BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature...BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.CASE SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(p.Ser133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.CONCLUSION These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.展开更多
基金Supported by the Department of Education of Zhejiang Province,No.Y201738451Health and Family Planning Commission of Zhejiang Province,No.2016148438
文摘BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.CASE SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(p.Ser133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.CONCLUSION These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.
