1/4. osteoma cutis as a presenting sign of pseudohypoparathyroidism.Four unrelated children with osteoma cutis and Albright hereditary osteodystrophy (pseudohypoparathyroidism and pseudopseudohypoparathyroidism) are described. All four patients were normocalcemic when they were first seen with cutaneous ossification. A diagnosis of Albright hereditary osteodystrophy was established on the basis of associated somatic features, radiographic abnormalities, and family history. Progression to pseudohypoparathyroidism was documented in two children who developed hypocalcemia at 2 and 3 years of age, respectively. Early recognition of the skin manifestations of this syndrome and careful follow-up are important to prevent the deleterious effects of hypocalcemia. osteoma cutis is a common sign of Albright hereditary osteodystrophy in infancy and childhood, and its significance should not be overlooked, even in the normocalcemic patient.- - - - - - - - - - ranking = 1keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
2/4. Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.The syndrome of Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) is clinically and genetically heterogeneous. Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide-binding protein that stimulates adenylate cyclase. However, patients without hormone resistance but with AHO and Gs deficiency were described (PPHP), as well as patients with multiple hormone resistance but without AHO or Gs deficiency. In a few patients with deficient Gs activity, hypothyroidism rather than hypocalcemia was the initial presentation of the disorder. We describe here a new variant of the syndrome, affecting 5 individuals in a 3 generation family with AHO, normal Gs activity and hypothyroidism. In the first 2 generations, mild features of AHO were present. The 2 sibs in the third generation had severe manifestations of AHO, including mild mental retardation as well as hypothyroidism. diagnosis of congenital osteoma cutis at birth of the proband led to the diagnosis of the family. Elucidation of the molecular defect will shed light on the relationship between hormone resistance and AHO, as well as on the physiological mechanism of hormonal signal transduction.- - - - - - - - - - ranking = 0.28571428571429keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
3/4. osteoma cutis in pseudohypoparathyroidism.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 inflammatory, tumorous or traumatic conditions. Primary osteoma cutis is also associated with Albright's hereditary osteodystrophy (AHO), which can include hypocalcaemic-type pseudohypoparathyroidism (also known as pseudohypoparathyroidism type Ia) or normocalcaemic-type pseudohypoparathyroidism (also known as pseudopseudohypoparathyroidism). We describe a case of osteoma cutis in a 7-year-old boy who had cutaneous, biochemical and phenotypic features of pseudohypoparathyroidism type Ia and AHO.- - - - - - - - - - ranking = 1.2857142857143keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
4/4. osteoma cutis associated with disordered ossification of the clavicle. A case report.Congenital multiple osteomas of the skin associated with disordered ossification of the clavicle occurred in a four-year-old boy. There were no clinical and laboratory findings of pseudohypoparathyroidism, pseudopseudohypoparathyroidism, or fibrodysplasia ossificans progressiva in this case. The clavicular bony mass was excised in segments. Samples of the cutaneous osteomas were removed for histologic study. On microscopic examination, the specimen from the clavicle consisted of trabecular bone in hyaline cartilage, resembling enchondral ossification, but the specimen from the osteoma cutis revealed a mature membraneous bone without cartilage.- - - - - - - - - - ranking = 0.28571428571429keywords = pseudohypoparathyroidism (Clic here for more details about this article) |