HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis.
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.
Departments of Pediatrics, Ege University Medical School, Izmir, Turkey. serap@med.ege.edu.tr
Serap
S
Aksoylar
Yeşim
Y
Aydinok
Erkin
E
Serdaroğlu
Mahmut
M
Coker
Fezal
F
Ozdemir
Ferda
F
Ozkinay
D000293:Adolescent; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D006996:Hypocalcemia / Q000473:pathology*; D007011:Hypoparathyroidism / Q000188:drug therapy / Q000473:pathology*; D007668:Kidney / Q000473:pathology*; D011565:Psoriasis / Q000473:pathology*; D013577:Syndrome