Mal de Meleda: relato de 2 casos de ocorrência familiar

Silva, Fernanda Ayres de Morais e; Cunha, Thiago Vinicius Ribeiro da; Boeno, Elisangela dos Santos; Steiner, Denise

doi:10.1590/s0365-05962011000700026

An. Bras. Dermatol.

2011

DOI: 10.1590/s0365-05962011000700026

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Mal de Meleda: relato de 2 casos de ocorrência familiar

Fernanda Ayres de Morais e Silva

Thiago Vinicius Ribeiro da Cunha

Elisangela dos Santos Boeno

et al.

Abstract: Mal de Meleda is a rare transgressive palmoplantar keratoderma with an estimated prevalence of 1 in 100,000 individuals. It was first described in 1826 by Stulli on the island of Mljet. Its autosomal recessive inheritance was described in 1938, and the defective gene was localized to chromosome 8 qter in 1998. Clinical features are the result of abnormal palmoplantar keratinization and include severe symmetrical transgressive hyperkeratosis and erythema of the feet and hands in a glove-and-sock pattern. Geneti… Show more

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Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of hyperkeratosis of the palms and soles. The disease can feature other potentially disfiguring effects on the hands and feet that can severely impact function. Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis. Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated in Mal de Meleda. SLURP-1 is involved in mediation of inflammation as well as keratinocyte apoptosis regulation. Because the disease is so rare, there are no set guidelines for management, but the accepted approach tends to include oral acitretin plus topical keratolytic therapy. Genetic counseling should also be offered. This focused review highlights the clinical and histological features, differential diagnoses, genetic background, and the current thoughts on management of Mal de Meleda.

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Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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Pain mechanisms in hereditary palmoplantar keratodermas

Weinberg

Polydefkis

2019

Br J Dermatol

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Summary Background Palmoplantar keratodermas (PPKs) are a heterogeneous group of skin disorders characterized by thickening of the epidermis on the palms of the hands and soles of the feet. Individuals with PPKs report varying degrees of palmoplantar pain that can severely affect quality of life. Objectives To provide an overview of the scope of pain in hereditary PPKs and highlight candidate mechanisms underlying this pain. Methods In this review, we discuss several forms of hereditary PPKs, with a focus on the incidence, nature, candidate underlying mechanisms and treatment of pain in these conditions. We also synthesize this information with current understanding of the mechanisms contributing to pathological pain in other conditions. Results Pain is a major problem for many, but not all individuals with hereditary PPK. This pain remains poorly understood, inconsistently reported and inadequately treated. The heterogeneity of pain prevalence and presentations across the many forms of PPK suggests that there may exist corresponding heterogeneity in the cellular and molecular mechanisms that drive and shape PPK‐associated pain. Some candidate mechanisms include structural (e.g. fissures and blisters), infectious and immune/inflammatory processes. However, a growing body of evidence also supports the occurrence of localized neuropathic alterations in the affected skin of individuals with PPK, which might contribute to their pain. Conclusions Greater understanding of these diverse mechanisms may provide a rational basis for the development of improved and targeted approaches to prevention and treatment of pain in individuals with PPK. What's already known about this topic? Pain is a prominent symptom in hereditary palmoplantar keratodermas (PPKs). Pain in patients with PPK can be difficult to treat. Pain mechanisms in PPKs are poorly understood. What does this study add? This study defines multiple potential sources of pain in PPK, including both structural lesions (fissures, blisters) and specific cell types. This review highlights the variability of pain among several forms of hereditary PPK. This study provides mechanistic insights into how neuropathic and inflammatory mechanisms might contribute to pain in some forms of PPK.

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Two sisters with mal de meleda: Case series report

Cebeci¹,

Karasel²,

Bayraktaroglu³

2022

Int J App Basic Med Res

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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.

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Mal de Meleda: relato de 2 casos de ocorrência familiar

Cited by 3 publications

References 10 publications

Mal de Meleda: A Focused Review

Mal de Meleda: A Focused Review

Pain mechanisms in hereditary palmoplantar keratodermas

Two sisters with mal de meleda: Case series report

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