Caravaglio Joseph V, Gupta Rema, Weinstein David
Department of Internal Medicine, University of Central Florida College of Medicine, Orlando Florida.
Dermatol Online J. 2017 Mar 15;23(3):13030/qt7513d80h.
Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]. This disease isassociated with a variety of phenotypic traits includingcutaneous ossification, short stature, brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. However, owing to variable expressivity individualsmay present only with a subset of these symptoms [5,6]. The cutaneous ossification observed in patientswith AHO may be seen in infancy or early childhoodand is sometimes the earliest presenting symptom.Nonetheless, because clinical features of AHO canbe seen in the absence of metabolic derangements(i.e. normal serum calcium, phosphorus, and PTHlevels) an early diagnosis is often missed and delayedfor many years. Herein, we present a case of miliaryosteoma cutis of the face in a 68 year-old woman withphenotypic features of AHO and laboratory studiesconsistent with type 1a PHP.
皮肤骨瘤是一种以皮肤内形成骨组织为特征的病症。当皮肤和皮下组织出现这种异常骨化，且不存在潜在组织损伤或先前的皮肤病变时，被认为是原发性的。相反，继发性皮肤骨瘤是在先前存在皮肤病变、创伤或炎症过程的基础上发生皮肤骨化所致[1,2]。尽管原发性皮肤骨瘤罕见，但它与多种不同的遗传疾病有关。奥尔布赖特遗传性骨营养不良（AHO），是富勒·奥尔布赖特于1942年首次描述的一种常染色体显性代谢紊乱疾病，由GNAS1基因突变引起[3]。这种疾病与多种表型特征相关，包括皮肤骨化、身材矮小、短指畸形、肥胖和智力迟钝。应当指出，短指畸形是AHO最具特异性的特征[4]。然而，由于表达可变，个体可能仅表现出这些症状的一部分[5,6]。AHO患者中观察到的皮肤骨化可在婴儿期或儿童早期出现，有时是最早出现的症状。尽管如此，由于在没有代谢紊乱（即血清钙、磷和甲状旁腺激素水平正常）的情况下也可出现AHO的临床特征，早期诊断常常被漏诊并延误多年。在此，我们报告一例68岁女性面部粟粒性皮肤骨瘤病例，该患者具有AHO的表型特征且实验室检查结果与1a型PHP一致。
