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

Abstract

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.

• Authors: Serap Aksoylar, Yeşim Aydinok, Erkin Serdaroğlu, Mahmut Coker, Fezal Ozdemir, Ferda Ozkinay
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 17 Issue 7 Pg. 1031-4 (Jul 2004) ISSN: 0334-018X [Print] Germany
• PMID: 15301053 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Female
• Hearing Loss, Sensorineural (pathology)
• Humans
• Hypocalcemia (pathology)
• Hypoparathyroidism (drug therapy, pathology)
• Kidney (pathology)
• Psoriasis (pathology)
• Syndrome