Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany.
Clin Exp Dermatol. 2012 Aug;37(6):646-8. doi: 10.1111/j.1365-2230.2011.04292.x. Epub 2012 Feb 2.
Albright hereditary osteodystrophy (AHO) is a syndrome caused by inactivating mutations in the GNAS (guanine nucleotide-binding protein, alpha-stimulating) gene. Patients with AHO have short stature, obesity, brachydactyly and subcutaneous calcifications. AHO can be associated with pseudohypoparathyroidism type IA (PHP-IA) with upregulation of parathyroid hormone, whereas in pseudo-pseudohypoparathyroidism (PPHP), an endocrinopathy is not present. We report the case of a 5-month-old male infant who presented with slowly progressive linear atrophic skin lesions. The histological findings showed evidence of dermal hypoplasia. The child's father had PHP-IA. Four months after presentation, the infant developed calcifications within the pre-existent atrophic lesions. No alterations in calcium metabolism were noted. Analysis of the GNAS gene identified a short duplication leading to a frameshift mutation. We conclude that linear atrophic skin lesions may be an early sign of imminent cutaneous calcifications in AHO.
阿利布莱特遗传性骨营养不良症（AHO）是由 GNAS（鸟嘌呤核苷酸结合蛋白，α-刺激）基因突变引起的综合征。患有 AHO 的患者身材矮小、肥胖、短指畸形和皮下钙化。AHO 可与假性甲状旁腺功能减退症 1 型（PHP-1A）相关，表现为甲状旁腺激素上调，而假性假性甲状旁腺功能减退症（PPHP）则不存在内分泌紊乱。我们报告了一例 5 个月大的男性婴儿，其表现为进行性缓慢的线性萎缩性皮肤病变。组织学检查结果显示真皮发育不全的证据。患儿的父亲患有 PHP-1A。就诊后 4 个月，婴儿在原有的萎缩性病变内出现钙化。未发现钙代谢的改变。GNAS 基因突变分析发现一个短的重复导致移码突变。我们得出结论，线性萎缩性皮肤病变可能是 AHO 即将发生皮肤钙化的早期征象。
