McCune–Albright syndrome presenting with FGF-23-mediated hypophosphatemic rickets–osteomalacia

CASE HISTORY A 19-year-old male with multiple fragility fractures from 4 years of age and worsening facial asymmetry [Figure 1A] presented with café-au-lait macule on the right upper back [Figure 1B], kyphoscoliosis, limb deformities, dolichocephaly, genu valgum, and pigeon chest. There was no history of precocious puberty or acromegaly. Investigations revealed serum phosphate of 2.3 mg/dL (reference range 2.5–4.5 mg/dL), calcium 9.1 mg/dL (reference range 8.5–10.2 mg/dL), 25(OH)D 35 ng/mL, and iPTH 60 pg/mL (reference range 10–65 pg/mL). The TMP/GFR was low at 1.5 mg/dL (reference range 3–5 mg/dL), and ALP was elevated at 600 IU/L (reference range 40–129 IU/L). X-rays showed ground glass appearance, suggesting polyostotic fibrous dysplasia with femur deformity and previous fracture implants [Figure 1C and D]. He was diagnosed with McCune–Albright syndrome with FGF-23-mediated hypophosphatemic rickets–osteomalacia and treated with oral phosphate, calcium, and active vitamin D. At 1-year follow-up, he had no new fractures, and his biochemical profile normalized.Figure 1: (A): Clinical image showing facial asymmetry (B) café-au-lait macule in right upper back (C, D): X-rays pelvis and appendicular skeleton Antero-Posterior View revealed ground glass appearance suggestive of polyostotic fibrous dysplasia with deformity of the femur and previous fracture implants.Author contribution VJ was involved in manuscript writing and editing. LD helped in proof reading. SKB cared for the patient, and he assisted in the preparation and editing of the final manuscript. Financial support and sponsorship Nil. Conflicts of interest There are no conflict of interest.