Fibrous dysplasia & McCune-Albright syndrome: An experience from a tertiary care centre in north India.

Background & objectives Fibrous dysplasia (FD) is a rare metabolic bone disease and information available from India is limited to only anecdotal case reports. We describe the clinical profile and therapeutic outcome of 25 patients with FD observed over a period of 14 yr in a tertiary care centre from north India. Methods In this retrospective study patients (n = 25) with diagnosis of fibrous dysplasia based on either classical radiological features and/or histological evidence on bone biopsy, were analyzed. Associated endocrinopathies if any, were evaluated. The diagnosis of McCune Albright syndrome (MAS) was considered when fibrous dysplasia was accompanied by either café-au-lait macules and/or endocrinopathies. The clinical presentation, biochemical parameters and imaging were analysed. Seven patients received bisphosphonate therapy. The final outcome and side effects were noted. Results Age of the patients ranged from 7 to 48 yr (mean ± SD, 24.2 ± 11.4 yr) with a lag time between onset of symptoms and presentation ranging from 1 to 20 yr (mean ± SD, 6.6 ± 6.2 yr). The mean duration of follow up was 3.5 ± 2.1 yr. Eighteen (72%) patients had polyostotic disease while the remaining had monostotic FD. Eight patients had endocrinopathies: five had acromegaly, one each had gonadotropin independent precocious puberty (GIPP), hyperthyroidism and hypophosphatemic rickets. One child with GIPP later developed hyperthyroidism. McCune Albright syndrome was observed in 10 (40%) patients. A majority of the patients underwent various minor or major surgical procedures and seven patients received bisphosphonates for recurrent pathological fractures. Bone pain was reduced in all bisphosphonate treated patients with a decrease in subsequent fractures. Interpretation & conclusions This series of FD patients from north India shows the varying presentations of this rare disease. Medical treatment with bisphosphonates appears to be potentially rewarding.

Hemihipertrofia corporal y displasia ósea fibrosa: coexistencias de mosaicismos

Se describe un individuo con displasia fibrosa poliostótica sin alteraciones de pigmentación cutánea ni hiperfunción hormonal y una hemihipertrofia corporal completa ipsilateral. Los focos de displasia fibrosa en el miembro superior derecho fueron descubiertos con radiografía corporal con 99Tcm. La biopsia ósea de un área afectada en cúbito derecho mostró cambios histopatológicos carcaterísticos de reemplazo de tejido óseo normal por colágeno tipo III. Es poco usual la presentación de displasia fibrosa poliostótica sin las otras manifestaciones del síndrome de McCune-Albright. Según nuestro conocimiento, aún no se ha reportado en la literatura médica la coexistencia de displasia fibrosa poliostótica con hemihipertrofia corporal completa ipsilateral. Se discute la ocurrencia de dos patologías de carácter esporádico