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ABHD5-sEDD

Previously: Chanarin-Dorfman syndrome (CDS)

sEDD Gene: ABHD5 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

ABHD5-sEDD: skin thickening and greyish hyperpigmentation on the neck of a young girl.

Key Clinical Clues

Diffuse erythema and fine scaling; alopecia; ataxia, myopathy, hearing loss.

Additional Cutaneous Features

Birth: Collodion membrane or erythrodermic. Later: Erythroderma with fine white scaling, can be patterned well-circumscribed scaling plaques. PPK, hypohidrosis, mild ectropion, flexural and neck lichenification.

Additional Extracutaneous Features

Variable severity of muscle weakness (sometimes adult onset) with high muscle enzymes; variable abnormal hepatic function, steatohepatitis, hepatosplenomegaly; cataracts, strabismus; occasional neurosensory deafness. Lipid vacuoles in neutrophils (Jordan anomaly).

References

Çetinarslan T, Yazıcı H, Erdoğan KM et al. Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma. Pediatr Dermatol 2024; 41:1174-8. || Lefèvre C, Jobard F, Caux F et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001; 69:1002-12. || Kopp J, Has C, Hotz A et al. Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome. Genes 2021; 12:1164.

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