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Genetic hair anomaly

MedGen UID:
1842417
•Concept ID:
C5680582
•
Congenital Abnormality
Orphanet: ORPHA183450

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic hair anomaly

Professional guidelines

PubMed

Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):452-458. Epub 2022 Dec 21 doi: 10.1002/ajmg.c.32027. PMID: 36541891
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article

Recent clinical studies

Etiology

The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM
Genet Med 2022 Apr;24(4):851-861. Epub 2021 Nov 27 doi: 10.1016/j.gim.2021.11.020. PMID: 34930662Free PMC Article
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Psoriatic alopecia.
George SM, Taylor MR, Farrant PB
Clin Exp Dermatol 2015 Oct;40(7):717-21. Epub 2015 Jul 23 doi: 10.1111/ced.12715. PMID: 26202646
Procreative beneficence: why we should select the best children.
Savulescu J
Bioethics 2001 Oct;15(5-6):413-26. doi: 10.1111/1467-8519.00251. PMID: 12058767

Diagnosis

Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM
Genet Med 2022 Apr;24(4):851-861. Epub 2021 Nov 27 doi: 10.1016/j.gim.2021.11.020. PMID: 34930662Free PMC Article
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. PMID: 21396583Free PMC Article
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N
Hum Mutat 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. PMID: 20127975
Procreative beneficence: why we should select the best children.
Savulescu J
Bioethics 2001 Oct;15(5-6):413-26. doi: 10.1111/1467-8519.00251. PMID: 12058767

Therapy

Combination Approaches for Combatting Hair Loss.
Rose PT
Dermatol Clin 2021 Jul;39(3):479-485. Epub 2021 May 15 doi: 10.1016/j.det.2021.04.004. PMID: 34053599
Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Psoriatic alopecia.
George SM, Taylor MR, Farrant PB
Clin Exp Dermatol 2015 Oct;40(7):717-21. Epub 2015 Jul 23 doi: 10.1111/ced.12715. PMID: 26202646
Nutrition and hair: deficiencies and supplements.
Finner AM
Dermatol Clin 2013 Jan;31(1):167-72. Epub 2012 Oct 18 doi: 10.1016/j.det.2012.08.015. PMID: 23159185
The etiology of osteosarcoma.
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384

Prognosis

PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB
Ophthalmic Genet 2023 Dec;44(6):530-538. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2254830. PMID: 37732399Free PMC Article
The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.
Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):481-7. Epub 2016 Jun 13 doi: 10.1111/pde.12902. PMID: 27293153
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Clinical prediction guides

The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM
Genet Med 2022 Apr;24(4):851-861. Epub 2021 Nov 27 doi: 10.1016/j.gim.2021.11.020. PMID: 34930662Free PMC Article
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Recent systematic reviews

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
Ellison E, Grampp SJ, Ellison S, Seeley A, Seeley M
J Am Acad Orthop Surg Glob Res Rev 2024 Aug 1;8(8) Epub 2024 Aug 19 doi: 10.5435/JAAOSGlobal-D-24-00010. PMID: 39162698Free PMC Article
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB
Brain 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. PMID: 38735647Free PMC Article
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
Polivka L, Bodemer C, Hadj-Rabia S
J Med Genet 2016 May;53(5):289-95. Epub 2015 Sep 23 doi: 10.1136/jmedgenet-2015-103403. PMID: 26399581
Scalp hair characteristics in the newborn infant.
Furdon SA, Clark DA
Adv Neonatal Care 2003 Dec;3(6):286-96. doi: 10.1016/j.adnc.2003.09.005. PMID: 14695500

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