Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome in a Young Malaysian Boy with MBTPS2 Mutation c.677G>T

Evelyn Wen Yee Yap; Kam‐Lun Ellis Hon; Henrietta Albela; Kin Fon Leong

doi:10.4103/ajpd.ajpd_8_25

October 17, 2025Asian journal of pediatric dermatology.

Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome in a Young Malaysian Boy with MBTPS2 Mutation c.677G>T

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Key Points

The case reveals a young boy diagnosed with ichthyosis follicularis, atrichia, and photophobia syndrome.
Genetic testing indicated a missense mutation, specifically c.677G>T, in the MBTPS2 gene.
Symptoms of this rare syndrome include follicular ichthyosis, generalized alopecia, and photosensitivity.
This report emphasizes the significance of genetic analysis in understanding rare syndromes and their mutations.

Implication

This report details a case of IFAP syndrome in a young boy, highlighting the associated MBTPS2 mutation.

Abstract

Ichthyosis follicularis, Atrichia, and Photophobia (IFAP) syndrome is a rare genetic disorder characterized by a triad of follicular ichthyosis, nonscarring generalized alopecia, and photosensitivity. We report a case of a young boy of Indian descent diagnosed with IFAP syndrome, with missense mutation c.677G>T in the MBTPS2 gene.

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Cite This Study

Yap et al. (2025) studied this question.

synapsesocial.com/papers/68f58f68ece7a5b64f47154f https://doi.org/10.4103/ajpd.ajpd_8_25

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Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome in a Young Malaysian Boy with MBTPS2 Mutation c.677G>T

Key Points

Implication

Abstract

Discussion

Cite This Study

Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome in a Young Malaysian Boy with MBTPS2 Mutation c.677G>T

Key Points

Implication

Abstract

Discussion

Cite This Study

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