Document Detail


Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement.
MedLine Citation:
PMID:  12823300     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.
Authors:
P Rubegni; M Risulo; P Sbano; G Buonocore; S Perrone; M Fimiani
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical and experimental dermatology     Volume:  28     ISSN:  0307-6938     ISO Abbreviation:  Clin. Exp. Dermatol.     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-06-25     Completed Date:  2003-09-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7606847     Medline TA:  Clin Exp Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  387-90     Citation Subset:  IM    
Affiliation:
Department of Dermatology, University of Siena, Siena, Italy. rubegni@unisi.it
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MeSH Terms
Descriptor/Qualifier:
Biopsy
Conjunctival Diseases / pathology
Diagnosis, Differential
Eyelid Diseases / pathology
Female
Hamartoma Syndrome, Multiple / diagnosis*,  pathology
Humans
Infant, Newborn
Lipomatosis / diagnosis*,  pathology
Magnetic Resonance Imaging
Neurocutaneous Syndromes / diagnosis*,  pathology
Scalp Dermatoses / pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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