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Isolated genetic hair shaft abnormality

MedGen UID:
1842997
•Concept ID:
C5681479
•
Congenital Abnormality
Synonym: Isolated hair shaft abnormality
 
Orphanet: ORPHA79366

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated genetic hair shaft abnormality

Professional guidelines

PubMed

Hair shaft abnormalities--clues to diagnosis and treatment.
Itin PH, Fistarol SK
Dermatology 2005;211(1):63-71. doi: 10.1159/000085582. PMID: 15983439
Optimal management of hair loss (alopecia) in children.
Harrison S, Sinclair R
Am J Clin Dermatol 2003;4(11):757-70. doi: 10.2165/00128071-200304110-00004. PMID: 14572298

Recent clinical studies

Etiology

Alopecia in genetic diseases.
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562

Diagnosis

Athena: Speciality Certificate Examination case for Paediatrics and Genetics: a case of brittle hair.
Asfour L, Sinclair R
Clin Exp Dermatol 2022 Jul;47(7):1388-1390. Epub 2021 Sep 29 doi: 10.1111/ced.14861. PMID: 34309895
Seizure as the presenting manifestation in Griscelli syndrome type 2.
Panigrahi I, Suthar R, Rawat A, Behera B
Pediatr Neurol 2015 May;52(5):535-8. Epub 2015 Jan 26 doi: 10.1016/j.pediatrneurol.2015.01.010. PMID: 25801174
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
Dishop MK, Bree AF, Hicks MJ
Am J Med Genet A 2009 Sep;149A(9):1935-41. doi: 10.1002/ajmg.a.32826. PMID: 19697429
Hair shaft abnormalities--clues to diagnosis and treatment.
Itin PH, Fistarol SK
Dermatology 2005;211(1):63-71. doi: 10.1159/000085582. PMID: 15983439
Optimal management of hair loss (alopecia) in children.
Harrison S, Sinclair R
Am J Clin Dermatol 2003;4(11):757-70. doi: 10.2165/00128071-200304110-00004. PMID: 14572298

Clinical prediction guides

Optimal management of hair loss (alopecia) in children.
Harrison S, Sinclair R
Am J Clin Dermatol 2003;4(11):757-70. doi: 10.2165/00128071-200304110-00004. PMID: 14572298
Trichodysplasia and amelogenesis imperfecta.
Angelos G, Jorgenson RJ
Oral Surg Oral Med Oral Pathol 1993 Jan;75(1):86-9. doi: 10.1016/0030-4220(93)90411-v. PMID: 8419879

Supplemental Content

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    Clinical resources

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    Reviews

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