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CLDN1-sEDD-NISCH

Previously: Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome)

sEDD Gene: CLDN1 AR

Onset: Birth

Pathway: Structural proteins

Category Paper: sEDD Paper

Key Clinical Clues

Mild fine scaling; coarse thick, curly hair with frontotemporal scarring alopecia.

Additional Cutaneous Features

Highly variable, may be erythrodermic at birth; loss of eyelashes and outer third of eyebrows.

Additional Extracutaneous Features

Neonatal jaundice with hepatomegaly; sclerosing cholangitis or congenital paucity of bile ducts.

References

Salik D, Hadj-Rabia S, Hohl D et al. Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome. Pediatr Dermato/2022; 39:590-3.

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