A Case Report of Primary Hypertrophic Osteoarthropathy
ZHAO Zongxuan,
SUN Liying,
CHEN Jia,
WANG Yanyuan,
CHEN Dan,
ZUO Qingyao,
DENG Wei,
TIAN Wen
Affiliations
ZHAO Zongxuan
Department of Hand Surgery, Clinical and Research Center for Congenital Hand Deformities and Rare Diseases, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
SUN Liying
Department of Hand Surgery, Clinical and Research Center for Congenital Hand Deformities and Rare Diseases, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
CHEN Jia
Department of Endocrinology, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
WANG Yanyuan
Department of Endocrinology, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
CHEN Dan
Department of Hand Surgery, Clinical and Research Center for Congenital Hand Deformities and Rare Diseases, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
ZUO Qingyao
Department of Endocrinology, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
DENG Wei
Department of Endocrinology, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
TIAN Wen
Department of Hand Surgery, Clinical and Research Center for Congenital Hand Deformities and Rare Diseases, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China
Primary hypertrophic osteoarthropathy(PHO) is a rare disease also known as pachydermoperiostosis. We reported a painless case whose diagnosis was confirmed by genetic test. A 24-year-old male presented a series of symptoms that first began at 14. He suffered from progressive clubbed-fingers accompanied by swelling of the wrist and ankle joints. Facial skin concentric thickening and alar nose broadening appeared simultaneously and increased progressively. He was also prone to acne and hyperhidrosis. X-rays showed thickening of the metacarpal and phalangeal bones, as well as symmetrical periosteal ossification of both the tibia and fibula. Clinical diagnosis of PHO is difficult because of the variable features. With acromegaly excluded, the diagnosis was confirmed by a genetic test. Whole exome sequencing revealed a heterozygous SLCO2A1 c.611C > T(p.Ser204Lue) and SLCO2A1 c.1602C > A(p.Asn534Lys) mutation from each parent. It suggests that primary hypertrophic osteoarthropathy should be considered for young limb hypertrophic patients especially when periosteal thickening signs were showed in X-ray. A confirmatory diagnosis can be made through the genetic test.
