Pseudopseudohypoparathyroidism with fibrous dysplasia.

Pseudopseudohypoparathyroidism and pseudohypoparathyroidism have been thought to represent variants of the same disease process, Albright hereditary osteodystrophy. A 31-year-old woman with the characteristic features of pseudopseudohypoparathyroidism, such as shortened metacarpals and metatarsals, round facies, and normal serum calcium values, was studied. Underdeveloped metacarpal and metatarsal heads produced an important diagnostic sign, Albright dimpling sign, which dermatologists can use to make the correct diagnosis. The presence of this sign, together with roentgenographic evidence, will usually exclude other diagnostic possibilities. Our patient had a normal response to parathyroid hormone infusion, including increased urinary adenosine 3',5' cyclic monophosphate excretion. Radiological, light microscopic, and electron microscopic studies of the mandible showed fibrous dysplasia, a disease commonly reported to be present with hyperparathyroidism, but, to our knowledge, never before reported in association with any variant of hypoparathyroidism.