Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

Mamaï, Ons; Boussofara, L.; Denguezli, M.; Escande‐Beillard, Nathalie; Kraeim, Wahiba; Merriman, Barry; Charfeddine, Ilhem Ben; Stevanin, Giovanni; Bouraoui, S.; Amara, Abdelbasset; Mili, Ali; Nouira, R.; Hmida, D.; Sriha, Badreddine; Gribaa, Moez; Saâd, Ali; Reversade, Bruno

doi:10.1038/jid.2014.311

Cited by 24 publications

(30 citation statements)

References 14 publications

(14 reference statements)

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“…Other PPKs are associated with gingival keratosis and/or oesophageal cancer. Within the group, ocular manifestations distinguish PPK with corneal intraepithelial dyskeratosis, currently named multiple self‐healing palmoplantar carcinoma (MSPC) syndrome …”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…In 2015, Mamai et al . reported an autosomal dominant syndrome characterized by the development of multiple palmoplantar and conjunctival keratoacanthomas.…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…However, these patients also manifest an increased susceptibility to malignant SCCs. For this syndrome, Mamai et al . proposed the term of multiple self‐healing palmoplantar carcinoma (MSPC).…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…Within the group, ocular manifestations distinguish PPK with corneal intraepithelial dyskeratosis, currently named multiple self-healing palmoplantar carcinoma (MSPC) syndrome. [29][30][31] Palmoplantar keratoderma with periodontitis due to CTSC mutation (Haim-Munk syndrome) HMS was first described by Haim and Munk in 1965 32 in members of a small Jewish community in India. It is a rare autosomal recessive disorder due to CTSC mutations.…”

Section: Palmoplantar Keratoderma With Prominent Mucosal Involvementmentioning

confidence: 99%

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Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

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Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…In 2015, Mamai et al . reported an autosomal dominant syndrome characterized by the development of multiple palmoplantar and conjunctival keratoacanthomas.…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

Section: Palmoplantar Keratoderma With Prominent Mucosal Involvementmentioning

confidence: 99%

See 2 more Smart Citations

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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“…The most common affected sites are the face and the extremities but KAs can arise anywhere on the body. When multiple lesions are present one should consider the possibility of syndromic conditions such as the Fergurson-Smith disease (A.K.A multiple self-healing squamous epithelioma) [10][11][12] , an autosomal dominant condition related to mutations of the TGFB-1 (transforming growth factor receptor 1) 13 and the Muir-Torre syndrome, which is part of the Lynch syndrome spectrum 14, 15 among others [16][17][18][19][20] . Among the KA variants is the giant form, with the size criterion being equal or more than 3 cm and the so-called KA centrifugum marginatum that exhibits persistent peripheral growth with central scarring 21 .…”

Section: Keratoacanthomamentioning

confidence: 99%

Cutaneous squamous cell carcinoma and related entities: Epidemiology, clinical and histological features, and basic science overview

Prieto-Granada¹,

Rodriguez‐Waitkus²

2015

Current Problems in Cancer

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Inflammasomes in epithelial innate immunity: front line warriors

Robinson,

Boucher

2024

FEBS Letters

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Our epithelium represents a battle ground against a variety of insults including pathogens and danger signals. It encodes multiple sensors that detect and respond to such insults, playing an essential role in maintaining and defending tissue homeostasis. One key set of defense mechanisms is our inflammasomes which drive innate immune responses including, sensing and responding to pathogen attack, through the secretion of pro‐inflammatory cytokines and cell death. Identification of physiologically relevant triggers for inflammasomes has greatly influenced our ability to decipher the mechanisms behind inflammasome activation. Furthermore, identification of patient mutations within inflammasome components implicates their involvement in a range of epithelial diseases. This review will focus on exploring the roles of inflammasomes in epithelial immunity and cover: the diversity and differential expression of inflammasome sensors amongst our epithelial barriers, their ability to sense local infection and damage and the contribution of the inflammasomes to epithelial homeostasis and disease.

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Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

Cited by 24 publications

References 14 publications

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Cutaneous squamous cell carcinoma and related entities: Epidemiology, clinical and histological features, and basic science overview

Inflammasomes in epithelial innate immunity: front line warriors

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