1.A Case Report of Primary Hypertrophic Osteoarthropathy
Zongxuan ZHAO ; Liying SUN ; Jia CHEN ; Yanyuan WANG ; Dan CHEN ; Qingyao ZUO ; Wei DENG ; Wen TIAN
JOURNAL OF RARE DISEASES 2024;3(2):241-245
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
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