Proteus-like syndrome

Alternate names

Cohen-Hayden syndrome

Definition

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

Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

In these cases, the inheritance is autosomal dominant.

Signs and symptoms

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

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

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].

Treatment

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].