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CST6-sEDD-cicatricial

Previously: Keratosis follicularis spinulosa decalvans (KFSD)

sEDD Gene: CST6 AD

Onset: Birth

Pathway: Enzymes

Category Paper: sEDD Paper

Key Clinical Clues

Generalized, spiky, follicular-based scaling; facial erythema; alopecia progresses to scarring; dystrophic nails.

Additional Cutaneous Features

Pruritus; variable hypohidrosis.

Additional Extracutaneous Features

Conjunctivitis, cataract.

References

Eckl KM, Gruber R, Brennan L et al. Cystatin M/E variant causes autosomal dominant keratosis follicularis spinulosa decalvans by dysregulating cathepsins L and V. Front Genet 2021; 12:689940.

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