Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement.

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 Dermatol

authors

Rubegni P,Risulo M,Sbano P,Buonocore G,Perrone S,Fimiani M

doi

10.1046/j.1365-2230.2003.01329.x

keywords:

subject

Has Abstract

pub_date

2003-07-01 00:00:00

pages

387-90

issue

4

eissn

0307-6938

issn

1365-2230

pii

1329

journal_volume

28

pub_type

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