Trichothiodystrophy

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Description from OMIM

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of Trichothiodystrophy Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); and TTD6 (616943), caused by mutation in the GTF2E2 gene (189964).



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Brittle hair integumentary 96 % 18603627 2011-11-29
Developmental delay nervous 86 % 18603627 2011-11-29
Short stature multi 73 % 18603627 2011-11-29
Ichthyosis integumentary 65 % 18603627 2011-11-29
Microcephaly nervous 50 % 18603627 2011-11-29
Sun sensitivity integumentary 42 % 18603627 2011-11-29
Recurrent infections lymphatic 36 % 18603627 2011-11-29
Cataract nervous 29 % 18603627 2011-11-29
Ataxia nervous 26 % 18603627 2011-11-29
Hearing loss nervous 20 % 18603627 2011-11-29
Demyelination nervous 14 % 18603627 2012-01-10
Nystagmus nervous 14 % 18603627 2011-11-29
Hyperactive reflexes nervous 13 % 18603627 2011-11-29
Hypogonadism nervous 12 % 18603627 2011-11-29
Anemia circulatory 12 % 18603627 2011-11-29
Strabismus nervous 10 % 18603627 2011-11-29
Tremor nervous 7 % 18603627 2011-11-29
Seizures nervous 6 % 18603627 2011-11-29
Dysarthria nervous 4 % 18603627 2011-11-29
Cerebellar atrophy nervous 4 % 18603627 2011-11-29
Cerebral atrophy nervous 4 % 18603627 2011-11-29



List of references:


Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
S Faghri, D Tamura, K H Kraemer, J J Digiovanna,

Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%) and defective DNA repair (37%). There was high mortality, with 19 deaths under the age of 10 years (13 infection related), which is 20-fold higher compared to the US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections and a high mortality at a young age. Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development.

Journal of medical genetics - Oct 2008