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Prominent superficial blood vessels

MedGen UID:
376437
Concept ID:
C1848771
Finding
Synonym: Prominent superficial vasculature
 
HPO: HP:0007394

Conditions with this feature

ALDH18A1-related de Barsy syndrome
MedGen UID:
1720006
Concept ID:
C5234852
Disease or Syndrome
De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. Genetic Heterogeneity of de Barsy Syndrome Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25.
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
Restrictive dermopathy 1
MedGen UID:
1812447
Concept ID:
C5676878
Disease or Syndrome
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

Professional guidelines

PubMed

Shrestha B , Karmacharya RM
Kathmandu Univ Med J (KUMJ) 2020 Jan.-Mar;18(69):28-31. PMID: 33582684
Cubiró X, Rozas-Muñoz E, Castel P, Roé Crespo E, Garcia-Melendo C, Puig L, Baselga E
Pediatr Dermatol 2020 Sep;37(5):833-838. Epub 2020 Jul 1 doi: 10.1111/pde.14252. PMID: 32608066
Dirven M, van der Jagt MF, Barendregt WB, van der Vliet D
Ann Vasc Surg 2015 Aug;29(6):1188-95. Epub 2015 May 22 doi: 10.1016/j.avsg.2015.03.043. PMID: 26009479

Recent clinical studies

Etiology

Cetinkaya T, Kurt MM, Akpolat C
Clin Exp Optom 2022 Nov;105(8):848-852. Epub 2021 Dec 7 doi: 10.1080/08164622.2021.1999770. PMID: 34875203
Libby P, Pasterkamp G, Crea F, Jang IK
Circ Res 2019 Jan 4;124(1):150-160. doi: 10.1161/CIRCRESAHA.118.311098. PMID: 30605419Free PMC Article
Grüntzig J, Hollmann F
Ann Anat 2019 Jan;221:1-16. Epub 2018 Sep 18 doi: 10.1016/j.aanat.2018.08.004. PMID: 30240907
Greene BJ, Topf MC, Meyers SP, Man LX
JAMA Otolaryngol Head Neck Surg 2014 Feb;140(2):177-8. doi: 10.1001/jamaoto.2013.5885. PMID: 24309710
Leung FP, Yung LM, Laher I, Yao X, Chen ZY, Huang Y
Sports Med 2008;38(12):1009-24. doi: 10.2165/00007256-200838120-00005. PMID: 19026018

Diagnosis

Cetinkaya T, Kurt MM, Akpolat C
Clin Exp Optom 2022 Nov;105(8):848-852. Epub 2021 Dec 7 doi: 10.1080/08164622.2021.1999770. PMID: 34875203
Dimitrova G, Chihara E
Ophthalmologica 2019;241(4):179-182. Epub 2019 Jan 16 doi: 10.1159/000495624. PMID: 30650416
Grüntzig J, Hollmann F
Ann Anat 2019 Jan;221:1-16. Epub 2018 Sep 18 doi: 10.1016/j.aanat.2018.08.004. PMID: 30240907
Blockmans D, Bley T, Schmidt W
Curr Opin Rheumatol 2009 Jan;21(1):19-28. doi: 10.1097/BOR.0b013e32831cec7b. PMID: 19077714
Misago N, Mori T, Yoshioka M, Narisawa Y
Clin Exp Dermatol 2007 Sep;32(5):536-8. Epub 2007 May 16 doi: 10.1111/j.1365-2230.2007.02460.x. PMID: 17509055

Therapy

Lee HJ, Ryu SY, Cong L, Ahn HJ, Park MK, Kim HJ, Hu KS
Dermatol Surg 2019 Feb;45(2):203-209. doi: 10.1097/DSS.0000000000001655. PMID: 30286001
Grüntzig J, Hollmann F
Ann Anat 2019 Jan;221:1-16. Epub 2018 Sep 18 doi: 10.1016/j.aanat.2018.08.004. PMID: 30240907
Pires L, Ráfare AL, Peixoto BU, Pereira TOJS, Pinheiro DMM, Siqueira MEB, Vaqueiro RD, de Paula RC, Babinski MA, Chagas CAA
Morphologie 2018 Jun;102(337):78-82. Epub 2018 Apr 4 doi: 10.1016/j.morpho.2018.02.001. PMID: 29625795
Atasoy MM
Clin Radiol 2015 Jan;70(1):48-53. Epub 2014 Oct 16 doi: 10.1016/j.crad.2014.09.013. PMID: 25446324
Hickey M, Fraser IS
Hum Reprod 2002 Sep;17(9):2428-34. doi: 10.1093/humrep/17.9.2428. PMID: 12202436

Prognosis

Clarke E, Skrzat J, Mazur M, Musiał A, Sienkiewicz J, Radek M, Polguj M, Wysiadecki G
Folia Morphol (Warsz) 2022;81(1):227-233. Epub 2021 Feb 12 doi: 10.5603/FM.a2021.0014. PMID: 33577075
Libby P, Pasterkamp G, Crea F, Jang IK
Circ Res 2019 Jan 4;124(1):150-160. doi: 10.1161/CIRCRESAHA.118.311098. PMID: 30605419Free PMC Article
Chidambara L, Gadde SG, Yadav NK, Jayadev C, Bhanushali D, Appaji AM, Akkali M, Khurana A, Shetty R
Br J Ophthalmol 2016 Nov;100(11):1482-1488. Epub 2016 Jan 28 doi: 10.1136/bjophthalmol-2015-307941. PMID: 26823394
Greene BJ, Topf MC, Meyers SP, Man LX
JAMA Otolaryngol Head Neck Surg 2014 Feb;140(2):177-8. doi: 10.1001/jamaoto.2013.5885. PMID: 24309710
Blockmans D, Bley T, Schmidt W
Curr Opin Rheumatol 2009 Jan;21(1):19-28. doi: 10.1097/BOR.0b013e32831cec7b. PMID: 19077714

Clinical prediction guides

Cubiró X, Rozas-Muñoz E, Castel P, Roé Crespo E, Garcia-Melendo C, Puig L, Baselga E
Pediatr Dermatol 2020 Sep;37(5):833-838. Epub 2020 Jul 1 doi: 10.1111/pde.14252. PMID: 32608066
Iwashita W, Kurabayashi A, Tanaka C, Naganuma S, Kawamura T, Aki F, Furihata M
Int J Surg Pathol 2020 Sep;28(6):683-687. Epub 2020 Mar 24 doi: 10.1177/1066896920913116. PMID: 32204631
Grüntzig J, Hollmann F
Ann Anat 2019 Jan;221:1-16. Epub 2018 Sep 18 doi: 10.1016/j.aanat.2018.08.004. PMID: 30240907
Pires L, Ráfare AL, Peixoto BU, Pereira TOJS, Pinheiro DMM, Siqueira MEB, Vaqueiro RD, de Paula RC, Babinski MA, Chagas CAA
Morphologie 2018 Jun;102(337):78-82. Epub 2018 Apr 4 doi: 10.1016/j.morpho.2018.02.001. PMID: 29625795
Blockmans D, Bley T, Schmidt W
Curr Opin Rheumatol 2009 Jan;21(1):19-28. doi: 10.1097/BOR.0b013e32831cec7b. PMID: 19077714

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