Trichothiodystrophy

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Trichothiodystrophy Classification and external resources
ICD-10	Q84.1
OMIM	601675
DiseasesDB	13341
MeSH	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.^[1]

In some cases, it can be diagnosed prenatally.^[2]

[edit] References

[edit] External links

• DermAtlas -2105652602

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757) Congenital ichthyosis Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome Epidermolysis bullosa Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica Other skin disease Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum Nail disease Leukonychia - Pachyonychia congenita Malformations of breast Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia Hair disease Monilethrix - Sabinas brittle hair syndrome see also non-congenital (L, 680-709)