Back to Database

MBTPS2-sEDD-cicatricial alopecia

Previously: Keratosis follicularis spinulosa decalvans (KFSD)

sEDD Gene: MBTPS2 XL

Onset: Birth

Pathway: Transcription factor/protease

Category Paper: sEDD Paper

Key Clinical Clues

Generalized prominent follicular-based keratoses; cicatricial alopecia of the scalp, eyebrows and eyelashes.

Additional Extracutaneous Features

Photophobia; blepharitis/conjunctivitis; corneal dystrophy.

References

Aten E, Brasz LC, Bornholdt D et al. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. Hum Mutat 2010; 31:1125-33.

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

Clinical Trial Opportunities

This feature is coming soon.

Additional Resources

→ GeneCards → PubMed Search

Before you continue

This is a reference resource for clinicians and researchers. It is not medical advice or a diagnostic tool.

The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

If you are a patient, parent or carer, please speak to your doctor about any symptoms or concerns.

Read the full disclaimer

Patient support organisations