HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis


AKSOYLAR S. , AYDINOK Y. , SERDAROGLU E., COKER M. , OZDEMIR F., Ozkinay F. F.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.17, ss.1031-1034, 2004 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 17 Konu: 7
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1515/jpem.2004.17.7.1031
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.1031-1034

Özet

HDR syndrome is a newly recognized very rare syndrome defined by the combination of hypoparathyroidism, renal dysplasia and sensorineural deafness. Haplo-insufficiency of the GATA3 gene is the underlying mechanism of the HDR syndrome. Here we report a 16 year-old girl with HDR syndrome who presented with generalized psoriasis, which is an unusual presentation. Skin lesions rapidly disappeared after replacement therapy with calcium. It is suggested that generalized psoriasis might have been induced by hypocalcemia due to hypoparathyroidism associated with HDR syndrome.