Introduction:
Stiff skin syndrome is a rare, scleroderma like disease with unknown ethiology. Stiff endurations on skin, mild hypertrichosis and decreased joint mobility are features of the disease.
Material and methods:
Case presentation:
Eleven months old girl was consulted with sparse hair and hypertrichosis on different parts of the body. She was evaluated for recurrent urinary tract infections and found to have right ectopic kidney and grade 3 VUR, with a 37% uptake of right and 63% uptake of left kidney on DMSA. She was given nitrofurantoin prophylaxis, with no consanguinity of parents. Her father had type 2 DM and cousins had ectopic kidney.
On physical examination, weight and height were at 25th percentile, ther were sclerotic hairless 5 cm2 areas from the middle of head to frontal region. On upper right part of lip 1 cm2, on proximal of right upper extremity 10 cm2 and proximal of lower extremity 20 cm2 areas of yellow hypertrichosis were observed. Joints range of motion were in normal limits.
Routine lab tests were normal without any pathology in renal and hepatic function tests. Ultrasonography showed right ectopic kidney. Nitrofurantoin prophylaxis was continued and voiding cystourethrography planned for six months later. The patient is on follow up for possible restriction in joint mobility in the future.
Results:
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Conclusions:
Discussion:
There is still not an effective treatment of the condition. Exercise and rehabilitation are important for increasing quality of life of these patients. Immunosuppresants, corticosteroids, pseuralenes, penicillamin may be used to retard disease progression, but usually cannot provide clinical remission.
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