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Cutaneous and Superficial Soft Tissue Lesions Associated With Albright Hereditary Osteodystrophy: Clinicopathological and Molecular Genetic Study of 4 Cases, Including a Novel Mutation of the GNAS Gene

Kacerovska, Denisa MD, PhD*; Nemcova, Jana MSc*; Pomahacova, Renata MD†; Michal, Michal MD*‡; Kazakov, Dmitry V MD, PhD*

American Journal of Dermatopathology: October 2008 - Volume 30 - Issue 5 - pp 417-424
doi: 10.1097/DAD.0b013e318180ec0e
Original Article

Albright hereditary osteodystrophy is a rare syndrome, in which cutaneous and superficial soft tissue lesions traditionally include osteomas and calcifications. We report 4 patients from 2 families affected with Albright hereditary osteodystrophy and demonstrate that the spectrum of these cutaneous and soft tissue lesions is broader than is usually defined in the literature. In addition to osteomas in the dermis and subcutis, including so-called plaque-like osteoma, we identified the following lesions: calcifying aponeurotic fibroma-like lesion, calcinosis circumscripta-like lesion, and unusual nevi with osteoid and/or peculiar intranuclear pseudoinclusions. One osteoma and the calcifying aponeurotic fibroma-like lesion were analyzed by HUMARA and proved to be clonal. In a family, a novel mutation in the GNAS gene was also identified.

From the *Sikl's Department of Pathology; †Department of Pediatrics, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic; and ‡Bioptical Laboratory, Pilsen, Czech Republic.

Reprints: Dmitry V. Kazakov, MD, PhD, Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Alej Svobody 80, 304 60 Pilsen, Czech Republic (e-mail: kazakov@medima.cz).

© 2008 Lippincott Williams & Wilkins, Inc.