Abstract
BackgroundAs one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy or arthropathy progressive pseudorheumatoid of childhood. PPD is a very rare disease, especially in China, and has an estimated prevalence of 1/1000000 due to lacking definite prevalence survey. It is an autosomal recessive disorder caused by gene mutation of Wntl inducible signaling pathway protein 3 (WISP3). Its basic pathological change is persistent degeneration and loss of articular cartilage in multiple joints. Its clinical appearances include bone enlargement, platyspondyly, irregular endplate, secondary osteoarthritis, extensive osteoporosis, joint rigidity and function loss. Clinical diagnosis of PPD is made based on clinical appearance and imaging examinations, whereas its definite diagnosis depends on gene sequencing. PPD has no severe effect on life span, but causes high disability rate and very poor prognosis. There are only case reports with limited information in China.Case presentationOne female patient was diagnosed as PPD and secondary osteoarthritis. She had typical clinical appearance and imaging examinations, and received individualized therapeutic regimens. She had a gene mutation (c.72delT, p.T24TfsX4) of WISP3. This gene mutation has not been reported by previous literatures and included in Single Nucleotide Polymorphism Database.ConclusionsAs the first time, this paper reported a patient with PPD caused by new-found gene mutation (c.72delT, p.T24TfsX4) of WISP3.
Highlights
As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is known as spondyloepiphyseal dysplasia tarda with progressive arthropathy or arthropathy progressive pseudorheumatoid of childhood
As the first time, this paper reported a patient with PPD caused by new-found gene mutation (c.72delT, p.T24TfsX4) of Wntl inducible signaling pathway protein 3 (WISP3)
As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is known as spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or arthropathy progressive pseudorheumatoid of childhood (APPRC) [1]. It is an autosomal recessive disorder caused by gene mutation of Wntl inducible signaling pathway protein 3 (WISP3) [2]
Summary
As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is known as spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or arthropathy progressive pseudorheumatoid of childhood (APPRC) [1]. Bone enlargement appeared with pain, and ankle activity was severely limited when she was 15 years old. In recent 3 years, she had further aggravated swelling and pain of bilateral knee and elbow joints, and difficulties to walk surefootedly, straighten limbs and lift weights. She had no fever, rash, nausea, vomiting, morning stiffness, hair loss, dry mouth, dry eye, oral ulcer and Raynaud’s phenomenon. There were bone enlargement, pain with press and limited activities in bilateral interphalangeal, wrist, elbow and knee joints. Plain film of knee joints: joint space narrowing and rough articular surface (Fig. 2).
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