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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 ...
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]
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]
The diagnosis of PB may be suggested in individuals with the clinical presentation of PB plus the presence of a family history of mammary secretory carcinomas, lobular carcinoma, ductal carcinoma in situ, invasive ductal carcinomas of no special type, [4] [5] [14] Cowden disease, Noonan syndrome, Proteus syndrome, or neurofibromatosis type 1. [14]
Genetic or inherited causes of lipomas play a role in around 2-3% of patients. [25] In individuals with inherited familial syndromes such as Proteus syndrome or Familial multiple lipomatosis, it is common to see multiple lipomas across the body. [25] These syndromes are also associated with specific symptoms and sub-populations.
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]
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular ...
ZAP70 deficiency, or ZAP70 deficient SCID, [1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells. [2] People with this disease lack the capability to fight infections, and it is fatal if untreated. It is cause by a mutation in the ZAP70 gene.