Proteus-like syndrome

Title

Other Names:

Cohen-Hayden syndrome

Categories:

Congenital and Genetic Diseases; Rare Cancers; Skin Diseases

This disease is grouped under:

PTEN hamartoma tumor syndrome

Summary Summary

Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.[9723]^[1]

Last updated: 10/5/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal pupil morphology	Abnormality of the pupil Pupillary abnormalities Pupillary abnormality [ more ]	0000615
Epidermal nevus		0010816
Genu recurvatum	Back knee Knee hyperextension [ more ]	0002816
Hemangioma	Strawberry mark	0001028
Hyperostosis	Bone overgrowth	0100774
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Irregular hyperpigmentation		0007400
Limbal dermoid		0001140
Lower limb asymmetry	Left and right leg differ in length or width	0100559
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Open bite	Absence of overlap of upper and lower teeth Open bite between upper and lower teeth [ more ]	0010807
Subcutaneous lipoma		0001031
30%-79% of people have these symptoms
Abnormality of the parathyroid gland		0000828
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Communicating hydrocephalus		0001334
Exostoses	Formation of new noncancerous bone on top of existing bone	0100777
Heterochromia iridis	Different colored eyes	0001100
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Retinal detachment	Detached retina	0000541
Shagreen patch		0009721
Venous insufficiency	Poorly functioning veins	0005293
5%-29% of people have these symptoms
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Bronchogenic cyst		0100730
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Polycystic ovaries		0000147
Skeletal dysplasia		0002652
Splenomegaly	Increased spleen size	0001744
Thymus hyperplasia	Enlarged thymus	0010516

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Last updated: 2/1/2021

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

PTEN Hamartoma Tumor Syndrome Foundation
E-mail: ptensyndromefoundation@gmail.com
Website: http://www.ptenfoundation.org

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Proteus-like syndrome. Click on the link to view a sample search on this topic.

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References References

Peter P Stanich, MD; Noralane M Lindor, MD; Mrinal M Patnaik, MBBS. PTEN hamartoma tumor syndrome, including Cowden syndrome. UpToDate. February 2015; Accessed 10/5/2015.

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