Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

doi:10.1111/cga.12457

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Article

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Congenital anomalies - 1 Mar 2022

Elhossini Rasha Moheb, Abdel-Hamid Mohamed S, Ashaat Engy, Otaify Ghada A, Dawoud Heba, Elshimy Khalid, El Ruby Mona, Aglan Mona

Abstract excerpt

Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. In addition to the typical clinical manifestations of the...

Topics

Acyltransferases
Codon, Nonsense
Focal Dermal Hypoplasia
Humans
Membrane Proteins
Mutation

Source

Open in PubMed

Identifiers

PMID: 34962003
DOI: 10.1111/cga.12457

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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