Keratoacanthoma Familial

Last update 08 May 2025

Basic Info

Synonyms

ESS1, FORMERLY, Epithelioma, self-healing squamous, 1, FERGUSON-SMITH-TYPE EPITHELIOMA

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Introduction

A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

100 Clinical Results associated with Keratoacanthoma Familial

100 Translational Medicine associated with Keratoacanthoma Familial

0 Patents (Medical) associated with Keratoacanthoma Familial

211

Literatures (Medical) associated with Keratoacanthoma Familial

01 Mar 2025·American Journal of Clinical Dermatology

Publisher Correction to: Multiple Keratoacanthomas Associated with Genetic Syndromes: Narrative Review and Proposal of a Diagnostic Algorithm

Author: Gherghiceanu, Mihaela ; Tudorache, Gabriela ; Hulea, Ionela ; Ion, Daniela Adriana ; Fertig, Tudor Emanuel ; Dobre, Alexandra ; Harwood, Catherine ; Nedelcu, Roxana-Ioana ; Balasescu, Elena ; Struna, Irina ; Forsea, Ana-Maria ; Brinzea, Alice ; Turcu, Gabriela ; Ali, Alen

01 Feb 2025·BMJ Case Reports

Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz syndrome: a singleTGFBR1variant, two phenotypes in one patient

Article

Author: Battisti, Gladys ; Moeris, Emilie ; Lenne, Antoine ; Cambier, Nicolas

Multiple Self-Healing Squamous Epithelioma of Ferguson-Smith (OMIM 132800) is a syndrome increasing the risk of developing keratoacanthomas, which are locally aggressive skin tumours. Loeys-Dietz syndrome is a connective tissue disease characterised by arterial fragility. There is no increased risk of skin tumours classically described.Both phenotypes have been associated with a different pathogenic variant of theTGFBR1gene involved in the TGFbeta signalling pathway. We present the case of a patient with both phenotypes. This appears to be caused by a single likely pathogenic variant withinTGFBR1: c.1421G>A (p.Cyst474Tyr) in the protein domain of the serine-threonine protein kinase.This is the fourth reported case exhibiting this dual clinical presentation with a single genetic variant in this same region.

01 Jan 2025·American Journal of Clinical Dermatology

Multiple Keratoacanthomas Associated with Genetic Syndromes: Narrative Review and Proposal of a Diagnostic Algorithm

Review

Author: Gherghiceanu, Mihaela ; Tudorache, Gabriela ; Hulea, Ionela ; Ion, Daniela Adriana ; Dobre, Alexandra ; Fertig, Tudor Emanuel ; Harwood, Catherine ; Nedelcu, Roxana-Ioana ; Balasescu, Elena ; Struna, Irina ; Forsea, Ana-Maria ; Brinzea, Alice ; Turcu, Gabriela ; Ali, Alen

Keratoacanthoma (KA) is a relatively common, fast-growing epithelial tumour, with characteristic behaviour and clinical variability. Although it appears as a solitary lesion in a majority of cases, multiple KAs do occur, secondary to skin exposure to ultraviolet radiation, chemical carcinogens or certain medications, but may also be associated with various genetic syndromes. Thus, multiple KAs may serve as an early clinical alarm sign. Prompt diagnosis of the underlying cause and identification of the mechanism of development are critical for the secondary prevention of associated organ disorders or neoplasias, the improvement of patient quality of life and familial counselling. Although research in this field has seen important progress in the last few years, there are still many pathogenic processes that have not been elucidated. Additionally, the literature on this topic is limited to individual case reports and small case series, making it difficult for clinicians to parse available data and select the essential information. Therefore, this work aims to review current knowledge, summarizing existing studies, with focus on multiple KAs associated with genetic syndromes, and proposes a diagnostic algorithm for these rare cases to help guide clinicians in their practice. Lastly, we aim to highlight the main gaps in understanding the underlying mechanisms and suggest further research avenues.

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Keratoacanthoma Familial

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