MPLKIP-sEDD-TTD

Previously: Trichothiodystrophy 4, nonphotosensitive

sEDD Gene: MPLKIP AR

Onset: Birth

Pathway: Replication

Category Paper: sEDD Paper

MPLKIP-sEDD-TTD: sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.

sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.

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

Theil AF, Pines A, Kalayci T et al. Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. EMBO Mol Med 2023; 15:e17973.

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