Conditions / Syndrome
nonphotosensitive trichothiodystrophy 7
info · Syndrome
A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in h
A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.
Signs and symptoms
- Tiger tail banding
- Ichthyosis
- Brittle hair
- Congenital nonbullous ichthyosiform erythroderma
- Follicular hyperkeratosis
- Cutaneous photosensitivity
Also known as: TTD7