Trichothiodystrophy Syndromes

Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Also Known As:
IBIDS Syndrome; Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature; PIBIDS Syndrome; Photosensitive Trichothiodystrophy; Tay Syndrome; Trichothiodystrophy with Congenital Ichtyosis; Trichothiodystrophy, Nonphotosensitive 1; Nonphotosensitive 1 Trichothiodystrophies; Nonphotosensitive 1 Trichothiodystrophy; PIBIDS Syndromes; Photosensitive Trichothiodystrophies; Trichothiodystrophies, Nonphotosensitive 1; Trichothiodystrophies, Photosensitive; Trichothiodystrophy Syndrome; Trichothiodystrophy, Photosensitive
Networked: 17 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Trichothiodystrophy Syndromes
2. Ichthyosis (Xeroderma)
3. Skin Neoplasms (Skin Cancer)
4. Mental Retardation (Idiocy)
5. Legg-Perthes Disease (Perthes Disease)


1. Lakhani, Om J: 1 article (01/2015)
2. Lakhani, Som J: 1 article (01/2015)
3. Herman, Alysa R: 1 article (03/2008)
4. Aber, Cheryl G: 1 article (03/2008)
5. Jambhekar, S D: 1 article (03/2008)
6. Charles, Carlos A: 1 article (03/2008)
7. Connelly, Elizabeth Alvarez: 1 article (03/2008)
8. Schachner, Lawrence A: 1 article (03/2008)
9. Dhongade, A R: 1 article (03/2008)
10. Jiménez-Puya, R: 1 article (04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Trichothiodystrophy Syndromes:
1. TrichothiodystrophyIBA
2. DNA (Deoxyribonucleic Acid)IBA
3. Collodion (Nitrocellulose)IBA
4. Acrodermatitis enteropathicaIBA
5. Axial osteosclerosisIBA
6. Duane anomalyIBA
7. MonogenIBA