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Article

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.

European journal of dermatology : EJD - 1 Jan 2000

Pietrzak Aldona, Kanitakis Jean, Staśkiewicz Grzegorz, Sobczyńska-Tomaszewska Agnieszka, Dybiec Ewa, Szumiło Justyna, Kandzierski Grzegorz, Wawrzycki Bartłomiej, Chodorowska Grażyna

Abstract excerpt

BACKGROUND: Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature. OBJECTIVES: To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis. MATERIALS & METHODS: A 16-year-old male...

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Source

Identifiers

PMID: 22781927
DOI: 10.1684/ejd.2012.1772

Genes

MBTPS2

Variants

Provenance

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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IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.PMID 22781927Read ↗

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