OBJECTIVE: To describe the familial occurrence of this association for the first time.
CASE REPORTS: Two siblings with
psoriasis associated with
pseudohypoparathyroidism were presented. The first patient was a 24-year-old white male with disseminated erythrodermic pustular
psoriasis that began 2 months before admission. He had had a history of
mental retardation, recurrent
otitis,
seizures and
arthralgia from the age of 11 years onwards. He presented the characteristic phenotype of Albright osteodystrophy: short stature,
obesity, round
facies, broad forehead, short neck and
brachydactylia. He adopted a position of flexed limbs and showed proximal
muscle weakness and a positive Trousseau sign. He had clinical signs of
hypocalcemia (0.69 mmol/l ionized
calcium and 3.2 mg/dl total
calcium),
hyperphosphatemia (6.6 mg/dl), hypomagnesemia (1.0 mEq/l),
hypoalbuminemia (3.1 g/dl), normal serum intact PTH levels (45.1 pg/ml),
primary hypothyroidism (13.2 mU/ml TSH, and 4.7 mg/dl total T(4)), hypergonadotrophic
hypogonadism (116.0 ng/ml LH, 13.2 mU/ml FSH and 325.0 ng/dl
testosterone),
osteoporosis, and diffuse calcifications in soft tissues and in the central nervous system. The second case was a 14-year-old white girl with a history of
psoriasis vulgaris from the age of five years onwards, and antecedents of
mental retardation. She presented signs of Albright osteodystrophy (short stature, round
facies,
obesity, short neck,
brachydactylia),
hypocalcemia (ionized
calcium of 1.08 mmol/l and total
calcium of 6.7 mg/dl)
hyperphosphatemia (9.4 mg/dl), elevated serum PTH levels (223.0 pg/ml),
osteoporosis, and hypergonadotrophic
hypogonadism (7.0 mU/ml LH, 9.3 mU/ml FSH and undetectable
estradiol levels).