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Sparse or absent eyelashes

MedGen UID:
764345
Concept ID:
C3551431
Finding
Synonym: Eyelashes sparse or absent
 
HPO: HP:0200102

Conditions with this feature

Ectodermal dysplasia 8, hair/tooth/nail type
MedGen UID:
764338
Concept ID:
C3551424
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails.
Hypotrichosis 11
MedGen UID:
767323
Concept ID:
C3554409
Disease or Syndrome
Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. Affected individuals typically present with sparse to absent scalp hair, and may have brittle or absent eyebrows and eyelashes as well as sparse body hair, without hair shaft anomalies (summary by Pan et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).
Hypotrichosis 12
MedGen UID:
863000
Concept ID:
C4014563
Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.

Professional guidelines

PubMed

Thiele H, de Waha-Thiele S, Freund A, Zeymer U, Desch S, Fitzgerald S
EuroIntervention 2021 Aug 27;17(6):451-465. doi: 10.4244/EIJ-D-20-01296. PMID: 34413010Free PMC Article
Masuy I, Pannemans J, Tack J
Minerva Gastroenterol Dietol 2020 Jun;66(2):136-150. Epub 2019 Dec 9 doi: 10.23736/S1121-421X.19.02640-0. PMID: 31820883
Bellutti Enders F, Bader-Meunier B, Baildam E, Constantin T, Dolezalova P, Feldman BM, Lahdenne P, Magnusson B, Nistala K, Ozen S, Pilkington C, Ravelli A, Russo R, Uziel Y, van Brussel M, van der Net J, Vastert S, Wedderburn LR, Wulffraat N, McCann LJ, van Royen-Kerkhof A
Ann Rheum Dis 2017 Feb;76(2):329-340. Epub 2016 Aug 11 doi: 10.1136/annrheumdis-2016-209247. PMID: 27515057Free PMC Article

Recent clinical studies

Etiology

Askar H, Krois J, Göstemeyer G, Bottenberg P, Zero D, Banerjee A, Schwendicke F
Clin Oral Investig 2020 May;24(5):1869-1876. Epub 2020 Apr 17 doi: 10.1007/s00784-020-03268-7. PMID: 32300980
Westby MJ, Dumville JC, Soares MO, Stubbs N, Norman G
Cochrane Database Syst Rev 2017 Jun 22;6(6):CD011947. doi: 10.1002/14651858.CD011947.pub2. PMID: 28639707Free PMC Article
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384

Diagnosis

Chauhan K, Manjunatha BS, Mehendiratta M, Lakhanpal M
BMJ Case Rep 2023 Jan 4;16(1) doi: 10.1136/bcr-2022-251035. PMID: 36599490Free PMC Article
Askar H, Krois J, Göstemeyer G, Bottenberg P, Zero D, Banerjee A, Schwendicke F
Clin Oral Investig 2020 May;24(5):1869-1876. Epub 2020 Apr 17 doi: 10.1007/s00784-020-03268-7. PMID: 32300980
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Lustig M, Donoho D, Pauly JM
Magn Reson Med 2007 Dec;58(6):1182-95. doi: 10.1002/mrm.21391. PMID: 17969013

Therapy

Li Q, Zhou Q, Florez ID, Mathew JL, Shang L, Zhang G, Tian X, Fu Z, Liu E, Luo Z, Chen Y
JAMA Pediatr 2022 Dec 1;176(12):1199-1207. doi: 10.1001/jamapediatrics.2022.4123. PMID: 36374480Free PMC Article
Levy B, Buzon J, Kimmoun A
Curr Opin Crit Care 2019 Aug;25(4):384-390. doi: 10.1097/MCC.0000000000000632. PMID: 31166204
Gemmell LC, Webster KE, Kirtley S, Vincent K, Zondervan KT, Becker CM
Hum Reprod Update 2017 Jul 1;23(4):481-500. doi: 10.1093/humupd/dmx011. PMID: 28498913Free PMC Article
Stoffers JM, Völlm BA, Rücker G, Timmer A, Huband N, Lieb K
Cochrane Database Syst Rev 2012 Aug 15;2012(8):CD005652. doi: 10.1002/14651858.CD005652.pub2. PMID: 22895952Free PMC Article
Bright TJ, Wong A, Dhurjati R, Bristow E, Bastian L, Coeytaux RR, Samsa G, Hasselblad V, Williams JW, Musty MD, Wing L, Kendrick AS, Sanders GD, Lobach D
Ann Intern Med 2012 Jul 3;157(1):29-43. doi: 10.7326/0003-4819-157-1-201207030-00450. PMID: 22751758

Prognosis

Khoo T, Lilleker JB, Thong BY, Leclair V, Lamb JA, Chinoy H
Nat Rev Rheumatol 2023 Nov;19(11):695-712. Epub 2023 Oct 6 doi: 10.1038/s41584-023-01033-0. PMID: 37803078
Zuercher P, Schenk NV, Moret C, Berger D, Abegglen R, Schefold JC
Chest 2020 Nov;158(5):1983-1991. Epub 2020 Jun 7 doi: 10.1016/j.chest.2020.05.576. PMID: 32525018
Maselli F, Storari L, Barbari V, Colombi A, Turolla A, Gianola S, Rossettini G, Testa M
BMC Musculoskelet Disord 2020 Jun 3;21(1):343. doi: 10.1186/s12891-020-03357-4. PMID: 32493481Free PMC Article
Park SY, Freedman ND, Haiman CA, Le Marchand L, Wilkens LR, Setiawan VW
Ann Intern Med 2017 Aug 15;167(4):228-235. Epub 2017 Jul 11 doi: 10.7326/M16-2472. PMID: 28693036Free PMC Article
Pavasini R, Guralnik J, Brown JC, di Bari M, Cesari M, Landi F, Vaes B, Legrand D, Verghese J, Wang C, Stenholm S, Ferrucci L, Lai JC, Bartes AA, Espaulella J, Ferrer M, Lim JY, Ensrud KE, Cawthon P, Turusheva A, Frolova E, Rolland Y, Lauwers V, Corsonello A, Kirk GD, Ferrari R, Volpato S, Campo G
BMC Med 2016 Dec 22;14(1):215. doi: 10.1186/s12916-016-0763-7. PMID: 28003033Free PMC Article

Clinical prediction guides

Brondeel KC, Malone KT, Ditmars FR, Vories BA, Ahmadzadeh S, Tirumala S, Fox CJ, Shekoohi S, Cornett EM, Kaye AD
Curr Pain Headache Rep 2023 May;27(5):81-88. Epub 2023 Apr 6 doi: 10.1007/s11916-023-01104-7. PMID: 37022564
Zhou D, Jiang Y, Zhong X, Cox NJ, Liu C, Gamazon ER
Nat Genet 2020 Nov;52(11):1239-1246. Epub 2020 Oct 5 doi: 10.1038/s41588-020-0706-2. PMID: 33020666Free PMC Article
Harvey RL
Phys Med Rehabil Clin N Am 2015 Nov;26(4):583-98. Epub 2015 Sep 26 doi: 10.1016/j.pmr.2015.07.002. PMID: 26522899
Thibaut S, De Becker E, Caisey L, Baras D, Karatas S, Jammayrac O, Pisella PJ, Bernard BA
Br J Dermatol 2010 Feb 1;162(2):304-10. Epub 2009 Sep 1 doi: 10.1111/j.1365-2133.2009.09487.x. PMID: 19804590
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384

Recent systematic reviews

Sierżantowicz R, Ładny JR, Lewko J
Int J Environ Res Public Health 2022 Jul 26;19(15) doi: 10.3390/ijerph19159078. PMID: 35897447Free PMC Article
Eron K, Kohnert L, Watters A, Logan C, Weisner-Rose M, Mehler PS
Am J Occup Ther 2020 Mar/Apr;74(2):7402205010p1-7402205010p14. doi: 10.5014/ajot.2020.037358. PMID: 32204779
Kallio H, Pietilä AM, Johnson M, Kangasniemi M
J Adv Nurs 2016 Dec;72(12):2954-2965. Epub 2016 Jun 23 doi: 10.1111/jan.13031. PMID: 27221824
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Di Monaco M, Castiglioni C
Eur J Phys Rehabil Med 2013 Dec;49(6):893-907, quiz 921-3. Epub 2013 Oct 30 PMID: 24172644

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