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PIGL-sEDD-CHIME

Previously: Colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation and ear anomalies (CHIME) syndrome

sEDD Gene: PIGL AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

PIGL-sEDD-CHIME: sharply marginated and figurate erythematous plaques on the posterior aspects of the lower legs in an adolescent boy.

Key Clinical Clues

Migratory plaques with peripheral scale.

Additional Cutaneous Features

Earlier: Migratory scaly erythematous dermatosis. Later: Thickened leathery skin. PPK; may have sparse hair, in some, skin changes are only manifestation.

Additional Extracutaneous Features

Colobomas, congenital heart defects, developmental delay, ear anomalies; brachycephaly, prominent forehead, short philtrum, hypertelorism, webbed neck; conductive hearing loss; widely spaced teeth, bifid incisor; occasional renal and neurological abnormalities.

References

Ng BG, Hackmann K, Jones MA et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 2012; 90:685-8. || Zunich J, Esterly NB, Kaye Cl. Autosomal recessive transmission of neuroectodermal syndrome. Arch Dermatol 1988; 124:1188-9.

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