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[Cutaneous osteoma and Albright's hereditary osteodystrophy].
Ann Dermatol Venereol 1994; 121(5):408-13AD

Abstract

Albright's hereditary osteodystrophy has been diagnosed in a 35-year-old woman who presented recurrent cutaneous ossifications of the auricular area. The patient exhibited other cutaneous ossifications, a short stature with obesity, round face, stocky hands and feet, radiological calcifications of the skull and of the hands, cataract, auditive impairment and dental abnormalities. Serum calcium, phosphorus and parathyroid hormone levels were normal. Urine excretion of phosphorus and cyclic adenosine monophosphate (cAMP) markedly increased after intravenous injection of parathyroid hormone, referring to pseudopseudohypoparathyroidism. Albright's hereditary osteodystrophy is associated either with pseudohypoparathyroidism type 1a characterized by parathyroid hormone and other hormones resistance or with pseudopseudohypoparathyroidism without hormone resistance. This two conditions are considered variants of the same defect of the stimulatory G protein of adenylate cyclase which is necessary for the action of parathyroid hormone, and other hormones to use cAMP as an intracellular second messenger. But Albright's hereditary osteodystrophy may be associated with other biochemical abnormalities, such as defect of catalytic activity of adenylate cyclase in pseudohypoparathyroidism type 1c. There is an important variability of the clinical, biochemical and genetical expression of pseudohypoparathyroidism and today classification is provisional.

Authors+Show Affiliations

Service de Dermatologie, Hôpital de l'Hôtel-Dieu, Lyon.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

7702269

Citation

Canillot, S, et al. "[Cutaneous Osteoma and Albright's Hereditary Osteodystrophy]." Annales De Dermatologie Et De Venereologie, vol. 121, no. 5, 1994, pp. 408-13.
Canillot S, Chouvet B, Besançon C, et al. [Cutaneous osteoma and Albright's hereditary osteodystrophy]. Ann Dermatol Venereol. 1994;121(5):408-13.
Canillot, S., Chouvet, B., Besançon, C., & Perrot, H. (1994). [Cutaneous osteoma and Albright's hereditary osteodystrophy]. Annales De Dermatologie Et De Venereologie, 121(5), pp. 408-13.
Canillot S, et al. [Cutaneous Osteoma and Albright's Hereditary Osteodystrophy]. Ann Dermatol Venereol. 1994;121(5):408-13. PubMed PMID: 7702269.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Cutaneous osteoma and Albright's hereditary osteodystrophy]. AU - Canillot,S, AU - Chouvet,B, AU - Besançon,C, AU - Perrot,H, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 408 EP - 13 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 121 IS - 5 N2 - Albright's hereditary osteodystrophy has been diagnosed in a 35-year-old woman who presented recurrent cutaneous ossifications of the auricular area. The patient exhibited other cutaneous ossifications, a short stature with obesity, round face, stocky hands and feet, radiological calcifications of the skull and of the hands, cataract, auditive impairment and dental abnormalities. Serum calcium, phosphorus and parathyroid hormone levels were normal. Urine excretion of phosphorus and cyclic adenosine monophosphate (cAMP) markedly increased after intravenous injection of parathyroid hormone, referring to pseudopseudohypoparathyroidism. Albright's hereditary osteodystrophy is associated either with pseudohypoparathyroidism type 1a characterized by parathyroid hormone and other hormones resistance or with pseudopseudohypoparathyroidism without hormone resistance. This two conditions are considered variants of the same defect of the stimulatory G protein of adenylate cyclase which is necessary for the action of parathyroid hormone, and other hormones to use cAMP as an intracellular second messenger. But Albright's hereditary osteodystrophy may be associated with other biochemical abnormalities, such as defect of catalytic activity of adenylate cyclase in pseudohypoparathyroidism type 1c. There is an important variability of the clinical, biochemical and genetical expression of pseudohypoparathyroidism and today classification is provisional. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/7702269/[Cutaneous_osteoma_and_Albright's_hereditary_osteodystrophy]_ L2 - http://www.diseaseinfosearch.org/result/300 DB - PRIME DP - Unbound Medicine ER -