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Encephalocraniocutaneous Lipomatosis: Clinical Spectrum of Systemic Involvement
Author(s) -
Sofiatti Alexandre,
Cirto Ana Gabriela,
Ar Marcelo,
Romiti Ricardo,
Santi Claudia,
Leite Claudia,
Sotto Mirian
Publication year - 2006
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2006.00165.x
Subject(s) - medicine , lipomatosis , dermatology , pathology
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.