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.
Aksoylar
Serap
S
Departments of Pediatrics, Ege University Medical School, Izmir, Turkey. serap@med.ege.edu.tr
Aydinok
Yeşim
Y
Serdaroğlu
Erkin
E
Coker
Mahmut
M
Ozdemir
Fezal
F
Ozkinay
Ferda
F
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