Mal de Meleda: A Focused Review

Pérez, C. Collado; Khachemoune, Amor

doi:10.1007/s40257-015-0157-1

Cited by 39 publications

(47 citation statements)

References 63 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Frequently reported findings are hyperkeratotic lesions over the elbows and knees, perioral erythema, nail dystrophy (Fig. e,f) and conical tapering of fingers (Fig. e).…”

Section: Isolated Palmoplantar Keratodermasmentioning

confidence: 96%

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

View full text Add to dashboard Cite

The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations. To date, the diagnosis of the different hereditary PPKs is based mainly on clinical history and features combined with histopathological findings. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, and thus substantially contributed to elucidate the molecular basis of such a heterogeneous group of disorders. Here, we focus on hereditary non-syndromic isolated and complex PPKs. Syndromic PPKs are reviewed in the second part of this 2-part article, where other well-defined genetic diseases, which may present PPK among their phenotypic manifestations, are also listed and diagnostic and therapeutic approaches for PPKs are summarized.

show abstract

“…Frequently reported findings are hyperkeratotic lesions over the elbows and knees, perioral erythema, nail dystrophy (Fig. e,f) and conical tapering of fingers (Fig. e).…”

Section: Isolated Palmoplantar Keratodermasmentioning

confidence: 96%

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

View full text Add to dashboard Cite

show abstract

“…Mal de Meleda is a type of palmoplantar keratoderma (PPK) which has an autosomal recessive (AR) pattern of inheritance with an estimated prevalence of 1 case per 100,000 population [8]. The disease has been reported in many countries including Croatia, Algeria, Chile, China, Germany, India, Indonesia, Italy, Japan, Korea, Laos, Libya, The Netherlands, Pakistan, Saudi Arabia, Scotland, Sweden, Tunisia, Turkey, and the United Arab Emirates [3,9].…”

Section: Discussionmentioning

confidence: 99%

The first reported case of a variant of Mal de Maleda of the Gamborg-Nielsen type in an Egyptian origin patient

Al-Husain¹,

Al-Thubaiti²,

Alzahrani³

et al. 2018

Our Dermatol Online

View full text Add to dashboard Cite

How to cite this article: Al-Husain KM, Al-Thubaiti AA, Alzahrani FM, Bukhari IA, El-Shawarby M. The fi rst reported case of a variant of Mal de Maleda of the Gamborg-Nielsen type in an Egyptian origin patient. ABSTRACTMal de Meleda is a rare genodermatosis with an autosomal recessive inheritance. Mutations in the SLURP1 gene are the cause of this disease. Clinically, it is characterized by progressive palmoplantar hyperkeratosis exhibiting a transgradiens pattern extending to the dorsal aspects of the hands and feet in a glove and stocking pattern. It is also associated with hyperhidrosis, nail changes, subungual hyperkeratosis and perioral erythema. Here we report the first case of Gamborg-Nielsen variant of Mal de Meleda disorder in a patient of an Egyptian origin.

show abstract

“…Many other forms of PPK have been associated with pain, albeit with a frequency that varies among conditions. One example is Mal de Meleda (MDM), an autosomal recessive PPK attributable to loss‐of‐function mutations in the gene encoding secreted lymphocyte antigen 6/urokinase‐type plasminogen activator receptor‐related protein (SLURP)‐1, the diagnostic hallmarks of which include diffuse palmoplantar hyperkeratosis, nail anomalies, perioral erythema, odour and malignant melanoma . The case reports that describe pain as a symptom of MDM predominately attribute it to secondary fungal or microbial infection or to skin lesions that result from the hyperkeratosis .…”

Section: Additional Palmoplantar Keratodermas With Variable Prevalencmentioning

confidence: 99%

Pain mechanisms in hereditary palmoplantar keratodermas

Weinberg

Polydefkis

2019

Br J Dermatol

View full text Add to dashboard Cite

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.

show abstract

Mal de Meleda: A Focused Review

Cited by 39 publications

References 63 publications

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

The first reported case of a variant of Mal de Maleda of the Gamborg-Nielsen type in an Egyptian origin patient

Pain mechanisms in hereditary palmoplantar keratodermas

Contact Info

Product

Resources

About