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Article

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.

Dermatology (Basel, Switzerland) - 1 Jan 2015

Panmontha Wipa, Rerknimitr Pawinee, Yeetong Patra, Srichomthong Chalurmpon, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Familial comedones without dyskeratosis are a rare autosomal dominant skin disorder, characterized by the occurrence of comedones that are distributed all over the body with specific features. We have previously reported two Thai families with familial comedones with expanded phenotypic spectrum. However, its genetic defect and pathogenesis remain unknown. OBJECTIVE: To explore the molecular defect...

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PMID: 26044244
DOI: 10.1159/000382122

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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