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Proteus syndrome is a rare genetic disorder [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations ...
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [2]
Bannayan–Riley–Ruvalcaba syndrome; Other names: BRRS: Autosomal dominant is the manner in which this condition is inherited: Specialty: Oncology, medical genetics Symptoms: Enlarged head [1] Causes: Mutations in the PTEN gene [2] Diagnostic method: Based on signs and symptoms [3] Treatment: Based on symptoms [3]
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
It seems this treatment is having tremendous and quick effects. CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few. 'CLOVES' is an acronym for: [2] [3] C is for congenital.
Treatment of PROS diseases is variable and depends on the specific disease. Curative treatment does not exist and most treatments are given to control symptoms. Overgrowth and malformations of solid tissues can be treated with surgery. Sclerotherapy can be used to treat vascular malformations. [5]
Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain cause. [1] It's characterized by skeletal and hamartous overgrowth of multiple tissues, nevi in cerebriform connective tissue, blood vessel malformations and linear epidermal nevi. [2] [3]
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.