Dermatol. praxi. 2009;3(2):78-82

Albright hereditary osteodystrophy

MUDr. Denisa Kacerovská, Ph.D, doc. MUDr. Dmitry V. Kazakov, Ph.D, Mgr. Jana Němcová, prof. MUDr. Michal Michal

Bioptická laboratoř s. r. o., Plzeň

Osteoma cutis is the formation of normal bone in the skin. Primary osteoma cutis occurs de novo, whereas the secondary type develops

in association with the underlying tumorous, inflammatory, or traumatic conditions. Primary osteomas may also be associated with

Albright´s hereditary osteodystrophy (AHO), which includes hypoparathyroidismus (PHP) type Ia and Ic, and pseudopseudohypoparathyroidismus

(PPHP). This review summarizes pathogenesis of PHP and emphasizes on clinical and histopathological findings in AHO.

In addition, a case of osteoma cutis involving in a 4-year-old boy and his mother who had cutaneous, biochemical and histopathological

features of PHP type Ia and PPHP is described. In this family, a novel mutation in the GNAS1 gene was also identified.

Keywords: Albright hereditary osteodystrophy, multiple osteoma cutis, calcification, GNAS1 gene.

Published: April 1, 2009  Show citation