Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants

June 2021 in “ The journal of investigative dermatology/Journal of investigative dermatology ”

Chiaki Murase, Takuya Takeichi, Toshifumi Nomura, Tomoo Ogi, Masashi Akiyama

ichthyosis follicularis atrichia photophobia SREBF1 lipid biosynthesis hereditary mucoepithelial dysplasia autosomal-dominant IFAP syndrome SREBP1 signaling

Studysummary This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

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research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations , July 2020 in “American journal of human genetics”

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

research Ichthyosis Follicularis with Alopecia and Photophobia in a Mother and Daughter

36 citations , January 2000 in “British journal of dermatology/British journal of dermatology, Supplement”

This case study reports on a mother and daughter with ichthyosis follicularis, alopecia, and photophobia, noting consistent keratotic eruptions during the mother's pregnancies that improved postpartum.