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proteus_syndrome

Proteus Syndrome

This is another syndrome that presents with lymphedema as part of its phenotype or as a complication of the syndrome. First identified in 1979 by Michael Cohen, Jr., MDM, Ph.D.. In 1983, it was name Proteus Syndrome by a German pediatrician, Has Rudolf Wiedmann. He named it for the Greek God Proteus “the polymorphous” presumably because of the variable manifestations in the four unrelated boys first identified with the syndrome.

Also known as Wiedmann's Syndrome, this condition in a congenital disorder.

Complications, in addition to lymphedema, include: extensive tumors, skin overgrowth and atypical bone development.

Gene Associated with Proteus syndrome

Abstracts and Studies

Penile reconstruction for a case of genital lymphoedema secondary to proteus syndrome.

Ashouri F, Manners J, Rees R.

Source

Department of Urology, RHCH, SO22 5DE Winchester, UK.

Abstract

To our knowledge penile lymphoedema secondary to Proteus syndrome has not previously been reported. Hence we report a case of a 16-year-old male who was referred with features of right hemi-hypertrophy and severe lymphoedema affecting his scrotum and penis. He had previously undergone scrotal reduction surgery at the age of 13, but had since developed worsening penile oedema. His main concern was that of cosmetic appearance prior to sexual debut, and he also complained of erectile dysfunction. An MRI confirmed gross oedema of the penile skin, but normal underlying cavernosal structure, and no other anatomical abnormality. Under general anaesthesia, the entire diseased penile skin was excised. Two full thickness skin grafts were harvested from the axillae, and grafted onto the dorsal and ventral penile shaft respectively. A compressive dressing and urinary catheter was applied for 7 days. Follow-up at 4 months confirmed complete graft take with minimal scarring, and the patient was very satisfied with the cosmetic outcome. He had also noticed a recovery in erectile activity, and feels psychologically and physically more prepared for sexual relations.

PubMed

Chronic rectal bleeding in Proteus syndrome.

Siow SL, Sim NK. Source Department of Surgery, Sarawak General Hospital, Jalan Hospital, 93586 Kuching, Sawarak, Malaysia. szeli18@yahoo.com Abstract Proteus Syndrome is a rare congenital hamartomatous disorder that typically manifests itself in overgrowth, vascular malformation and disregulation of fatty tissue. The tissues affected are commonly the limbs but can be of any tissue. Vascular anomalies are common and appear at random sites on the body. Diagnosis is often difficult leading to wrong treatment. We describe a case of a 17-year-old girl with Proteus syndrome presented with symptomatic anaemia secondary to chronic rectal bleeding. Computed Tomography Angiogram of Abdomen and Pelvis confirmed the presence of rectal vascular malformations.

PubMed

Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.

Apr 2011

Lim GY, Kim OH, Kim HW, Lee KS, Kang KH, Song HR, Cho TJ.

Source

Department of Radiology, St. Mary's Hospital, Catholic University, Seoul, South Korea.

Abstract

We report on two patients with Proteus syndrome (PS), with emphasis on its pulmonary manifestations. The first patient was a 6-year-old girl diagnosed with PS at 5 years of age. The pulmonary abnormalities first observed at age 3 years and included streaky densities with accentuated vascular markings detected by chest radiography. The patient had persistent abnormalities on follow-up chest radiographs. Chest computed tomography (CT) scans showed diffuse pulmonary venous dilatations. The second patient was a 10-year-old boy diagnosed with PS at age 4 years. Chest radiography and CT scans showed patchy and streaky densities intermixed with small bullae, which were interpreted as pneumonia with post-inflammatory pneumatoceles. The patient developed diffuse enlargement of air spaces of the lungs at age 10 years with severe respiratory compromise. Although pulmonary manifestations in PS are uncommon, recognition of pulmonary vein malformation and the presentation of enlarged air spaces in the lungs at an earlier age are important for accurate diagnosis. The plain radiograph findings of accentuated vascular markings seen in patients with PS may appear similar to interstitial or chronic pneumonia. This report emphasizes the features of lung involvement in children with PS and suggests that specific attention be paid to pulmonary manifestations using chest CT scans.

Wiley Online Library

Proteus syndrome: high-resolution CT and CT pulmonary densitovolumetry findings.

2009

Irion KL, Hocchegger B, Marchiori E, Holemans JA, Smith RA, Raja RC, Singanayagam S.

Source

Liverpool Heart and Chest Hospital NHS Trust, Royal Liverpool University Hospital, Liverpool, United Kingdom. Klaus.irion@LHCH.NHS.UK

Abstract

Cystic transformation of the lungs in Proteus syndrome is considered an important manifestation of this disease. We describe a case of an 11-year-old girl with a diagnosis of Proteus syndrome with lung involvement. Low-dose multidetector computed tomography (CT) revealed extensive diffuse cystic lung disease with left lung predominance, affecting mostly the lower lung zones. The cystic lesions had various sizes and variable wall thickness. Postprocessing using CT histogram densitometric volumetry software (CT densitovolumetry), using the threshold -950 Houndsfield units (HU) for quantifying emphysema, revealed that 31% of her total lung volume was composed of areas with CT attenuation values below -950 HU

Journal Thoracic Imaging

Classification

ICD 10 Code: Q87.3

OMIM 176920

DiseasesDB 30070

eMedicine derm/721 and 1912

MeSH D016715

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proteus_syndrome.txt · Last modified: 2012/10/16 14:40 (external edit)