Protocol Details

The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	94-HG-0132
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: UNK Max Age: UNK
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Please send genetic summary pictures of affected body parts and immaging studies to Joyce Turner.
Keywords	Mental Retardation; Growth Retardation; Uniparental Isodisomy; Imprinting; Multiple Abnormalities; Proteus Syndrome; Overgrowth
Recruitment Keyword(s)	None
Condition(s)	Growth Disorder; Mental Retardation; Multiple Abnormalies
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Human Genome Research Institute

This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients.

Patients with Proteus syndrome and their parents may be eligible for this study. Parents will be studied, when possible, for comparison of molecular findings. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed.

Those enrolled in the study will have will be interviewed or complete questionnaires, or both, about how their disease affects them. (Parents will be asked about their feelings about having a child with a rare disorder.) Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor.

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Eligibility

INCLUSION CRITERIA:

For Proteus Patients

All affected subjects should have the following general criteria: mosaic distribution of lesions, progressive course, and sporadic occurrence.

In addition, they should have either 1 from A, 2 from B or 3 from C.

A. Cerebriform connective tissue nevus.

B. Epidermal nevus, Disproportionate overgrowth, specific tumors before the age of 30 years (bilateral. ovarian cystadenomas or monomorphic parotid adenoma).

C. Dysregulated adipose tissue, Vascular malformations, Lung cysts, Facial phenotype.

The Proteus mail-in and Proteus case review subjects must meet the same eligibility standards as those who come to the clinical center and this will be determined by the review of the materials.

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Citations:

Characterization of short tandem repeats from thirty-one human telomeres

Detection of a subtle rearrangement of chromosome 22 using molecular techniques

Biesecker LG, Peters KF, Darling TN, Choyke P, Hill S, Schimke N, Cunningham M, Meltzer P, Cohen MM Jr Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia Am J Med Genet 1998 Oct 2;79(4)

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Contacts:

Principal Investigator	Referral Contact	For more information:
Leslie G. Biesecker, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health Building 49 Room 4A56 49 Convent Drive Bethesda, Maryland 20892 (301) 402-2041 leslieb@helix.nih.gov	Julie Sapp National Human Genome Research Institute (NHGRI) National Institutes of Health Building 10 Room 3C710 10 Center Drive Bethesda, Maryland 20892 (301) 435-2832 sappj@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001403

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