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SREBF1-sEDD

Previously: Ichthyosis, follicular, with atrichia and photophobia syndrome 2

sEDD Gene: SREBF1 AD

Onset: Birth

Pathway: Transcription factor

Category Paper: sEDD Paper

SREBF1-sEDD: typical bright red gingiva.

Key Clinical Clues

Follicular keratoses; sparse-to-no body hair; gingival erythema, fissured tongue.

Additional Cutaneous Features

Resembles mild MBTPS2-sEDD; sparse-to-no body hair (noncicatricial).

Additional Extracutaneous Features

Photophobia with corneal lesions.

References

Wang H, Humbatova A, Liu Y et al. Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome. Am J Hum Genet 2020; 107:34-45.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer