Yonsei Med J.  2016 Sep;57(5):1290-1293. 10.3349/ymj.2016.57.5.1290.

Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

• Chung SW
• Kang EH
• Lee YJ
• Ha YJ
• Song YW

• KMID: 2374179
• DOI: http://doi.org/10.3349/ymj.2016.57.5.1290

Abstract

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.

Keyword

Spondyloepiphyseal dysplasia tarda; platyspondyly; progressive arthropathy

MeSH Terms

Adult
Arthralgia/complications
Back Pain/complications
Female
Humans
Male
Osteochondrodysplasias/complications/*diagnostic imaging/pathology/therapy
*Pedigree
Republic of Korea
Young Adult

Figure

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  Fig. 1 Lateral view of the thoracic and lumbar spine. (A) Case 1, (B) case 2, (C) case 3. All radiographs revealed to characteristic platyspondyly.

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  Fig. 2 Osteoarthritis of involved joints including shoulder (A), knee (B) with extensive osteophytes and loose bodies. Widening of the epiphyses of the phalanges and periarticular osteoporosis (white arrow, C).

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  Fig. 3 The pedigree of the family. Black symbols denote affected subjects. The arrow indicates the current case (49-year-old man). All open boxes represent healthy males and open circles represent healthy females. Boxes or circles with a diagonal line indicate that the person has already died.

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