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CLDN10-sEDD

Previously: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia (HELIX) syndrome

sEDD Gene: CLDN10 AR

Onset: Childhood

Pathway: Structural proteins

Category Paper: sEDD Paper

Key Clinical Clues

Dry skin, fine scaling, palmar hyperlinearity and PPK; generalized hypohidrosis or anhidrosis.

Additional Extracutaneous Features

Renal dysfunction, electrolyte imbalances, polydipsia, polyuria; alacrima, xerostomia, severe enamel wear.

References

Hadj-Rabia S, Brideau G, Al-Sarraj Y et al. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. Genet Med 2018, 20:190-201.

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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