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STIM1-sEDD

Previously: Stormorken syndrome

sEDD Gene: STIM1 AD

Onset: Usually childhood or later

Pathway: Channels

Category Paper: sEDD Paper

Key Clinical Clues

Fine generalized scaling beginning during childhood.

Additional Cutaneous Features

Ichthyosis often not mentioned in reports.

Additional Extracutaneous Features

Short stature, miosis, deep-set eyes, hypotelorism, prominent nose, epistaxis, splenic abnormalities, muscle contractile defect, myopathy, headache, bleeding tendency due to platelet dysfunction, thrombocytopenia, anaemia.

References

Misceo D, Holmgren A, Louch WE et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014; 35:556-64.

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