In 26 of 29 patients who met strict clinical criteria for the disorder, Lindhurst et al. identified an activating mutation in AKT1 kinase in a mosaic state gene.Previous research had suggested the condition linked to PTEN on chromosome 10, while other research pointed to chromosome 16. Prior to the findings regarding AKT1 in 2011, other researchers expressed doubt regarding the involvement of PTEN or GPC3, which codes for glypican 3 and may play a role in regulating cell division and growth regulation. Diagnosis
Differential diagnosis
Macrodystrophia lipomatosa
Fibrolipomatous hamartoma
Neurofibromatosis type 1
Klippel–Trénaunay syndrome
Parkes Weber syndrome
Sotos syndrome
Hemangiomas

Classification
Many sources classify Proteus syndrome to be a type of nevus syndrome. The lesions appear to be distributed in a mosaic manner. It has been confirmed that the disorder is an example of genetic mosaicism. Treatment
A team of doctors in Australia have trial tested the drug rapamycin in the treatment of a patient said to have Proteus syndrome and have found it to be an effective remedy. However, the diagnosis of Proteus syndrome in this patient has been questioned by others.The Proteus syndrome research team in the National Human Genome Research Institute at the United States National Institutes of Health have initiated a Phase 0 dose finding trial with the AKT1 inhibitor ARQ 092, which is being developed by the Arqule Corporation. In earlier tests on tissue and cell samples obtained from patients, ARQ 092 reduced phosphorylation of AKT and downstream targets of AKT in as little as two hours. The Phase 0 trial opened in November 2015.
Hepatic porphyrias is a form of porphyria in which toxic porphyrin molecules build up in the liver. Hepatic porphyrias can result from a number of different enzyme deficiencies.Examples include (in order of synthesis pathway):
Acute intermittent porphyria
Porphyria cutanea tarda and Hepatoerythropoietic porphyria
Hereditary coproporphyria
Variegate porphyria

See also
Erythropoietic porphyria
Givosiran

References
External links

Porphyrias,+Hepatic at the US National Library of Medicine Medical Subject Headings (MeSH)
www.drugs-porphyria.com
www.porphyria-europe.com