LSS-pEDD

Previously: PPK and congenital alopecia 2

pEDD Gene: LSS AR

Onset: Childhood

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

Focal-to-diffuse keratoderma of palms and soles associated with various other features, including alopecia, cataracts, pseudoainhum and agenesis of the corpus callosum.

Additional Cutaneous Features

Focal-to-diffuse keratoderma, alopecia, pseudoainhum

Additional Extracutaneous Features

Cataracts, agenesis of the corpus callosum

References

Yang F, Jiang X, Zhu Y et al. Biallelic variants in lanosterol synthase (LSS) cause palmoplantar keratoderma-congenital alopecia syndrome type 2. J Invest Dermatol 2022; 142.2687-94.

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