Proteus syndrome: Misdiagnosis with PTEN mutations

@article{Cohen2003ProteusSM,
  title={Proteus syndrome: Misdiagnosis with PTEN mutations},
  author={Marsha M. Cohen and Joyce T. Turner and Leslie G. Biesecker},
  journal={American Journal of Medical Genetics Part A},
  year={2003},
  volume={122A}
}
In this editorial, we briefly (1) define Proteus syndrome; (2) analyze reports of PTEN mutations claimed to have ‘‘Proteus syndrome’’ or a ‘‘Proteus-like syndrome’’; (3) demonstrate the high frequency of misdiagnosis of Proteus syndrome by clinicians less familiar with the disorder; and (4) discuss two series of patients who do meet the diagnostic criteria for Proteus syndrome among whom none have been found to have PTENmutations. Proteus syndrome is a highly variable disorder with strikingly… 
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Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was
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TLDR
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TLDR
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TLDR
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TLDR
The limited understanding of the natural history of childhood‐onset PHTS as a cancer predisposition syndrome is acknowledged and a summary of important management considerations is presented.
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TLDR
PTEN mutations were found in all six families meeting the clinical criteria for Cowden syndrome, and in none of the eight families selected in the computerized medical files to have a combination of breast and thyroid cancers.
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TLDR
Effective management of Proteus syndrome requires knowledge of the wide array of manifestations and complications of the disorder and a team approach that includes the geneticist, surgeons, and other specialists.
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References

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TLDR
One of the mandatory diagnostic criteria for Proteus syndrome is a mosaic distribution of lesions and sporadic occurrence, entirely consistent with Happle's hypothesis.
Germline mutation of the tumour suppressor PTEN in Proteus syndrome
TLDR
Clinical overlap exists between PS and another hamartoma syndrome, Bannayan-Riley-Ruvalcaba syndrome, in which up to 60% of affected subjects are known to carry a germline mutation of the tumour suppressor gene PTEN .6 BRR also shows partial clinical overlap with Cowden syndrome.
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TLDR
PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future and postulate that the second hit, R130X, occurred early in embryonic development and may even represent germline mosaicism.
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TLDR
It was found that imaging studies are very useful for the characterization of the syndrome and one finding was that splenic hyperplasia can be a manifestation of Proteus syndrome.
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TLDR
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TLDR
Selective aspects of Proteus syndrome not previously reviewed are presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.
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TLDR
Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/ or other skull anomalies, and the term Proteus syndrome is proposed for this ‘new’ syndrome.
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TLDR
A girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas is presented.
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