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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]
Chiasmal syndrome; Chilaiditi syndrome; Child sexual abuse accommodation syndrome; CHILD syndrome; childhood myelodysplastic syndrome; Childhood tumor syndrome; Chinese Restaurant Syndrome; Chromosomal deletion syndrome; Chromosome 5q deletion syndrome; Chronic fatigue syndrome; Chronic functional abdominal pain
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 ]
Incontinentia pigmenti is X-linked dominant and Sturge-Weber syndrome is sporadic. Some neurocutaneous disorders are found exclusively as mosaics such as Sturge-Weber syndrome and Proteus syndrome. Others such as neurofibromatosis type 1 and 2 as well as tuberous sclerosis complex can potentially be mosaics but may not be. [71]
CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA -related overgrowth syndromes (PROS).
It is interesting to note that individuals with two genetic diseases associated with the development of PB have gene mutations involving this pathway, i.e. the Proteus syndrome caused by an activating mutations in the AKT1 gene and the Cowden syndrome caused by a mutation in the PTEN (gene) tumor suppressor gene. [5]
Enterobacterales (of which Proteus is a member) and Pseudomonas species are the micro-organisms most commonly responsible for Gram-negative bacteremia and sepsis. The presence of the sepsis syndrome associated with a urinary tract infection (UTI) should raise the possibility of urinary tract obstruction. This is especially true of patients who ...