Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review.

ABSTRACT:

Background

Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder primarily characterized by digital clubbing, pachydermia, and periostitis. The rarity of this disease often leads to misdiagnosis or delayed diagnosis.

Methods

We describe the clinical and genetic findings of two pediatric PHO cases caused by HPGD variants and perform a systematic literature review of HPGD-related PHO cases.

Results

Both patients exhibited congenital digital clubbing and patent ductus arteriosus from birth. Radiographs revealed cortical bone thickening and a periosteal reaction. Patient 1 displayed gait abnormalities and delayed cranial suture closure, while Patient 2 had bilateral leg swelling. Whole exome sequencing identified a compound heterozygous variant (NM_000860

SUBMITTER: Li J 

PROVIDER: S-EPMC11948709 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature