Literature DB >> 33437561

Capillary Malformation-Arteriovenous Malformation Syndrome.

Razan Alluhaibi1, Layan N Alkhayat2, Wajd Aqeeli2.   

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant inherited rare type of vascular malformation encountered in a neonate and first described in 2003. It has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. In 2010, a German doctor proposed rhodoid nevus as a name for this type of capillary malformation; in ancient Greek, rhodoides means "rose-like" or "rose-colored." Accordingly, CM-AVM could also be called "rhodoid nevus syndrome." We report this case as its very challenging diagnosis with its further differentials and its association with thrombocytopenia.
Copyright © 2021, Alluhaibi et al.

Entities:  

Keywords:  capillary malformations (cms); capillary malformations-arteriovenous malformation (cm-avm); rasa1 gene; rasp21 protein; rhodoid nevus

Year:  2021        PMID: 33437561      PMCID: PMC7793427          DOI: 10.7759/cureus.12562

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  7 in total

1.  The rhodoid nevus: a proposed term for a so far unnamed capillary malformation.

Authors:  Rudolf Happle
Journal:  Dermatology       Date:  2010-11-15       Impact factor: 5.366

2.  Acquired digital arteriovenous malformations: laser treatment of an uncommon vascular abnormality.

Authors:  A Lapresta; E Hermosa; P Boixeda; R Carrillo-Gijón
Journal:  Actas Dermosifiliogr       Date:  2014-03-20

3.  Rhodoid naevus syndrome: why is this name preferable to 'capillary malformation-arteriovenous malformation'?

Authors:  R Panzer; R Happle; R Fölster-Holst
Journal:  J Eur Acad Dermatol Venereol       Date:  2017-07-11       Impact factor: 6.166

4.  RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.

Authors:  Lisa R Edwards; Adam B Blechman; Barrett J Zlotoff
Journal:  Pediatr Dermatol       Date:  2017-11-09       Impact factor: 1.588

5.  Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome.

Authors:  Changhyun Kim; Christine J Ko; Kenneth E Baker; Richard J Antaya
Journal:  Pediatr Dermatol       Date:  2013-07-07       Impact factor: 1.588

6.  Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Authors:  Iiro Eerola; Laurence M Boon; John B Mulliken; Patricia E Burrows; Anne Dompmartin; Shoji Watanabe; Romain Vanwijck; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2003-11-24       Impact factor: 11.025

Review 7.  Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.

Authors:  Igor Banzic; Milos Brankovic; Živan Maksimović; Lazar Davidović; Miroslav Marković; Zoran Rančić
Journal:  Phlebology       Date:  2016-08-09       Impact factor: 1.740

  7 in total

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