title: 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.
authors.affiliation: Department of Dermatology, University of Siena, Siena, Italy. rubegni@unisi.it
authors.forename: P
authors.initials: P
authors.lastname: Rubegni
authors.forename: M
authors.initials: M
authors.lastname: Risulo
authors.forename: P
authors.initials: P
authors.lastname: Sbano
authors.forename: G
authors.initials: G
authors.lastname: Buonocore
authors.forename: S
authors.initials: S
authors.lastname: Perrone
authors.forename: M
authors.initials: M
authors.lastname: Fimiani
mesh_terms: D001706:Biopsy; D003229:Conjunctival Diseases / Q000473:pathology; D003937:Diagnosis, Differential; D005141:Eyelid Diseases / Q000473:pathology; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000473:pathology; D012536:Scalp Dermatoses / Q000473:pathology