| Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome. | |
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MedLine Citation:
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PMID: 10213042 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowth. This unusual case is taken as a clue to postulate the Elattoproteus syndrome, an inverse form of Proteus syndrome. The paradoxical coexistence of hyperplastic and hypoplastic lesions may reflect a twin spot phenomenon. The patient would carry at the Proteus locus one allele giving rise to overgrowth of tissues (Pleioproteus allele--from Greek pleion, meaning plus), whereas the other allele would cause deficient growth of tissues (Elattoproteus allele--from Greek elatton, meaning minus). At an early stage of embryogenesis, somatic recombination would give rise to two different populations of cells homozygous for either allele. From a heuristic point of view, one may postulate the existence of the Elattoproteus syndrome, a purely inverse form of Proteus syndrome that would develop in the absence of the Pleioproteus allele. |
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Authors:
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R Happle |
Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 84 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1999 May |
Date Detail:
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Created Date: 1999-05-27 Completed Date: 1999-05-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 25-8 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Philipp University of Marburg, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Child Humans Male Phenotype Proteus Syndrome / genetics*, pathology Skin Abnormalities / genetics*, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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