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ERCC3/XPB-sEDD-TTD

Previously: Trichothiodystrophy 2, photosensitive

sEDD Gene: ERCC3/XPB AR

Onset: Birth

Pathway: Transcription

Category Paper: sEDD Paper

sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.

Key Clinical Clues

Photosensitivity; Tiger tail banding with polarized light.

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

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

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