HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis
Makaleler > Tam Makale · 2004
Yazarlar: Serap AKSOYLAR, Yeşim AYDINOK, E SERDAROGLU, Mahmut ÇOKER, FIRAT OZDEMIR, Feriştah Ferda ÖZKINAY
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2004, cilt 17, ss 1031-1034
DOI: 10.1515/jpem.2004.17.7.1031
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.