裂毛症、硫黄欠乏性毛髪発育異常症。trichorrhexis、TTD
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/10 09:24:50」(JST)
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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]
Contents
- 1 TTD Acronyms
- 2 Photosensitive forms
- 3 See also
- 4 References
- 5 External links
TTD Acronyms
| BIDS syndrome |
| Classification and external resources |
| OMIM |
234050 |
| DiseasesDB |
32649 |
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 |
| Classification and external resources |
| OMIM |
601675 |
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. [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
- Skin lesion
- List of cutaneous conditions
References
- ^ Lambert WC, Gagna CE and Lambert MW. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome.PMID 20687499
- ^ a b c 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. edit
- ^ 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.
- ^ 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. edit
- ^ 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.
External links
- NIH document on Tay syndrome
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Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)
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| Nail disease |
- Anonychia
- Leukonychia
- Pachyonychia congenita/Onychauxis
- Koilonychia
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| 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
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noco/cong/tumr, sysi/epon
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Metabolic disease: DNA replication and DNA repair-deficiency disorder
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| DNA replication |
- Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4
- Termination/telomerase: DKC1
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| DNA repair |
| Nucleotide excision repair |
- Cockayne syndrome/DeSanctis–Cacchione syndrome
- Thymine dimer
- IBIDS syndrome
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| MSI/DNA mismatch repair |
- Hereditary nonpolyposis colorectal cancer
- Muir–Torre syndrome
- Mismatch repair cancer syndrome
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| MRN complex |
- Ataxia telangiectasia
- Nijmegen breakage syndrome
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| Other |
- RecQ helicase
- Bloom syndrome
- Werner syndrome
- Rothmund–Thomson syndrome/Rapadilino syndrome
- Fanconi anemia
- Li-Fraumeni syndrome
- Severe combined immunodeficiency
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See also: DNA replication, DNA repair
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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Progeroid syndromes
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| DNA repair |
| RecQ-associated |
- Werner syndrome
- Bloom syndrome
- Rothmund–Thomson syndrome
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| NER protein-associated |
- Cockayne syndrome
- Xeroderma pigmentosum
- Trichothiodystrophy
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| Lamin A/C |
- Hutchinson–Gilford progeria syndrome
- Restrictive dermopathy
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| 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
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See also: DNA replication and repair-deficiency disorder
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UpToDate Contents
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English Journal
- Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia.
- Rakowska A1, Górska R2, Rudnicka L3, Zadurska M4.
- The Journal of pediatrics.J Pediatr.2015 Jul;167(1):193-5. doi: 10.1016/j.jpeds.2015.04.002. Epub 2015 Apr 30.
- Hair abnormalities in ectodermal dysplasia may be difficult to identify. Among 16 patients with ectodermal dysplasia trichoscopy (hair dermoscopy) revealed predominance of pilosebaceous units with 1 hair (69%), abnormalities of hair shaft pigmentation (gray hair with single dark hairs, 56%), pili to
- PMID 25935816
- DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders.
- Shabbir SH1.
- Journal of child neurology.J Child Neurol.2015 Jun 26. pii: 0883073815592221. [Epub ahead of print]
- Nucleotide excision repair disorders display a wide range of clinical syndromes and presentations, all associated at the molecular level by dysfunction of genes participating in the nucleotide excision repair pathway. Genotype-phenotype relationships are remarkably complex and not well understood. T
- PMID 26116382
- Defective Hfp-dependent transcriptional repression of dMYC is fundamental to tissue overgrowth in Drosophila XPB models.
- Lee JE1, Mitchell NC1, Zaytseva O1, Chahal A1, Mendis P1, Cartier-Michaud A2, Parsons LM1, Poortinga G3, Levens DL4, Hannan RD5, Quinn LM1.
- Nature communications.Nat Commun.2015 Jun 15;6:7404. doi: 10.1038/ncomms8404.
- Nucleotide excision DNA repair (NER) pathway mutations cause neurodegenerative and progeroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)), which are inexplicably associated with (XP) or without (CS/TTD) cancer. Moreover, cancer progression occurs in ce
- PMID 26074141
Japanese Journal
- A Japanese trichothiodystrophy patient with XPD mutations
- Usuda Touhei,Saijo Masafumi,Tanaka Kiyoji [他],SATO Nobuyuki,UCHIYAMA Makoto,KOBAYASHI Takehiro
- Journal of human genetics 56(1), 77-79, 2011-01-01
- NAID 10030657524
- A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
- DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Related Links
- ^Lambert WC, Gagna CE and Lambert MW. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome.PMID 20687499 ^ a b c Online 'Mendelian Inheritance in Man' (OMIM) 234050 ^ Baden, H. P.; Jackson, C. E.; Weiss, L ...
- Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is ...
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