Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease

Schiller, S.; Seebode, Christina; Hennies, Hans Christian; Giehl, Kathrin; Emmert, Steffen

doi:10.1111/ddg.12418

Cited by 37 publications

(60 citation statements)

References 17 publications

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“…Stina-Schiller et al [74] note the importance of regular cleansing of the hands and feet, accompanied by mechanical keratolysis (with pumice stone or other abrasive surface). The same study suggests keratolytic therapy with topical urea-based ointments [74].…”

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confidence: 99%

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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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confidence: 99%

“…The same study suggests keratolytic therapy with topical urea-based ointments [74]. Given the increased risk of fungal infection in Mal de Meleda, some practitioners recommend prophylactic topical antifungals be used, while others elect to treat systemically as needed.…”

Section: Intron 1 (405 Bp) Intron 2 (526 Bp)mentioning

confidence: 99%

Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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“…Der Pathomechanismus der Tumorentstehung bei diesem Syndrom ist immer noch unbekannt. Die meisten anderen PPK-Syndrome sind nicht mit einem erhöhten Risiko für Hautkrebs assoziiert [3,4] …”

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Unguales Plattenepithelkarzinom bei einem Patienten mit Mal de Meleda

Baykal

Sarı

Uyguner

et al. 2016

J Deutsche Derma Gesell

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“…PPKs can be acquired through malnutrition, inflammatory disease, paraneoplastic effects or chemical exposure, but are most commonly inherited . Gain‐ or loss‐of‐function mutations in at least 25 genes have been implicated in hereditary PPK, although the total may be substantially higher (https://panelapp.genomicsengland.co.uk/WebServices/list_panels/). Examples include genes encoding ion channels, secreted proteins, adhesion molecules and keratins .…”

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confidence: 99%

“…Gain‐ or loss‐of‐function mutations in at least 25 genes have been implicated in hereditary PPK, although the total may be substantially higher (https://panelapp.genomicsengland.co.uk/WebServices/list_panels/). Examples include genes encoding ion channels, secreted proteins, adhesion molecules and keratins . Pain can be a prominent symptom of PPK and can significantly impact quality of life.…”

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confidence: 99%

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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Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease

Cited by 37 publications

References 17 publications

Mal de Meleda: A Focused Review

Mal de Meleda: A Focused Review

Unguales Plattenepithelkarzinom bei einem Patienten mit Mal de Meleda

Pain mechanisms in hereditary palmoplantar keratodermas

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