Proteus-like syndrome
Alternate names[edit | edit source]
Cohen-Hayden syndrome
Definition[edit | edit source]
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.
Cause[edit | edit source]
Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene.
Inheritance[edit | edit source]
In these cases, the inheritance is autosomal dominant.
Signs and symptoms[edit | edit source]
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.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormal pupil morphology(Abnormality of the pupil)
- Epidermal nevus
- Genu recurvatum(Back knee)
- Hemangioma(Strawberry mark)
- Hyperostosis(Bone overgrowth)
- Intellectual disability(Mental deficiency)
- Irregular hyperpigmentation
- Limbal dermoid
- Lower limb asymmetry(Left and right leg differ in length or width)
- Myopia(Close sighted)
- Open bite(Absence of overlap of upper and lower teeth)
- Subcutaneous lipoma
30%-79% of people have these symptoms
- Abnormality of the parathyroid gland
- Cataract(Clouding of the lens of the eye)
- Communicating hydrocephalus
- Exostoses(Formation of new noncancerous bone on top of existing bone)
- Heterochromia iridis(Different colored eyes)
- Macrocephaly(Increased size of skull)
- Mandibular prognathia(Big lower jaw)
- Retinal detachment(Detached retina)
- Shagreen patch
- Venous insufficiency(Poorly functioning veins)
5%-29% of people have these symptoms
- Anteverted nares(Nasal tip, upturned)
- Bronchogenic cyst
- Dolichocephaly(Long, narrow head)
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Polycystic ovaries
- Skeletal dysplasia
- Splenomegaly(Increased spleen size)
- Thymus hyperplasia(Enlarged thymus)
Diagnosis[edit | edit source]
PTEN-related Proteus-like syndrome is undefined but describes individuals with significant clinical features of PS who do not meet the diagnostic criteria and who have a heterozygous germline PTEN pathogenic variant.[1][1].
Treatment[edit | edit source]
Topical agents (e.g., 5-fluorouracil), curettage, cryosurgery, or laser ablation may alleviate the mucocutaneous manifestations of CS but are rarely utilized; cutaneous lesions should be excised only if malignancy is suspected or symptoms (e.g., pain, deformity, increased scarring) are significant. [2][2].
References[edit | edit source]
- ↑ Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
- ↑ Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
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