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A case report of Albright hereditary osteodystrophy with pseudohypoparathyroidism
( Jongwook Oh ) , ( Si-hyung Lee ) , ( Kee Yang Chung )
UCI I410-ECN-0102-2018-500-004086224
This article is 4 pages or less.

Albright hereditary osteodystrophy(AHO) is a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications, brachydactyly, and osteoma cutis. Most patients have a deficient end-organ response to PTH or pseudohypoparathyroidism with hypocalcemia, hyperphosphatemia, and elevated levels of PTH. We report a clinical case of an 18-year-old female with several asymptomatic hard Subcutaneous masses located on scalp, forearm and hand. She was noted to have been born healthy with a familial history of mother showing similar lesion on scalp. Physical examination revealed a round face, shortened right 4th and 5th fingers. She presented with a 4x5 cm sized mass on her scalp, multiple various sized nodules on her left forearm, and a 0.5x0.5 cm sized nodule on her left hand. The laboratory studies showed hypocalcemia, hyperphosphatemia and an increased serum concentration of parathyroid hormone(PTH). In neuropsychological test, mild mental retardation was noted. Complete excision was performed on the scalp mass. At 8-month follow up, the patient was asymptomatic without recurrence, also showing excellent healing. Herein we present the first diagnosis in Korea in a 18-year-old girl who had the phenotypic feature of AHO with elevated levels of PTH. The cutaneous masses on the scalp were removed without recurrence nor other complications.

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