Trüeb R M, Panizzon R G, Burg G
Department of Dermatology, University Hospital, Zurich, Switzerland.
Dermatology. 1993;186(3):205-9. doi: 10.1159/000247347.
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.
一名23岁女性出现皮下骨化，同时伴有身材矮小、体格粗壮、圆脸和短指畸形，提示为奥尔布赖特遗传性骨营养不良（AHO）。血清钙和磷水平正常。AHO指的是Ia型假性甲状旁腺功能减退症（PHP）和假假性甲状旁腺功能减退症（PPHP）综合征的表型，这两种疾病均被认为是与腺苷酸环化酶刺激性G蛋白α亚基缺陷相关的基因变异，而腺苷酸环化酶刺激性G蛋白α亚基是甲状旁腺激素及其他以环磷酸腺苷作为细胞内第二信使的激素发挥作用所必需的。PPHP与PHP的不同之处在于它不存在表现为低钙血症的甲状旁腺激素抵抗。PHP还可能伴有其他内分泌终末器官无反应性，如甲状腺功能减退和性腺功能减退。PHP和PPHP通常都表现出特征性的表型异常，其中皮下骨化可能是首发特征。本文概述了皮肤钙化和骨化的鉴别诊断。
