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RNF113A-sEDD-TTD

Previously: Trichothiodystrophy 5, nonphotosensitive

sEDD Gene: RNF113A XLD

Onset: Birth

Pathway: Transcription

Category Paper: sEDD Paper

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

Key Clinical Clues

Non-photosensitive; Hair and neurological issues.

Additional Cutaneous Features

Often born with a collodion membrane; generalized scaling, typically mild; sparse hair showing tiger tail banding under polarized light.

Additional Extracutaneous Features

See TTD group: Failure to thrive, 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