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MARS1-sEDD-TTD

Previously: Trichothiodystrophy 9, nonphotosensitive

sEDD Gene: MARS1 AR

Onset: Birth

Pathway: Replication

Category Paper: sEDD Paper

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

Key Clinical Clues

Non-photosensitive; Tiger tail banding with polarized light.

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

Botta E, Theil AF, Raams A et al. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Hum Mol Genet 2021; 30:1711-20.

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