Parkes Weber syndrome
| Parkes Weber syndrome | |
|---|---|
| Specialty | Medical genetics  |
Parkes Weber Syndrome (PWS) is an uncommon congenital vascular malformation (CVM) similar to Klippel–Trénaunay syndrome, but has its own distinct conditions.[1][2] It was first described in 1907 by British dermatologist Frederick Parkes Weber.[3][2] It is only found in about 0.3% of the world population.[1]
Characteristics
PWS is characterized by the venous malformations, cutaneous capillary malformations, and lymphatic malformations found in Klippel–Trénaunay–Weber syndrome along with arteriovenous malformation.[2] It also can include fistulas occurring with skeletal or soft tissue hypertrophy.[1] The syndrome can affect multiple limbs, the trunk, and the head.[4] The body’s lower extremities are most commonly affected.[1]
Symptoms
Capillary Malformations
The most common effect of PWS is capillary malformations which are known as “port-wine stains”.[5] They first appears as a red macular stain of the skin that darkens over the years.[6] Capillary malformations are flat, cutaneous, slow-flowing lesions that are made of venous channels that are dilated or are increased in number.[6]
Vascular anomalies
Both arteriovenous malformations (AVM) and arteriovenous fistulas (AVF) are fast-flowing vascular anomalies.[6] They can be in the skin, muscle, bone, internal organs, and brain.[6] AVMs and AVFs can cause bleeding, congestive heart failure, or neurological consequences.[6] AVFs specifically cause the high output cardiac failure.[4] AVMs originate while going through embryogenesis and they are rarely found to regress spontaneously.[2] These complications can make PWS a life-threatening condition.[6]
Cause
Mutations on the RASA1 (RAS p21 protein activator 1) gene located on chromosome 5 cause Parkes Weber Syndrome.[5][7] In normal circumstances, this gene mediates cellular growth, differentiation, and proliferation from various receptor tyrosine kinases on cell surfaces.[7] Vascular anomalies are associated with this gene losing its function.[7]
The gene is spread through inheritance.[5] Recently patterns of autosomal dominance have been reported, which means the gene only needs to be from one parent in order to be passed on.[1] PWS affects both males and females equally and no racial predominance has been found.[1]
See also
References
- ^ a b c d e f Akhtar, M.A.; Campbell, D.J. (2008). "Successful obstetrical management of a woman with Parkes–Weber syndrome". European Journal of Obstetrics & Gynecology and Reproductive Biology. 140 (2): 290–1. doi:10.1016/j.ejogrb.2008.03.001. PMID 18439741.
- ^ a b c d Barlow, T.; Egun, A. (2010). "Spontaneous Regression of a Limb Arterio-Venous Malformation (AVM) in a Patient with Parkes-Weber Syndrome (PWS)". EJVES Extra. 20 (2): e14–5. doi:10.1016/j.ejvsextra.2010.05.002.
- ^ Parkes Weber, F. (1907). "Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring hæmorrhages". The Lancet. 170 (4377): 160–162. doi:10.1016/S0140-6736(00)32590-9.
- ^ a b Ninagawa, Jun; Yamada, Yoshitsugu (2010). "General anesthesia in a patient with Parkes Weber syndrome with high-output cardiac failure due to multiple arteriovenous fistulas complicated by severe aortic regurgitation". Journal of Anesthesia. 24 (2): 256–9. doi:10.1007/s00540-010-0875-8. PMID 20140461.
- ^ a b c De Wijn, Robert S.; Oduber, Charlène E.U.; Breugem, Corstiaan C.; Alders, Marielle; Hennekam, Raoul C.M.; Van Der Horst, Chantal M.A.M. (2012). "Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene". European Journal of Medical Genetics. 55 (3): 191–5. doi:10.1016/j.ejmg.2012.01.009. PMID 22342634.
- ^ a b c d e f Eerola, Iiro; Boon, Laurence M.; Mulliken, John B.; Burrows, Patricia E.; Dompmartin, Anne; Watanabe, Shoji; Vanwijck, Romain; Vikkula, Miikka (2003). "Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations". American Journal of Human Genetics. 73 (6): 1240–9. doi:10.1086/379793. PMC 1180390. PMID 14639529.
- ^ a b c Zhou, Q.; Zheng, J.W. (2009). "Research advances in relationship between RASA1 and vascular anomalies". International Journal of Oral and Maxillofacial Surgery. 38 (5): 598. doi:10.1016/j.ijom.2009.03.703.
External links
- Bayrak-Toydemir, Pinar; Stevenson, David (February 22, 2011). "RASA1-Related Disorders". In Pagon, Roberta A; Adam, Margaret P; Bird, Thomas D; Dolan, Cynthia R; Fong, Chin-To; Stephens, Karen (eds.). GeneReviews™.
{{cite book}}: External link in|chapterurl=|chapterurl=ignored (|chapter-url=suggested) (help) - Online Mendelian Inheritance in Man (OMIM): PARKES WEBER SYNDROME - 608355
- Online Mendelian Inheritance in Man (OMIM): TELANGIECTASIA, HEREDITARY BENIGN - 187260
- Online Mendelian Inheritance in Man (OMIM): TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT - 187300
- Online Mendelian Inheritance in Man (OMIM): STURGE-WEBER SYNDROME; SWS - 185300
- Online Mendelian Inheritance in Man (OMIM): KLIPPEL-TRENAUNAY-WEBER SYNDROME - 149000
- Online Mendelian Inheritance in Man (OMIM): GLOMUVENOUS MALFORMATIONS; GVM - 138000
- Online Mendelian Inheritance in Man (OMIM): RAS p21 PROTEIN ACTIVATOR 1; RASA1 - 139150
- Online Mendelian Inheritance in Man (OMIM): CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION - 608354