UNLABELLED: We report a 7-year-old boy with the typical features of encephalocraniocutaneous lipomatosis (ECCL) including unilateral skin, eye, bone, and asymptomatic central nervous system involvement. The presenting sign were numerous ipsilateral odontomas which have been described in only two previous patients so far. We reviewed all 32 cases reported to date and focus on the dermatological hallmark of the condition, namely a fatty tissue naevus of the scalp for which the term naevus psiloliparus was recently coined. Sporadic occurrence, patchy type of organ involvement and roughly balanced sex ratio in ECCL are compatible with the concept of a lethal autosomal mutation only surviving in a mosaic state. CONCLUSION: In children presenting with a congenital smooth hairless lesion on the scalp, the diagnosis of naevus psiloliparus should be considered and other signs of encephalocraniocutaneous lipomatosis should be looked for.
UNLABELLED: We report a 7-year-old boy with the typical features of encephalocraniocutaneous lipomatosis (ECCL) including unilateral skin, eye, bone, and asymptomatic central nervous system involvement. The presenting sign were numerous ipsilateral odontomas which have been described in only two previous patients so far. We reviewed all 32 cases reported to date and focus on the dermatological hallmark of the condition, namely a fatty tissue naevus of the scalp for which the term naevus psiloliparus was recently coined. Sporadic occurrence, patchy type of organ involvement and roughly balanced sex ratio in ECCL are compatible with the concept of a lethal autosomal mutation only surviving in a mosaic state. CONCLUSION: In children presenting with a congenital smooth hairless lesion on the scalp, the diagnosis of naevus psiloliparus should be considered and other signs of encephalocraniocutaneous lipomatosis should be looked for.
Authors: Antonio A V Cruz; Tarciso Schirmbeck; João Monteiro Pina-Neto; Carolina A R Funayama Journal: Ophthalmic Plast Reconstr Surg Date: 2002-03 Impact factor: 1.746
Authors: Iftikhar Ahmed; Whitney D Tope; Terri L Young; Danielle M Miller; Kenneth E Bloom Journal: J Am Acad Dermatol Date: 2002-08 Impact factor: 11.527
Authors: Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno Journal: Mol Genet Genomic Med Date: 2019-03-19 Impact factor: 2.183