of isotretinoin (10 mg orally everyday) was initiated, and two months later, slight clinical improvement has been observed until date. The present case report describes MDM in a Hispanic patient, who presented with asymmetric PPK lesions on the hands and received isotretinoin treatment.

摘要

梅勒达病(MDM)是一种罕见的常染色体显性遗传性掌跖角化病(PPK)皮肤疾病(估计发病率为每10万人中有1例),通常与近亲结婚和儿童早期发病有关。MDM的特征是PPK斑块双侧扩散,伴有边界清晰的淡黄色病变,可蔓延至手足背部。其他特征包括甲营养不良、苔藓样病变、多汗性浸渍、膝盖和肘部受累、恶臭气味、真菌二重感染以及手指挛缩。一名42岁男性患者出现无症状、慢性和弥漫性PPK病变,病变进展至手足背部,同时累及膝盖和肘部。临床检查发现,双手有不对称病变,左手掌有淡黄色蜡样角化过度斑块,右手掌有红斑鳞屑和角化过度的指间环。足底有黄色蜡样角化过度斑块。此外,还观察到甲营养不良和皮肤纹缺失。最初,采用了对症的局部治疗。然而,由于缺乏临床反应,进行了活检,结果显示角质层增厚、棘层肥厚、海绵形成以及血管周围淋巴细胞和组织细胞浸润。基于近亲结婚的个人史、无全身症状的临床表现以及病变的蔓延模式,确诊为MDM。开始使用低剂量异维A酸(每天口服10毫克)进行全身治疗,两个月后,至今观察到有轻微的临床改善。本病例报告描述了一名西班牙裔患者的MDM,该患者双手出现不对称PPK病变并接受了异维A酸治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de9f/10513804/46456faa96ec/CRIDM2023-6640311.001.jpg

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