| Trichothiodystrophy |
| Synonyms |
Amish brittle hair syndrome, BIDS syndrome, Brittle hair-intellectual impairment-decreased fertility-short stature syndrome[1] |
|
| This condition is inherited in an autosomal recessive manner[1] |
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" or 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.[2]
Contents
- 1 Presentation
- 2 Cause
- 2.1 Photosensitive forms
- 2.2 DNA repair
- 3 Diagnosis
- 4 Treatment
- 5 See also
- 6 References
- 7 External links
Presentation
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,[3] is an autosomal recessive[4] inherited disease. It is nonphotosensitive. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.[5]:501 There is a photosensitive syndrome, PBIDS.[6]
BIDS is associated with the gene MPLKIP (TTDN1).[7]IBIDS syndrome, following the acronym from ichthyosis, brittle hair and nails, intellectual impairment and short stature, is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971.[8] (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.[5]:485[9][10][11] It is an autosomal recessive[12] congenital disease.[5]:501[13] In some cases, it can be diagnosed prenatally.[14] IBIDS syndrome is nonphotosensitive.
Cause
The photosensitive form is referred to as PIBIDS, and is associated with ERCC2[9] and ERCC3.[15]
Photosensitive forms
All photosensitive TTD syndromes have defects in the nucleotide excision repair (NER) pathway, which is a vital DNA repair system that removes many kinds of DNA lesions. This defect is not present in the nonphotosensitive TTD's.[16] These type of defects can result in other rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome.[17]
DNA repair
Currently, mutations in four genes are recognized as causing the TTD phenotype, namely TTDN1, XPB, XPD and TTDA.[18] Individuals with defects in XPB, XPD and TTDA are photosensitive, whereas those with a defect in TTDN1 are not. The three genes, XPB, XPD and TTDA, encode protein components of the multi-subunit transcription/repair factor IIH (TFIIH). This complex factor is an important decision maker in NER that opens the DNA double helix after damage is initially recognized. NER is a multi-step pathway that removes a variety of different DNA damages that alter normal base pairing, including both UV-induced damages and bulky chemical adducts. Features of premature aging often occur in individuals with mutational defects in genes specifying protein components of the NER pathway, including those with TTD[19] (see DNA damage theory of aging).
Diagnosis
|
This section is empty. You can help by adding to it. (February 2018)
|
Treatment
|
This section is empty. You can help by adding to it. (February 2018)
|
See also
- Skin lesion
- List of cutaneous conditions
References
- ^ a b Reference, Genetics Home. "Trichothiodystrophy". Genetics Home Reference. Retrieved 19 February 2018.
- ^ Lambert WC, Gagna CE and Lambert MW. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome.PMID 20687499
- ^ 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.
- ^ a b c 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.
- ^ a b Online Mendelian Inheritance in Man (OMIM) 601675
- ^ 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.
- ^ Online Mendelian Inheritance in Man (OMIM) 616390
- ^ 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.
- ^ Theil AF, Hoeijmakers JH, Vermeulen W (2014). "TTDA: big impact of a small protein". Exp. Cell Res. 329 (1): 61–8. doi:10.1016/j.yexcr.2014.07.008. PMID 25016283.
- ^ Edifizi D, Schumacher B (2015). "Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms". Biomolecules. 5 (3): 1855–69. doi:10.3390/biom5031855. PMC 4598778 . PMID 26287260.
External links
| Classification |
V · T · D
- ICD-10: L67.8
- OMIM: 234050 300953 601675 616390 616395 616943
|
| External resources |
|
- NIH document on Tay syndrome
|
Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)
|
| Nail disease |
- Anonychia
- Leukonychia
- Pachyonychia congenita/Onychauxis
- Koilonychia
|
| Hair disease |
- hypotrichosis/abnormalities: keratin disease
- IBIDS syndrome
- Sabinas brittle hair syndrome
- Pili annulati
- Pili torti
- Uncombable hair syndrome
- Björnstad syndrome
- Giant axonal neuropathy with curly hair
- hypertrichosis: Zimmermann–Laband syndrome
|
|
Metabolic disease: DNA replication and DNA repair-deficiency disorder
|
| DNA replication |
- Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4
- Termination/telomerase: DKC1
|
| DNA repair |
| Nucleotide excision repair |
- Cockayne syndrome/DeSanctis–Cacchione syndrome
- Thymine dimer
- IBIDS syndrome
|
| MSI/DNA mismatch repair |
- Hereditary nonpolyposis colorectal cancer
- Muir–Torre syndrome
- Mismatch repair cancer syndrome
|
| MRN complex |
- Ataxia telangiectasia
- Nijmegen breakage syndrome
|
| Other |
- RecQ helicase
- Bloom syndrome
- Werner syndrome
- Rothmund–Thomson syndrome/Rapadilino syndrome
- Fanconi anemia
- Li-Fraumeni syndrome
- Severe combined immunodeficiency
|
|
|
Progeroid syndromes
|
| DNA repair |
| RecQ-associated |
- Werner syndrome
- Bloom syndrome
- Rothmund–Thomson syndrome
|
| NER protein-associated |
- Cockayne syndrome
- Xeroderma pigmentosum
- Trichothiodystrophy
|
|
| Lamin A/C |
- Hutchinson–Gilford progeria syndrome
- Restrictive dermopathy
|
| Other/Related disorders |
- Li–Fraumeni syndrome
- Rapadilino syndrome
- Baller-Gerold syndrome
- DeSanctis–Cacchione syndrome
- Nijmegen breakage syndrome
- Fanconi anemia
- Dyskeratosis congenita
- Ataxia telangiectasia
- De Barsy syndrome
- PIBI(D)S syndrome
- BIDS syndrome
- Marfanoid–progeroid–lipodystrophy syndrome
|
|
See also: DNA replication and repair-deficiency disorder
|