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Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances

Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances. Laboratory: normocalcemia ↑serum parathyroid hormone ↑ thyroid-stimulating hormone ↑ human calcitonin. GNAS gene. Mutation E268X in GNAS gene. ?. Plaque-like osteoma Albright hereditary osteodystrophy.

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Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances

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  1. Case 8 Boy, 4yo Multiple cutaneous and subcutaneous hard resistances

  2. Laboratory: normocalcemia ↑serum parathyroid hormone ↑ thyroid-stimulating hormone ↑ human calcitonin

  3. GNAS gene Mutation E268X in GNAS gene

  4. ?

  5. Plaque-like osteoma Albright hereditary osteodystrophy

  6. ALBRIGHT´S HEREDITARY OSTEODYSTROPHY • Pseudohypoparathyroidism (PHP) types: Ia, Ib, Ic and II • AHO: PHP Ia PHP Ic Pseudopseudohypoparathyroidism (PPHP)

  7. Mother 25 y.Son 4y. Pseudopseudohypoparathyroidism Pseudohypoparathyroidism Ia Biochemistry: Normal↑: PTH, TSH, CT, PO43- ↓: fT4, GT normo: Ca2+ GNAS mutation Exon 10, E268X (c.802G>T) Exon 10, E268X (c.802G>T)

  8. 1995 calcifying aponeurotic fibroma-like lesion (mother)

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