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遗传性掌跖角化病的一种不同表现:创伤性截肢后残肢出现新的皮肤病变

A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation.

作者信息

Adıgüzel Emre, Yüksel Emine, Safaz İsmail, Kenan Tan Arif

机构信息

Emre Adıgüzel, MD, TSK Rehabilitasyon Merkezi, 06530 Bilkent Ankara, Turkey;

出版信息

Acta Dermatovenerol Croat. 2016 Jun;24(2):137-9.

PMID:27477174
Abstract

Mal de Meleda is a rare autosomal recessive skin disease which is known as keratoderma palmoplantaris transgradiens. Here we report a case of Mal de Meleda who had skin lesions in the residual limb and pseudoainhum in the thigh after traumatic lower leg amputation. A 71-year-old female was admitted to our tertiary hospital for prosthetic rehabilitation. On the physical examination, thickening of the skin on palms, left sole and residual limb was present. The patient reported that she had these skin lesions since infancy and she realized new skin lesions after amputation in the residual limb. We requested dermatology consultation and she was diagnosed as Mal de Meleda. To our knowledge, this is the first Mal de Meleda case in the literature with new lesions at the residual limb. Although exact pathophysiological mechanisms are not well known in Mal de Meleda, prosthesis use might have accelerated disease process in our patient.

摘要

梅勒达病是一种罕见的常染色体隐性皮肤病,被称为进行性掌跖角化病。在此,我们报告一例梅勒达病患者,其在小腿外伤性截肢后残肢出现皮肤病变,大腿出现假并指。一名71岁女性因假肢康复入住我们的三级医院。体格检查发现手掌、左脚底和残肢皮肤增厚。患者报告自婴儿期就有这些皮肤病变,截肢后残肢出现了新的皮肤病变。我们请皮肤科会诊,她被诊断为梅勒达病。据我们所知,这是文献中首例残肢出现新病变的梅勒达病病例。尽管梅勒达病的确切病理生理机制尚不清楚,但使用假肢可能加速了我们这位患者的疾病进程。

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1
A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation.遗传性掌跖角化病的一种不同表现:创伤性截肢后残肢出现新的皮肤病变
Acta Dermatovenerol Croat. 2016 Jun;24(2):137-9.
2
Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features.梅勒达病:隐性过度性掌跖角化病,具有三种不寻常的兼性特征。
Dermatology. 1992;184(1):78-82. doi: 10.1159/000247506.
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[Acral melanoma in a patient with hereditary keratoderma of the palms and soles (mal de Meleda): A chance association?].[一名患有掌跖遗传性角化病(梅勒达病)患者的肢端黑色素瘤:偶然关联?]
Ann Dermatol Venereol. 2019 Nov;146(11):730-736. doi: 10.1016/j.annder.2019.08.013. Epub 2019 Sep 30.
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[Mal de Meleda. 16 cases].[梅勒达病。16例]
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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.
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Transgradient Variant of Mal De Meleda Presenting As Palmoplantar Keratoderma: A Case Report.表现为掌跖角化病的Meleda病的移行性变异型:1例报告
Cureus. 2024 May 20;16(5):e60717. doi: 10.7759/cureus.60717. eCollection 2024 May.
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Pediatr Dermatol. 1997 May-Jun;14(3):186-91. doi: 10.1111/j.1525-1470.1997.tb00234.x.
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Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified.一名被鉴定出存在新基因突变的梅勒达病患者。
Eurasian J Med. 2019 Jun;51(2):206-208. doi: 10.5152/eurasianjmed.2018.18215. Epub 2018 Nov 30.
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Mal de Meleda: A Focused Review.遗传性少毛症:聚焦综述。
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Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.在一个爪哇家族中发现了 Mal de Meleda 的新型纯合 SLURP1 突变。
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