Proteus syndrome: Clinical profile of six patients and review of literature.
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Date
2013-04
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Abstract
OBJECTIVE:
Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients.
MATERIALS AND METHODS:
Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome.
RESULTS:
Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood.
CONCLUSION:
Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.
Description
Keywords
Hamartoma, hemihypertrophy, lipoma, localized overgrowth, macrodactyly
Citation
Angurana Suresh Kumar, Angurana Renu Suthar, Panigrahi Inusha, Marwaha Ram Kumar. Proteus syndrome: Clinical profile of six patients and review of literature. Indian Journal of Human Genetics. 2013 Apr; 19(2): 202-206.