title: Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement.
abstract: Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome with involvement of ectomesodermal tissues. Unilateral lipomatous hamartomas of the scalp and eyes are the hallmarks of this disorder. Associated findings are extremely variable, ranging from minor abnormalities to severe, debilitating disease. We report two unrelated Brazilian patients with encephalocraniocutaneous lipomatosis, one presenting with the full-blown spectrum of cutaneous, ocular, and central nervous system manifestations, and the other with minor extracutaneous manifestations after a 5-year follow-up period.
authors.affiliation: Department of Dermatology, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Brazil.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Sofiatti
authors.forename: Ana Gabriela
authors.initials: AG
authors.lastname: Cirto
authors.forename: Marcelo
authors.initials: M
authors.lastname: Arnone
authors.forename: Ricardo
authors.initials: R
authors.lastname: Romiti
authors.forename: Claudia
authors.initials: C
authors.lastname: Santi
authors.forename: Claudia
authors.initials: C
authors.lastname: Leite
authors.forename: Mirian
authors.initials: M
authors.lastname: Sotto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000505:Alopecia / Q000175:diagnosis; D001707:Biopsy, Needle; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008068:Lipomatosis / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D035583:Rare Diseases