Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature.
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.


CONCLUSIONS
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.
Hauber
Kristina
K
Department of Dermatology, University of Würzburg, Josef-Schneider-Strasse 2, 97080 Würzburg, Germany.
Warmuth-Metz
Monika
M
Rose
Christian
C
Bröcker
Eva-Bettina
EB
Hamm
Henning
H
D001859:Bone Neoplasms / Q000175:diagnosis; D016543:Central Nervous System Neoplasms / Q000175:diagnosis; D002648:Child; D005134:Eye Neoplasms / Q000175:diagnosis*; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D009810:Odontoma / Q000175:diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis*; D014071:Tooth Abnormalities / Q000175:diagnosis