Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho-hair; thio-sulphur and dystrophy-wasting away, literally bad nourishment. TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm.TTD may be subclassified into four syndromes: Approximately half of all patients with Trichothiodystrophy have photosensitivity which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.[1]
TTD Acronyms
Features of TTD can include: Photosensitivity, Icthyosis, Brittle hair and nails, Intellectual impairment, Decreased fertility and Short stature. The acronyms PIBIDS, IBIDS, BIDS and PBIDS give the initials of the words involved. BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome,[2] is an autosomal recessive[3] inherited disease . It is nonphotosensitive. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.[4]:501 There is a photosensitive syndrome, PBIDS.[5]
BIDS is associated with the gene MPLKIP (TTDN1).[6]
Trichothiodystrophy |
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Classification and external resources |
OMIM |
601675 |
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IBIDS syndrome, following the acronym, Ichthyosis, Brittle hair and nails, Intellectual impairment and Short stature, which is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Dr Tay in 1971.[7] (Dr Chong Hai Tay was the Singaporean doctor who was the first doctor in South East Asia to have a disease named after him). Tay syndrome should not be confused with the Tay-Sachs disease.[citation needed]
[2][8][4]:485[9] It is an autosomal recessive[10] congenital disease.[11][4] In some cases, it can be diagnosed prenatally.[12] IBIDS syndrome is nonphotosensitive.
The photosensitive form is referred to as PIBIDS, and is associated with ERCC2 and ERCC3.[2]
Photosensitive forms
All photosensitive TTD syndromes have defects in their NER systems. NER stands for nucleotide excision repair which is a vital DNA repair system that removes many kinds of DNA lesions. This defect is not present in the nonphotosensitive TTD's.[13] NER defects can result in other rare autosomal recessive diseases like Xeroderma pigmentosum and Cockayne syndrome.[14]
See also
References
- ↑ Lambert WC, Gagna CE and Lambert MW. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome.PMID 20687499
- ↑ 2.0 2.1 2.2 Online 'Mendelian Inheritance in Man' (OMIM) 234050
- ↑ Baden, H. P.; Jackson, C. E.; Weiss, L.; Jimbow, K.; Lee, L.; Kubilus, J.; Gold, R. J. (Sep 1976). "The physicochemical properties of hair in the BIDS syndrome". American Journal of Human Genetics 28 (5): 514–521. PMC 1685097. PMID 984047.
- ↑ 4.0 4.1 4.2 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ Hashimo S, and Egly JM. Trichothiodystrophy view from the molecular basis of DNA repair transcription factor TF11H.www.oxfordjournals.org/content/18/R2/R224
- ↑ Nakabayashi K, Amann D, Ren Y, et al. (March 2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC 1196401. PMID 15645389.
- ↑ Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder". Arch Dermatol 104 (1): 4–13. doi:10.1001/archderm.104.1.4. PMID 5120162.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ↑ Hashimoto S, and Egly JM, www.oxfordjournals.org/content/18/R2/R224
- ↑ Stefanini M, B. E.; Botta, E.; Lanzafame, M.; Orioli, D. (January 2010). "Trichothiodystrophy: from basic mechanisms to clinical implications". DNA Repair 9 (1): 2–10. doi:10.1016/j.dnarep.2009.10.005. PMID 19931493.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 0-7216-2921-0.
- ↑ Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (Dec 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk". Prenat. Diagn. 27 (12): 1133–1137. doi:10.1002/pd.1849. PMID 17880036.
- ↑ Hashimoto S, and Egly JM http://www.oxfordjournals.org/content/18/R2/R224
- ↑ Peserico, A.; Battistella, P. A.; Bertoli, P. (1 January 1992). "MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S". Neuroradiology 34 (4): 316–317. doi:10.1007/BF00588190.
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See also: DNA replication, DNA repair
- B structural
- perx
- skel
- cili
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- nucl
- sclr
- DNA/RNA/protein synthesis
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- trfk
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See also: DNA replication and repair-deficiency disorder |
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