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ASPRV1-nEDD

Previously: Autosomal dominant lamellar ichthyosis

nEDD Gene: ASPRV1 AD

Onset: Birth

Pathway: Enzymes

Category Paper: nEDD Paper

ASPRV1-nEDD: large lamellated scaling on the legs of a boy with skin of colour.

Key Clinical Clues

Generalized large and plate-like scales with PPK, absent or mild erythema; some milder cases resemble FLG-nEDD.

Additional Cutaneous Features

Severe hyperlinearity of palms and soles.

References

Boyden LM, Zhou J, Hu R et al. Mutations in ASPRV1 cause dominantly inherited ichthyosis. Am J Hum Genet 2020; 107:158-63.

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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