trichothiodystrophy (TTD)
Jump to navigation
Jump to search
Pathology
- cells from individuals with photosensitive TTD have defects in nucleotide excision repair indistinguishable from cells obtained from patients with Xeroderma Pigmentosum (XP)
- tiger tail banding of hair strands[2]*
* image[2]
Genetics
- autosomal recessive
- associated with defects in GTF2H5 gene
- associated with defects in TTDN1 gene (non-photosensitive)
- associated with defects in ERCC2, ERCC3 (photosensitive)
Clinical manifestations
- sulfur-deficient brittle hair
- small size, impaired sexual development
- mental retardation
- unusual facial features
- photosensitivity (frequent)
- ichthyosis (fish-like scales on skin)
- neonates with trichothiodystrophy & ichthyosis are usually born with a collodion membrane
- severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe
- newborn withe frizzy hair, low set ears[2]*
* image[2]
Complications
- individuals with TTD do not appear to have an increased risk of malignant neoplasms
More general terms
Additional terms
References
- ↑ Lehmann AR. Nucleotide excision repair and the link with transcription. Trends Biochem Sci. 1995 Oct;20(10):402-5. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8533152
- ↑ 2.0 2.1 2.2 2.3 2.4 Garon L, Kokta V, Coulombe J. Images in Dermatology Trichothiodystrophy JAMA Dermatol. 2023;159(8):877 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37342013 https://jamanetwork.com/journals/jamadermatology/fullarticle/2806332