PReS-FINAL-2257: Pediatric rheumatology in a rare disease working group: examples of diagnoses

Results Case 1: A 14 year old male presented with painless swelling of PIP joints II-V on both hands which had been consistently present for over one year. The patient was seen in a joint session (clinical genetics, rheumatology service), and the diagnosis of pachydermodactyly established, sparing the patient further diagnostic interventions and unnecessary treatments. Case 2: A 6 year old boy presented initially at 3 years of age with bilateral coxitis. One month later, significant radiological changes in both hips (including the acetabulum) were noted, with relatively minor physical complaints. He was initially diagnosed with Legg-Calvé-Perthes Disease by an orthopedic surgeon. Through our clinic, urine glycosaminoglycan, enzymatic and genetic testing confirmed the diagnosis of mucopolysaccharidosis II (Hunter Disease). In addition to the initiation of enzyme replacement therapy, the diagnosis allows for planning of specialized care, follow up and intervention with regard to the patient’s progressive joint disease. Case 3: An 8 year old girl had been seen by a pediatric neurologist and orthopedic surgeon because of symmetrical painless contractures of her hips, knees, ankles and the small joints of her feet, which were increasingly affecting her everyday activities. She was referred to our clinical geneticist because of suspicion of a lysosomal storage disease. Upon examination the patient had scleroderma-like lesions symmetrically affecting both lower limbs. Findings on laboratory, imaging, and histopathological examination led to the tentative diagnosis of congenital fascial dystrophy, or “Stiff-skin Syndrome”. An analysis of the Fibrillin-1 (FBN1) gene, recently found to be mutated in several such patients, found no alterations. We are closely following the patient, and additional extensive genetic analysis will hopefully be initiated in the near future.