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Trichomegaly(TCMGLY)

MedGen UID:
163139
Concept ID:
C0854699
Finding
Synonym: TCMGLY
 
Gene (location): FGF5 (4q21.21)
 
Monarch Initiative: MONDO:0008593
OMIM®: 190330

Definition

Trichomegaly (TCMGLY), or excessively long eyelashes, is a rare familial trait (Higgins et al., 2014). [from OMIM]

Clinical features

From HPO
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Professional guidelines

PubMed

Panariello L, Donnarumma M, Iaffaioli RV, Chiodini P, Annunziata MC, Peduto T, Fabbrocini G
Clin Colorectal Cancer 2020 Dec;19(4):e235-e242. Epub 2020 May 29 doi: 10.1016/j.clcc.2020.05.006. PMID: 32665093
Chu CY, Chen KY, Wen-Cheng Chang J, Wei YF, Lee CH, Wang WM
J Formos Med Assoc 2017 Jun;116(6):413-423. Epub 2017 Mar 27 doi: 10.1016/j.jfma.2017.03.001. PMID: 28351555
Basti S
Cancer Nurs 2007 Jul-Aug;30(4 Suppl 1):S10-6. doi: 10.1097/01.NCC.0000281759.23823.82. PMID: 17666986

Recent clinical studies

Etiology

Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300
Jedličková H, Vokurka S, Vojtíšek R, Malečková A
Klin Onkol 2019 Fall;32(5):353-359. doi: 10.14735/amko2019353. PMID: 31610668
Vij A, Bergfeld WF
Clin Dermatol 2015 Mar-Apr;33(2):217-26. doi: 10.1016/j.clindermatol.2014.10.013. PMID: 25704941
Celik T, Kosker M
Cont Lens Anterior Eye 2015 Feb;38(1):59-60. Epub 2014 Sep 22 doi: 10.1016/j.clae.2014.08.005. PMID: 25249292
Vano-Galvan S, Moreno-Martin P, Jaén P
Neth J Med 2009 Jan;67(1):35-6. PMID: 19155549

Diagnosis

Alexandris D, Alevizopoulos N, Palamaris K, Gakiopoulou C, Theocharis S
J Oncol Pharm Pract 2023 Apr;29(3):731-737. Epub 2022 Jul 12 doi: 10.1177/10781552221114073. PMID: 35821579
Joganathan V, Norris JH
Ophthalmic Plast Reconstr Surg 2019 Jan/Feb;35(1):e12-e13. doi: 10.1097/IOP.0000000000001277. PMID: 30531213
Vij A, Bergfeld WF
Clin Dermatol 2015 Mar-Apr;33(2):217-26. doi: 10.1016/j.clindermatol.2014.10.013. PMID: 25704941
Rossetto JD, Nascimento H, Muccioli C, Belfort R Jr
Arq Bras Oftalmol 2013 Jan-Feb;76(1):50-1. doi: 10.1590/s0004-27492013000100015. PMID: 23812530
Lane K, Goldstein SM
Ophthalmic Plast Reconstr Surg 2007 Jan-Feb;23(1):65-6. doi: 10.1097/IOP.0b013e31802d9802. PMID: 17237698

Therapy

Sütcüoğlu O, Özet A
Curr Probl Cancer 2021 Dec;45(6):100748. Epub 2021 Apr 23 doi: 10.1016/j.currproblcancer.2021.100748. PMID: 33933278
Jedličková H, Vokurka S, Vojtíšek R, Malečková A
Klin Onkol 2019 Fall;32(5):353-359. doi: 10.14735/amko2019353. PMID: 31610668
Freites-Martinez A, Shapiro J, Goldfarb S, Nangia J, Jimenez JJ, Paus R, Lacouture ME
J Am Acad Dermatol 2019 May;80(5):1179-1196. Epub 2018 Apr 14 doi: 10.1016/j.jaad.2018.03.055. PMID: 29660422Free PMC Article
Koksal UI, Pilanci KN, Ordu C, Okutur K, Saglam S, Demir G
Am J Ther 2016 Sep-Oct;23(5):e1226-9. doi: 10.1097/MJT.0000000000000189. PMID: 26079631
Lane K, Goldstein SM
Ophthalmic Plast Reconstr Surg 2007 Jan-Feb;23(1):65-6. doi: 10.1097/IOP.0b013e31802d9802. PMID: 17237698

Prognosis

Goyal A, Blaes A
N Engl J Med 2020 Oct 15;383(16):e94. doi: 10.1056/NEJMicm2003622. PMID: 33053288
Jedličková H, Vokurka S, Vojtíšek R, Malečková A
Klin Onkol 2019 Fall;32(5):353-359. doi: 10.14735/amko2019353. PMID: 31610668
Vij A, Bergfeld WF
Clin Dermatol 2015 Mar-Apr;33(2):217-26. doi: 10.1016/j.clindermatol.2014.10.013. PMID: 25704941
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM
J Med Genet 2015 Feb;52(2):85-94. Epub 2014 Dec 5 doi: 10.1136/jmedgenet-2014-102856. PMID: 25480986Free PMC Article
Cassano N, Amerio P, D'Ovidio R, Vena GA
G Ital Dermatol Venereol 2014 Oct;149(5):555-65. Epub 2014 Jun 30 PMID: 24975949

Clinical prediction guides

Agirgol S, Çaytemel C, Pilanci KN
Cutan Ocul Toxicol 2020 Dec;39(4):380-384. Epub 2020 Oct 20 doi: 10.1080/15569527.2020.1833028. PMID: 33028137
Kim JS, Blizzard S, Woodward JA, Leyngold IM, Liss J, Freedman SF
Ophthalmol Glaucoma 2020 Jul-Aug;3(4):288-294. Epub 2020 Apr 3 doi: 10.1016/j.ogla.2020.03.009. PMID: 33008561
Jedličková H, Vokurka S, Vojtíšek R, Malečková A
Klin Onkol 2019 Fall;32(5):353-359. doi: 10.14735/amko2019353. PMID: 31610668
Cassano N, Amerio P, D'Ovidio R, Vena GA
G Ital Dermatol Venereol 2014 Oct;149(5):555-65. Epub 2014 Jun 30 PMID: 24975949
Alexandrescu DT, Kauffman CL, Dasanu CA
Dermatol Online J 2009 Mar 15;15(3):1. PMID: 19379645

Recent systematic reviews

Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300

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