Abstract:
: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.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Rubegni P,Risulo M,Sbano P,Buonocore G,Perrone S,Fimiani Mdoi
10.1046/j.1365-2230.2003.01329.xkeywords:
subject
Has Abstractpub_date
2003-07-01 00:00:00pages
387-90issue
4eissn
0307-6938issn
1365-2230pii
1329journal_volume
28pub_type
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