A girl with alopecia and skeletal deformities: Satoyoshi syndrome with review of literature

Abstract

Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities. It is a multisystem disorder of suspected autoimmune etiology. We report a 12-year-old-girl presented with loss of hair from the scalp for 7 years. She had a history of muscle spasms of lower limbs, which used to last for a few minutes; the attacks of spasms were intermittent in nature and involved thigh and calf muscles. She had genu valgum deformity of the right knee and knock-knee gait. Central nervous system examination showed no abnormality. Her laboratory investigations including routine screening and endocrine evaluations were within normal limits, except for microcytic hypochromic anemia. Ultrasonography (USG) abdomen revealed relatively small uterus. X-ray of the right knee showed deformed shape of the epiphysis and dense metaphyseal band of bones. Histopathological examination (HPE) scalp showed noncicatricial alopecia with the absence of functional follicles and dermal lymphocytic infiltration. On the basis of clinical investigations, blood investigations, USG, and radiological findings, diagnosis of SS was made. SS is a sporadic disease with the mean age of onset of the disease being 10 years, but a few adult cases have also been reported. The usual initial symptoms are alopecia and painful muscle spasms. Treatment with oral corticosteroids has shown good response. The case is being presented to create awareness not only among dermatologists but also among pediatricians and orthopedicians about the multisystem involvement and long-term-associated complications and to emphasize the need of early diagnosis and treatment.