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CASP14-nEDD

Previously: Lamellar ichthyosis, ARCI

nEDD Gene: CASP14 AR

Onset: Childhood

Pathway: Enzymes

Category Paper: nEDD Paper

Key Clinical Clues

Generalized fine whitish scales, similar to FLG-nEDD.

Additional Cutaneous Features

Only three patients from two families reported.

References

Kirchmeier P, Zimmer A, Bouadjar B et al. Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosornal recessive inherited ichthyosis. Acta Derm Venereol 2017; 97:102-4.

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