Li Yuan, Chen Xiaohong, Wang Bin, Liu Xiaoming, Hou Suchun
Department of Dermatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Int J Rheum Dis. 2023 May;26(5):968-972. doi: 10.1111/1756-185X.14562. Epub 2023 Jan 10.
Hypophosphatemic osteomalacia (HO) is an unusual metabolic disease characterized by low concentrations of serum phosphate levels, which leads to reduced mineralization of the bone matrix. Typically, HO consists of 4 common types: X-linked dominant hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), tumor-induced osteomalacia (TIO), and sporadic HO.
We herein report the case of a 48-year-old man who developed multiple joint and bone pain and muscle weakness over 5 months with a 23-year history of psoriasis. He was diagnosed with psoriatic arthritis by primary hospitals but was unresponsive to etanercept and adalimumab treatments. After referral to our hospital, the patient was diagnosed with HOs combined with psoriasis. The patient was treated with oral phosphate solution, calcium, and active vitamin D, and the symptoms of bone and joint pain and muscle weakness gradually relieved. Since TIO accounts for the majority of adult-onset HO, positron emission tomography - computed tomography or octreotide imaging examinations had been done yearly to locate any underlying tumor in our patient, with negative findings in the 4-year follow-up.
Diagnosis of HO remains a challenge to rheumatologists, and especially to dermatologists when accompanied by psoriasis. After excluding the inherited HO and with negative tumor, this report may be the first male case of sporadic HO combined with psoriasis.
低磷性骨软化症（HO）是一种罕见的代谢性疾病，其特征为血清磷酸盐水平降低，导致骨基质矿化减少。典型的HO包括4种常见类型：X连锁显性低磷血症（XLH）、常染色体显性低磷性佝偻病（ADHR）、肿瘤性骨软化症（TIO）和散发性HO。
我们在此报告一例48岁男性患者，其在5个月内出现多关节和骨疼痛以及肌肉无力，有23年银屑病病史。他被基层医院诊断为银屑病关节炎，但对依那西普和阿达木单抗治疗无反应。转诊至我院后，该患者被诊断为HO合并银屑病。患者接受口服磷酸盐溶液、钙剂和活性维生素D治疗，骨和关节疼痛以及肌肉无力症状逐渐缓解。由于TIO占成人发病HO的大多数，因此每年对我们的患者进行正电子发射断层扫描-计算机断层扫描或奥曲肽显像检查以定位任何潜在肿瘤，4年随访结果均为阴性。
HO的诊断对风湿病学家来说仍然是一项挑战，当伴有银屑病时对皮肤科医生尤其如此。在排除遗传性HO且肿瘤检查结果为阴性后，本报告可能是首例散发性HO合并银屑病的男性病例。
