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proteus syndrome
Pathology:
- hamartomatous disorder
- thick bundles of collagen in the papillary & reticular dermis
Genetics:
- somatic-activating mutations of the AKT1 gene
- associated with defects in PTEN
Clinical manifestations:
1) overgrowth of multiple tissues
2) connective tissue & epidermal nevi
- plantar cerebriform collagenoma presents in 67% of patients
- the most characteristic skin finding in Proteus syndrome [2,3]
3) vascular malformations
4) manifestations usually apparent at birth or soon after & continue to develop as the patient ages
5) case report [2]
- macrodactyly of hands & feet
- lateral deviation of the affected fingers
- disproportionate overgrowth of the right extremity
- thoracolumbar scoliosis
* image of cerebriform plaques on both soles of feet [2]
Laboratory:
- PTEN gene mutation
Complications:
- tumors, mostly benign but some malignant, have also been reported in proteus syndrome, generally presenting by the age of 20 years & including:
a) papillary adenocarcinoma of the testis
b) meningioma
c) cystadenoma of the ovaries
Notes:
- named after the Greek god Proteus who, legend has it, could change his shape at will to avoid capture
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 176920
References
- UniProt :accession P60484
- Liu JW, Ma DL
Cerebriform Plaques in Proteus Syndrome
Mayo Clinic Proceedings. 2023 98(9):P1422 Sept
https://www.mayoclinicproceedings.org/article/S0025-6196(23)00235-5/fulltext
- Pithadia DJ, Cartron AM, Biesecker LG, Darling TN.
Dermatologic findings in individuals with genetically confirmed Proteus syndrome.
Pediatr Dermatol. 2021 Jul;38(4):794-799
PMID: 34105192 PMCID: PMC8403137 Free PMC article