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:

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)

Experts

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 04/01/2007 - "[Trichothiodystrophy: PIBIDS syndrome]." 01/01/1994 - "Here we describe clinical and laboratory findings in two patients with trichothiodystrophy and defective DNA repair alongside findings in three other cases who have different trichothiodystrophy syndromes without defective DNA repair. " 01/01/1994 - "The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual impairment. " 03/01/2008 - "Tay syndrome or IBIDS is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and abnormal brittle hair (trichothiodystrophy). " 06/01/2004 - "PIBIDS syndrome (trichothiodystrophy type F) and skin cancer: an exceptional association."
2.	DNA (Deoxyribonucleic Acid)IBA 11/01/1992 - "First-trimester prenatal exclusion of PIBIDS syndrome with normal DNA excision repair on chorionic villus cells."
3.	Collodion (Nitrocellulose)IBA 04/01/1991 - "Collodion baby, sign of Tay syndrome."
4.	Acrodermatitis enteropathicaIBA 12/01/1990 - "Polarization microscopy revealed a striking resemblance of the hair anomalies found in trichothiodystrophy syndromes and those in acrodermatitis enteropathica. "
5.	Axial osteosclerosisIBA 12/01/1989 - "We describe a 9-year and 10-month-old white boy whose clinical features resemble the IBIDS syndrome (ichthyosis, brittle hair, cataracts, and short stature), but who also has marked axial osteosclerosis and peripheral osteopenia. "
6.	Duane anomalyIBA 03/01/2008 - "The exact prevalence of this condition is not known, but up to 1991, clinical data of 15 cases with IBIDS were published .We report a case of Tay syndrome with additional features of Duane's retraction syndrome and Perthes disease, which have not yet been reported in literature."
7.	MonogenIBA 07/01/1999 - "Tay-syndrome is a rare monogen-inherited ektodermal dysplastic syndrome with ichtyosis, fragility of the hair and physical and mental retardation. "