Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement.
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.
Sofiatti
Alexandre
A
Department of Dermatology, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Brazil.
Cirto
Ana Gabriela
AG
Arnone
Marcelo
M
Romiti
Ricardo
R
Santi
Claudia
C
Leite
Claudia
C
Sotto
Mirian
M
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