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Abnormal hairshaft morphology

MedGen UID:
1815044
•Concept ID:
C5706138
•
Anatomical Abnormality
Synonym: Abnormal hair laboratory examination
 
HPO: HP:0003328

Definition

An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin. [from HPO]

Recent clinical studies

Etiology

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E
N Engl J Med 2019 Feb 28;380(9):833-841. Epub 2019 Feb 13 doi: 10.1056/NEJMoa1816614. PMID: 30763140
Analysis of trichoscopic signs observed in 24 patients presenting tinea capitis: Hypotheses based on physiopathology and proposed new classification.
Bourezane Y, Bourezane Y
Ann Dermatol Venereol 2017 Aug-Sep;144(8-9):490-496. Epub 2017 May 18 doi: 10.1016/j.annder.2016.12.012. PMID: 28528735
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A
J Invest Dermatol 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. PMID: 11841556
Neurotrichosis: hair-shaft abnormalities associated with neurological diseases.
Coulter DL, Beals TF, Allen RJ
Dev Med Child Neurol 1982 Oct;24(5):634-44. doi: 10.1111/j.1469-8749.1982.tb13674.x. PMID: 7141120

Diagnosis

Analysis of trichoscopic signs observed in 24 patients presenting tinea capitis: Hypotheses based on physiopathology and proposed new classification.
Bourezane Y, Bourezane Y
Ann Dermatol Venereol 2017 Aug-Sep;144(8-9):490-496. Epub 2017 May 18 doi: 10.1016/j.annder.2016.12.012. PMID: 28528735
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency.
Lünnemann L, Vogt A, Blume-Peytavi U, Garcia Bartels N
JAMA Dermatol 2013 Mar;149(3):357-63. doi: 10.1001/jamadermatol.2013.1490b. PMID: 23552716
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M
J Invest Dermatol 2006 Jun;126(6):1281-5. doi: 10.1038/sj.jid.5700113. PMID: 16439973
A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.
Chao SC, Tsai YM, Lee JY
J Formos Med Assoc 2003 Jun;102(6):418-23. PMID: 12923596
Neurotrichosis: hair-shaft abnormalities associated with neurological diseases.
Coulter DL, Beals TF, Allen RJ
Dev Med Child Neurol 1982 Oct;24(5):634-44. doi: 10.1111/j.1469-8749.1982.tb13674.x. PMID: 7141120

Therapy

Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency.
Lünnemann L, Vogt A, Blume-Peytavi U, Garcia Bartels N
JAMA Dermatol 2013 Mar;149(3):357-63. doi: 10.1001/jamadermatol.2013.1490b. PMID: 23552716

Prognosis

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E
N Engl J Med 2019 Feb 28;380(9):833-841. Epub 2019 Feb 13 doi: 10.1056/NEJMoa1816614. PMID: 30763140
Analysis of trichoscopic signs observed in 24 patients presenting tinea capitis: Hypotheses based on physiopathology and proposed new classification.
Bourezane Y, Bourezane Y
Ann Dermatol Venereol 2017 Aug-Sep;144(8-9):490-496. Epub 2017 May 18 doi: 10.1016/j.annder.2016.12.012. PMID: 28528735
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A
J Invest Dermatol 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. PMID: 11841556

Clinical prediction guides

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E
N Engl J Med 2019 Feb 28;380(9):833-841. Epub 2019 Feb 13 doi: 10.1056/NEJMoa1816614. PMID: 30763140
Analysis of trichoscopic signs observed in 24 patients presenting tinea capitis: Hypotheses based on physiopathology and proposed new classification.
Bourezane Y, Bourezane Y
Ann Dermatol Venereol 2017 Aug-Sep;144(8-9):490-496. Epub 2017 May 18 doi: 10.1016/j.annder.2016.12.012. PMID: 28528735
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M
J Invest Dermatol 2006 Jun;126(6):1281-5. doi: 10.1038/sj.jid.5700113. PMID: 16439973
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A
J Invest Dermatol 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. PMID: 11841556
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé JL, Paradisi M, Kelsell DP, Ansai Si, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, Prost Yd, Cardon LR, Hovnanian A
Am J Hum Genet 2000 Mar;66(3):914-21. doi: 10.1086/302824. PMID: 10712206Free PMC Article

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