Back to Database

ERCC2/XPD-sEDD-TTD

Previously: Trichothiodystrophy 1, photosensitive

sEDD Gene: ERCC2/XPD AR

Onset: Birth

Pathway: DNA repair

Category Paper: sEDD Paper

sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.

Key Clinical Clues

Photosensitivity; fine scaling; receding chin; sparse hair, tiger tail banding.

Additional Cutaneous Features

Often born with a collodion membrane; may have tufted hair. Later: Generalized, typically mild, fine-to-polygonal scaling. Thin brittle hair with trichoschisis and tiger tail banding (polarized light); occasional nail dystrophy, PPK, prominent cheilitis; NMSC may develop.

Additional Extracutaneous Features

Failure to thrive, low birthweight, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections. (TTD group features).

References

Morice-Picard F, Cario-André M, Rezvani H et al. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 2009 149A:2020-30.

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