Haramoto U, Kobayashi S, Ohmori K
Division of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan.
Am J Med Genet. 1995 Nov 6;59(2):164-7. doi: 10.1002/ajmg.1320590210.
We report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus-like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in Proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of Proteus syndrome.