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ST14-sEDD

Previously: Ichthyosis-hypotrichosis syndrome

sEDD Gene: ST14 AR

Onset: Birth

Pathway: Enzymes

Category Paper: sEDD Paper

Key Clinical Clues

Generalized desquamative scaling; follicular atrophoderma; short, light-coloured, sometimes curly hair.

Additional Cutaneous Features

Generalized desquamative scaling overlying variable erythema; hypohidrosis.

Additional Extracutaneous Features

Photophobia and blepharitis (often not present).

References

Alef T, Torres S, Hausser I et al. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol 2009; 129:862-9.

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