نتایج جستجو برای: pachyonychia congenital
تعداد نتایج: 120621 فیلتر نتایج به سال:
Dear Editor, A 10-year-old boy presented with progressive thickening of the nails over the previous 5 years. He did not have any other cutaneous and/or systemic symptoms. He was born to healthy non-consanguineous parents following an uneventful pregnancy. Upon examination, he was found to have symmetrical involvement of the finger and toenails with marked hard thickening of the distal portion o...
The rare skin disorder pachyonychia congenita (PC) is an autosomal dominant syndrome that includes a disabling plantar keratoderma for which no satisfactory treatment is currently available. We have completed a phase Ib clinical trial for treatment of PC utilizing the first short-interfering RNA (siRNA)-based therapeutic for skin. This siRNA, called TD101, specifically and potently targets the ...
Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders. In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one fami...
A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings included scalp kinky hair and dental caries. Past medical and family history had remarkable fi...
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and ost...
purpose : to evaluate the incidence of leber’s congenital amaurosis (lca) in low vision children referred to electrophysiology ward of farabi eye hospital , and review the clinical features of disease and electroretiongraphy (erg) test values to confirm the diagnosis and severity of the disease in iran . design: prospective observational case series methods : two-hundred and fifteen cases of lo...
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