Literature DB >> 15301053

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

Serap Aksoylar1, Yeşim Aydinok, Erkin Serdaroğlu, Mahmut Coker, Fezal Ozdemir, Ferda Ozkinay.   

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.

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Year:  2004        PMID: 15301053     DOI: 10.1515/jpem.2004.17.7.1031

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  2 in total

1.  Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.

Authors:  Yong Suk Shim; Woohyeok Choi; Il Tae Hwang; Seung Yang
Journal:  Ann Pediatr Endocrinol Metab       Date:  2015-03-31

2.  Seizure, deafness, and renal failure: a case of barakat syndrome.

Authors:  Nasrollah Maleki; Bahman Bashardoust; Manouchehr Iranparvar Alamdari; Zahra Tavosi
Journal:  Case Rep Nephrol       Date:  2013-10-22
  2 in total

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