Cutaneous ossification in Albright's hereditary osteodystrophy

Détails

ID Serval
serval:BIB_B2A047B38916
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Cutaneous ossification in Albright's hereditary osteodystrophy
Périodique
Dermatology
Auteur(s)
Trueb  R. M., Panizzon  R. G., Burg  G.
ISSN
1018-8665 (Print)
Statut éditorial
Publié
Date de publication
1993
Volume
186
Numéro
3
Pages
205-9
Notes
Case Reports
Journal Article
Résumé
A 23-year-old woman presented with subcutaneous ossification, which together with short stature, stocky physique, round face and brachydactyly suggested Albright's hereditary osteodystrophy (AHO). Serum calcium and phosphorus levels were normal. AHO refers to the phenotype of the syndromes of pseudo-hypoparathyroidism (PHP) type Ia and pseudopseudohypoparathyroidism (PPHP), both considered genetically related variants with a defect of the alpha subunit of the stimulatory G protein of adenylate cyclase, necessary for the action of parathyroid and other hormones using cyclic AMP as an intracellular second messenger. PPHP differs from PHP in that it lacks parathyroid hormone resistance manifesting itself as hypocalcemia. Other endocrine end organ unresponsiveness, e.g. hypothyroidism and hypogonadism, may also be found with PHP. Both PHP and PPHP usually exhibit characteristic phenotypic abnormalities, of which subcutaneous ossification may be a presenting feature. The differential diagnosis of cutaneous calcification and ossification is outlined.
Mots-clé
Adult Calcinosis/etiology Calcium/blood Female Humans Ossification, Heterotopic/*etiology Phosphorus/blood Pseudohypoparathyroidism/blood/*complications/genetics Pseudopseudohypoparathyroidism/blood/complications Skin Diseases/*etiology
Pubmed
Web of science
Création de la notice
25/01/2008 16:55
Dernière modification de la notice
20/08/2019 15:21
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