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Syndrome with woolly hair

MedGen UID:
87503
Concept ID:
C0345427
Congenital Abnormality
Synonyms: Frizzy hair syndrome; Woolly hair syndrome; Woolly hair, congenital
SNOMED CT: Congenital wooly hair (254231002)
 
Orphanet: ORPHA434809

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndrome with woolly hair

Professional guidelines

PubMed

Tsatsopoulou AA, Protonotarios NI, McKenna WJ
Heart 2006 Dec;92(12):1720-3. Epub 2006 May 12 doi: 10.1136/hrt.2005.081679. PMID: 16698823Free PMC Article

Recent clinical studies

Etiology

Pavone P, Falsaperla R, Barbagallo M, Polizzi A, Praticò AD, Ruggieri M
Ital J Pediatr 2017 Nov 2;43(1):99. doi: 10.1186/s13052-017-0417-1. PMID: 29096685Free PMC Article
Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Brooke MA, Nitoiu D, Kelsell DP
J Pathol 2012 Jan;226(2):158-71. Epub 2011 Nov 14 doi: 10.1002/path.3027. PMID: 21989576
Sawczenko A, Sandhu BK
Indian J Pediatr 1999;66(1 Suppl):S46-51. PMID: 11132469

Diagnosis

Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet-Llobet L, Ivars M, Yubero D, Sarig O, Malki L, Peled A, Sprecher E, Baselga E
Pediatr Dermatol 2023 Nov-Dec;40(6):1094-1096. Epub 2023 Mar 27 doi: 10.1111/pde.15309. PMID: 36973173
Sevinç SH, Işıkay S
Turk J Pediatr 2022;64(6):1086-1105. doi: 10.24953/turkjped.2022.221. PMID: 36583891
Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920
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
Adhisivam B, Mahadevan S
Indian J Pediatr 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834. PMID: 16816500

Therapy

Vakkilainen S, Puhakka L, Klemetti P, Heiskanen K, Seppänen M, Muona M, Posseme C, Duffy D, Väisänen T, Elomaa O, Palomäki M, Saxén H, Ranki A, Hannula-Jouppi K
Acta Derm Venereol 2019 Jul 1;99(9):789-796. doi: 10.2340/00015555-3203. PMID: 31037311
Erolu E, Akalın F, Saylan Çevik B, Yücelten D
Pediatr Int 2018 Oct;60(10):987-989. doi: 10.1111/ped.13683. PMID: 30345701
Paller AS, Czarnowicki T, Renert-Yuval Y, Holland K, Huynh T, Sadlier M, McAleer MA, Tran G, Geddes GC, Irvine AD, Guttman-Yassky E
J Am Acad Dermatol 2018 Mar;78(3):498-505.e2. Epub 2017 Oct 21 doi: 10.1016/j.jaad.2017.10.026. PMID: 29066275
Hiejima E, Yasumi T, Nakase H, Matsuura M, Honzawa Y, Higuchi H, Okafuji I, Yorifuji T, Tanaka T, Izawa K, Kawai T, Nishikomori R, Heike T
Medicine (Baltimore) 2017 Nov;96(46):e8601. doi: 10.1097/MD.0000000000008601. PMID: 29145277Free PMC Article

Prognosis

Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS
Saudi J Gastroenterol 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. PMID: 34414925Free PMC Article
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
Adhisivam B, Mahadevan S
Indian J Pediatr 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834. PMID: 16816500
Protonotarios N, Tsatsopoulou A
Orphanet J Rare Dis 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4. PMID: 16722579Free PMC Article
Sawczenko A, Sandhu BK
Indian J Pediatr 1999;66(1 Suppl):S46-51. PMID: 11132469

Clinical prediction guides

Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC
Exp Dermatol 2022 Jun;31(6):970-979. Epub 2022 Apr 1 doi: 10.1111/exd.14571. PMID: 35325485Free PMC Article
Liang J, Guo Y, Lu Z, Yu H, Wu L, Yao Z
J Dermatol 2022 Jan;49(1):161-164. Epub 2021 Oct 2 doi: 10.1111/1346-8138.16177. PMID: 34601768
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A
Dermatol Clin 2018 Oct;36(4):421-430. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.009. PMID: 30201151
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
Carvajal-Huerta L
J Am Acad Dermatol 1998 Sep;39(3):418-21. doi: 10.1016/s0190-9622(98)70317-2. PMID: 9738775

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