نتایج جستجو برای: pigmentary disorder
تعداد نتایج: 598061 فیلتر نتایج به سال:
Laugier-Hunziker syndrome (LHS) is a rare condition characterized by acquired hyperpigmentation involving the lips, oral mucosa, acral surfaces, nails and perineum. While patients with LHS may manifest pigmentation in all of the aforementioned areas, most present with pigmentation localized to only a few of these anatomical sites. We herein report a patient exhibiting the characteristic pigment...
Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not...
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