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PHYH-sEDD

Previously: Refsum syndrome

sEDD Gene: PHYH AR

Onset: Childhood to adolescence

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

FLG-nEDD-like scaling with pigmentation.

Additional Cutaneous Features

Generalized polygonal scaling with accentuation of thickening at frictional areas; improves during adulthood.

Additional Extracutaneous Features

Retinitis pigmentosa; peripheral neuritis, anosmia; cerebellar ataxia, deafness; short metacarpals and metatarsals.

References

Rizzo WB. Inherited disorders of fatty alcohol metabolism. Mol Genet Metab 1998; 65:63-73.

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

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