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

Year: 2025

Type: article

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.

Source: Asian journal of pediatric dermatology.

DOI: 10.4103/ajpd.ajpd_8_25

Authors: Evelyn Wen Yee Yap, Kam Lun Ellis Hon, Henrietta Albela, Kin Fon Leong

Institutions: Hong Kong Children's Hospital, Sarawak General Hospital, Ministry of Health

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Dermatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4415322855

FWCI:

Cites: 7

Cited by:

Related to: 10