偽性副甲状腺機能低下症の1例—主に皮膚骨腫について

PSEUDOHYPOPARATHYROIDISM:MAINLY ON OSTEOMA CUTIS

　偽性副甲状腺機能低下症（pseudohypoparathyroidism，以下PHと略す）はAlbrightら^1）により独立疾患として命名されたもので，慢性テタニー，血清カルシウム（以下血清Caと略す）値の低下，血清無機燐（以下血清Pと略す）値の上昇などの特発性副甲状腺機能低下症（idiopathichypoparathyroidism，以下IHと略す）の症状に加えて，短躯幹，短指，円形顔貌，皮下組織の石灰化（皮膚骨腫）などの特徴的臨床症状を示すきわめてまれな疾患であり，欧米においては約100例^2），本邦においては折茂^3）によると14例の報告があるにすぎない．PHは今まで内科医による報告がほとんどであり，石灰化についての詳しい記載は見当らない．われわれは皮膚骨腫を主訴として皮膚科を受診し，その後の検索によりPHと判明した1例を経験した．以下に主にその皮膚骨腫などについて報告する．

A 32-year-old man with this disease was reported. Many, variously sized primary osteomas appeared over the entire body surFace at his birth and in his childhood. At the age of 27, he was diagnosed as having pseudohypoparathyroidism because of the symptoms of chronic tetany, pain, convulsion and numbness. Criteria for the diagnosis of this disease was based on shortness of the fingers and trunk, round face, slow reactivity to the exogeneous parathyroid hormone, existence of the parathyroid glands, and ostcoma cutis, besides the cirteria for the essential hypoparathyroidism.

This case seems to be a typical one satisfying almost all the criteria.

Relationships between this disease and the so-called primary osteoma cutis reported by dermatologists were discussed.