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MBTPS2-sEDD-IFAP

Previously: IFAP syndrome with or without BRESHECK syndrome

sEDD Gene: MBTPS2 XL

Onset: Birth

Pathway: Transcription factor/protease

Category Paper: sEDD Paper

MBTPS2-sEDD-IFAP: erythematous to skin-coloured follicular-based papules are a characteristic cutaneous feature.

Key Clinical Clues

Generalized prominent follicular-based keratoses; noncicatricial alopecia universalis; PPK.

Additional Cutaneous Features

Can be born with collodion membrane (unusual); variable severity; psoriasiform plaques at frictional and periorificial areas (angular cheilitis); prominent nail dystrophy with periungual inflammation; hypohidrosis; may improve in early childhood.

Additional Extracutaneous Features

Photophobia, blepharitis/conjunctivitis, corneal dystrophy, sometimes enamel hypoplasia. Severe form (BRESHECK) has multiple congenital anomalies: brain anomalies, developmental delay, growth retardation, skeletal deformities, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, kidney dysplasia/hypoplasia.

References

Oeffner F, Fischer G, Happle R et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet 2009; 84:459-67.

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