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Reduced hair sulfur content

MedGen UID:
860481
•Concept ID:
C4012044
•
Finding
Synonym: Reduced sulfur content of hair
 
HPO: HP:0034425

Definition

Abnormally low amount of sulfur in hair. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced hair sulfur content

Conditions with this feature

Trichothiodystrophy 5, nonphotosensitive
MedGen UID:
899675
•Concept ID:
C4225420
•
Disease or Syndrome
Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).
See: Condition Record
Trichothiodystrophy 5, nonphotosensitive

Recent clinical studies

Etiology

The combinations of sulfur and molybdenum fertilizations improved antioxidant capacity of grazing Guizhou semi-fine wool sheep under copper and cadmium stress.
Li Y, Wang Y, Shen X, Liu F
Ecotoxicol Environ Saf 2021 Oct 1;222:112520. Epub 2021 Jul 17 doi: 10.1016/j.ecoenv.2021.112520. PMID: 34280842
Mercury levels in hair samples of dentists: A comparative study in Sri Lanka.
Wijesekara LA, Usoof R, Gamage SST, Jayasinghe R, Gamage N, De Silva D, Ekanayake S
J Investig Clin Dent 2018 May;9(2):e12302. Epub 2017 Oct 22 doi: 10.1111/jicd.12302. PMID: 29057586
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC, Gagna CE, Lambert MW
Adv Exp Med Biol 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. PMID: 20687499
Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease.
Cheng S, Stone J, de Berker D
Br J Dermatol 2009 Dec;161(6):1379-83. Epub 2009 Sep 15 doi: 10.1111/j.1365-2133.2009.09403.x. PMID: 19754869
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A
Carcinogenesis 1993 Jun;14(6):1101-5. doi: 10.1093/carcin/14.6.1101. PMID: 8508495

Diagnosis

Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC, Gagna CE, Lambert MW
Adv Exp Med Biol 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. PMID: 20687499
Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease.
Cheng S, Stone J, de Berker D
Br J Dermatol 2009 Dec;161(6):1379-83. Epub 2009 Sep 15 doi: 10.1111/j.1365-2133.2009.09403.x. PMID: 19754869
Diagnosis of trichothiodystrophy in 2 siblings.
Bracun R, Hemmer W, Wolf-Abdolvahab S, Focke M, Botzi C, Killian W, Götz M, Jarisch R
Dermatology 1997;194(1):74-6. doi: 10.1159/000246064. PMID: 9031799
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA
Am J Hum Genet 1996 Feb;58(2):263-70. PMID: 8571952Free PMC Article
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A
Carcinogenesis 1993 Jun;14(6):1101-5. doi: 10.1093/carcin/14.6.1101. PMID: 8508495

Therapy

The combinations of sulfur and molybdenum fertilizations improved antioxidant capacity of grazing Guizhou semi-fine wool sheep under copper and cadmium stress.
Li Y, Wang Y, Shen X, Liu F
Ecotoxicol Environ Saf 2021 Oct 1;222:112520. Epub 2021 Jul 17 doi: 10.1016/j.ecoenv.2021.112520. PMID: 34280842
Some properties of keratin biomaterials: kerateines.
Hill P, Brantley H, Van Dyke M
Biomaterials 2010 Feb;31(4):585-93. Epub 2009 Oct 12 doi: 10.1016/j.biomaterials.2009.09.076. PMID: 19822360
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA
Am J Hum Genet 1996 Feb;58(2):263-70. PMID: 8571952Free PMC Article

Clinical prediction guides

Structural and molecular hair abnormalities in trichothiodystrophy.
Liang C, Morris A, Schlücker S, Imoto K, Price VH, Menefee E, Wincovitch SM, Levin IW, Tamura D, Strehle KR, Kraemer KH, DiGiovanna JJ
J Invest Dermatol 2006 Oct;126(10):2210-6. Epub 2006 May 25 doi: 10.1038/sj.jid.5700384. PMID: 16728971
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A
Carcinogenesis 1993 Jun;14(6):1101-5. doi: 10.1093/carcin/14.6.1101. PMID: 8508495
Trichothiodystrophy.
Milligan A, Fletcher A, Porter DI, Hutchinson PE
Clin Exp Dermatol 1991 Jul;16(4):264-7. doi: 10.1111/j.1365-2230.1991.tb00371.x. PMID: 1794166

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