J Rheum Dis.  2012 Dec;19(6):344-347. 10.4078/jrd.2012.19.6.344.

A Case of Pediatric-onset Mixed Connective Tissue Disease Presenting Raynaud's Phenomenon Affecting Tongue, Hands, and Feet

• Jung SM
• Yoo JT
• Kim YH
• Seo YN
• Lee NY
• Lee SG
• Park SH
• Park YE
• Baek SH
• Kim GT
• Kim SI
• Lee JW

• KMID: 2223061
• DOI: http://doi.org/10.4078/jrd.2012.19.6.344

Abstract

Mixed connective tissue disease (MCTD) was first described by Sharp and coworkers in 1972, characterized by symptoms of Raynaud's phenomenon or swollen hands, overlapping clinical features of systemic lupus erythematosus, systemic sclerosis, or polymyositis/dermatomyositis, and the presence of anti-U1 RNP antibody. MCTD is rare in children and constitutes 0.3~0.6% of all rheumatologic patients in pediatric rheumatology database of the United States. Here, we report the first Korean case of a 10-year-old female patient with MCTD, presenting Raynaud's phenomenon in the hands, feet, and tongue.

Keyword

Pediatric-onset mixed connective tissue disease; Raynaud's phenomenon; Antibody to ribonucleoprotein

MeSH Terms

Child
Female
Foot
Hand
Humans
Lupus Erythematosus, Systemic
Mixed Connective Tissue Disease
Rheumatology
Scleroderma, Systemic
Tongue
United States

Figure

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  Figure 1 Raynaud's phenomenon in the fingertips. Demarcated digital pallor and cyanosis developed after exposure to cold.

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  Figure 2 Raynaud's phenomenon in both soles. Demarcated pallor developed after exposure to cold.

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  Figure 3 Raynaud's phenomenon in the tongue. The photographs show color changes from red (A) to pallor and (B) after cold application.

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  Figure 4 Magnetic Resonance Imaging (MRI) images of the right Foot. MRI shows focal low T1 signal intensity (A) and high T2 signal intensity (B) at the head of the second and fifth metatarsal bone, consistent with bone marrow edema. Scanty effusion is seen at the second and fifth metatarsophalangeal joint.

Reference

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