Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.

ABSTRACT:

Introduction

Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mutations in the Wnt1-inducible signaling pathway protein 3 gene. PPRD is considered a noninflammatory disease, and involvement of the sacroiliac joint and hip arthritis have not been reported previously.

Patient concerns

We report a case of PPRD in an 11-year-old boy, who presented with bilateral pain and swelling in the knees, elbows, and ankles, and bilateral pain without swelling in the shoulders, wrists, knuckles, and proximal and distal interphalangeal joints for the past 5 years. He had been misdiagnosed with juvenile idiopathic arthritis for more than 6 years.

Diagnosis

The correct PPRD diagnosis was made using whole-exome sequencing for Wnt1-indu

SUBMITTER: Wang W 

PROVIDER: S-EPMC10328645 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature