Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome?

American Journal of Medical Genetics
U HaramotoK Ohmori

Abstract

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.

References

Oct 1, 1986·American Journal of Medical Genetics·H R Wiedemann, G R Burgio
Mar 1, 1986·Human Genetics·R Happle
Oct 1, 1993·American Journal of Medical Genetics·M M Cohen
Sep 1, 1993·Developmental Biology·N M Le DouarinG F Couly
Apr 1, 1960·Journal of Neuropathology and Experimental Neurology·A ZETTNER, M G NETSKY

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Citations

Sep 17, 2004·American Journal of Medical Genetics. Part a·Joyce T TurnerLeslie G Biesecker
Apr 24, 2002·Yonsei Medical Journal·John A LintonChoong-San Oh
Mar 19, 2002·Ophthalmic Plastic and Reconstructive Surgery·Antonio A V CruzCarolina A R Funayama
Mar 9, 2002·Journal of Computer Assisted Tomography·Rainer KloeppelThomas Kahn

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