1
Department of Dermatology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2
Psychodermatology, Psychosomatic Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
Abstract
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.
Khangembam CB, Karunanithi S, Sharma P, Agarwal KK, Singhal A, Dhull VS, et al. Proteus syndrome: A case report with bone scintigraphy findings. Diagn Interv Radiol 2013;19:240-3.
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K. A mosaic activating mutation in AKT1 associated with the proteus syndrome. N Engl J Med 2011;365:611-9.
Mirastschijski U, Altmann S, Lenz-Scharf O, Muschke P, Schneider W. Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment. J Plast Surg Hand Surg 2012;46:45-8.
Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet A 2004;130:111-22.
Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, et al. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 2001;358:210-1.
Asilian,A. , Kamali,A. S. , Riahi,N. T. , Adibi,N. and Mokhtari,F. (2017). Proteus Syndrome with Arteriovenous Malformation. Advanced Biomedical Research, 2017(March), 1-3.
MLA
Asilian,A. , , Kamali,A. S. , , Riahi,N. T. , , Adibi,N. , and Mokhtari,F. . "Proteus Syndrome with Arteriovenous Malformation", Advanced Biomedical Research, 2017, March, 2017, 1-3.
HARVARD
Asilian A., Kamali A. S., Riahi N. T., Adibi N., Mokhtari F. (2017). 'Proteus Syndrome with Arteriovenous Malformation', Advanced Biomedical Research, 2017(March), pp. 1-3.
CHICAGO
A. Asilian, A. S. Kamali, N. T. Riahi, N. Adibi and F. Mokhtari, "Proteus Syndrome with Arteriovenous Malformation," Advanced Biomedical Research, 2017 March (2017): 1-3,
VANCOUVER
Asilian A., Kamali A. S., Riahi N. T., Adibi N., Mokhtari F. Proteus Syndrome with Arteriovenous Malformation. Advanced Biomedical Research, 2017; 2017(March): 1-3.