| Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. | |
| | |
MedLine Citation:
|
PMID: 1621755 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions. |
| | |
Authors:
|
S McCall; M I Ramzy; J K Curé; G S Pai |
Related Documents
:
|
16008655 - Blue rubber bleb naevus syndrome associated with cortical blindness. 6310795 - Vascular anomalies in association with osteodystrophies--a spectrum. 1532715 - Globus pallidus calcification in down syndrome with progressive neurologic deficits. 16012215 - Total oral rehabilitation in a patient with portwine stains. 3147155 - Severe aortic stenosis in systemic lupus erythematosus and mucopolysaccharidosis type i... 3425595 - The cfc syndrome--report of the first two cases outside the united states. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
|
Title: American journal of medical genetics Volume: 43 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1992 Jul |
Date Detail:
|
Created Date: 1992-08-03 Completed Date: 1992-08-03 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 662-8 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Medical University of South Carolina, Charleston 29425. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Bone Neoplasms
/
classification,
complications,
diagnosis* Child Child, Preschool Diagnosis, Differential Female Humans Infant, Newborn Lipomatosis / classification, complications, diagnosis* Male Proteus Syndrome / chemically induced, classification, diagnosis* Skin Neoplasms / classification, complications, diagnosis* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype.
Next Document: Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: re...