title: Atypical presentation of scleroderma in infancy.
abstract: We present a case of a female child who had developed progressive skin tightening of whole body, sclerodactyly, and severe contracture of all joints with restricted opening of mouth with disease onset at 6 weeks of life. The child also had anemia, failure to thrive, recurrent diarrhea, and ascites. Skin biopsy revealed characteristic histopathological features suggestive of scleroderma. Echocardiography revealed thrombus in the right atrium extending to inferior vena cava. Serological markers (antinuclear antibody, antiscl 70, anti-double-stranded DNA, anticentromere antibody) were negative. To our knowledge, this case of scleroderma with disease onset at 6 weeks of life could possibly be among youngest cases reported in the literature. Also, thrombosis in inferior vena cava in a child with scleroderma is being reported for the first time.
authors.affiliation: KIST Medical College, Lalitpur, Nepal. mishranavin@hotmail.com
authors.forename: Navin
authors.initials: N
authors.lastname: Mishra
authors.forename: Devendra
authors.initials: D
authors.lastname: Shrestha
authors.forename: Rakesh Babu
authors.initials: RB
authors.lastname: Poudyal
authors.forename: K C
authors.initials: KC
authors.lastname: Shiva Raj
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D012595:Scleroderma, Systemic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D013927:Thrombosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography; D014682:Vena Cava, Inferior / Q000000981:diagnostic imaging / Q000473:pathology*