Trichothiodystrophy

Trichothiodystrophy

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 13341
ICD10 = ICD10|Q|84|1|q|80
ICD9 =
ICDO =
OMIM = 601675
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D054463

Trichothiodystrophy is a rare genetic condition caused by mutations in either of the ERCC2/XPD and ERCC3/XPB genes. The symptoms of the disease result from a loss of nucleotide excision repair (NER) mechanisms, resulting in high sensitivity to UV light. Patients suffer from brittle hair and nails, ichthyotic or dry and scaly skin as well as physical and mental retardation. Skin cancers have been reported in several cases, associated with Trichothiodystrophy, which is also known as Tay syndrome. [OMIM|601675|Trichothiodystrophy, photosensitive; TTDP]

In some cases, it can be diagnosed prenatally.cite journal |author=Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG |title=Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk |journal=Prenat. Diagn. |volume=27 |issue=12 |pages=1133–7 |year=2007 |month=Dec |pmid=17880036 |doi=10.1002/pd.1849 |url=http://dx.doi.org/10.1002/pd.1849]

References

External links

*
*OMIM3|601675 RareDiseases|5270|Trichothiodystrophy
*RareDiseases|5271|Trichothiodystrophy sun sensitivity
*OMIM3|275550 RareDiseases|10098|Trichorrhexis nodosa syndrome; Pollitt syndrome; Trichothiodystrophy-neurocutaneous syndrome
*OMIM3|211390 RareDiseases|313|Sabinas brittle hair syndrome is a form of nonphotosensitive trichothiodystrophy


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