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Trichoschisis

MedGen UID:
698036
Concept ID:
C1274711
Disease or Syndrome
SNOMED CT: Trichoschisis (403336005)
 
HPO: HP:0034354

Definition

Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrichoschisis

Conditions with this feature

Trichothiodystrophy 1, photosensitive
MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. 

Recent clinical studies

Etiology

Strang-Karlsson S, von Willebrand M, Avela K, Wallgren-Pettersson C
Am J Med Genet A 2021 Jun;185(6):1875-1882. Epub 2021 Mar 17 doi: 10.1002/ajmg.a.62168. PMID: 33729667
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A
Am J Med Genet A 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. PMID: 19681155
López-García DR, Salas-Alanis JC, Christiano AM, Ocampo-Candiani J, Gómez-Flores M
Clin Exp Dermatol 2009 Jul;34(5):e94-8. Epub 2009 May 5 doi: 10.1111/j.1365-2230.2008.03197.x. PMID: 19438561
Fortina AB, Alaibac M, Piaserico S, Peserico A
J Eur Acad Dermatol Venereol 2001 Jan;15(1):65-9. doi: 10.1046/j.1468-3083.2001.00212.x. PMID: 11451329

Diagnosis

Strang-Karlsson S, von Willebrand M, Avela K, Wallgren-Pettersson C
Am J Med Genet A 2021 Jun;185(6):1875-1882. Epub 2021 Mar 17 doi: 10.1002/ajmg.a.62168. PMID: 33729667
López-García DR, Salas-Alanis JC, Christiano AM, Ocampo-Candiani J, Gómez-Flores M
Clin Exp Dermatol 2009 Jul;34(5):e94-8. Epub 2009 May 5 doi: 10.1111/j.1365-2230.2008.03197.x. PMID: 19438561
Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ
J Am Acad Dermatol 2005 Feb;52(2):224-32. doi: 10.1016/j.jaad.2004.09.013. PMID: 15692466
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
Itin PH, Pittelkow MR
J Am Acad Dermatol 1990 May;22(5 Pt 1):705-17. doi: 10.1016/0190-9622(90)70096-z. PMID: 2189905

Clinical prediction guides

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
Schepis C, Elia M, Siragusa M, Barbareschi M
Pediatr Dermatol 1997 Mar-Apr;14(2):125-8. doi: 10.1111/j.1525-1470.1997.tb00219.x. PMID: 9144699
Meyvisch K, Song M, Dourov N
Scanning Microsc 1992 Jun;6(2):537-41. PMID: 1462138

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