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AP1S1-sEDD

Previously: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma (MEDNIK) syndrome

sEDD Gene: AP1S1 AR

Onset: Birth

Pathway: Membrane sorting/vesicular trafficking

Category Paper: sEDD Paper

Key Clinical Clues

Erythroderma with skin thickening; fragile hair.

Additional Cutaneous Features

Variable severity from exfoliative erythroderma to fine scaling; ectropion; mild PPK; hypotrichosis, hypohidrosis.

Additional Extracutaneous Features

Mental retardation/global developmental delay, enteropathy, sensorineural deafness, neuropathy; failure to thrive, poorly calcified teeth, duodenal structural abnormalities; mild-to-moderate episodic or persistent thrombocytopenia; hepatomegaly, liver fibrosis, cirrhosis.

References

Montpetit A, Côté S, Brustein E et al. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLOS Genet 2008; 4:e1000296.

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