Results 31 to 40 of about 19,213 (227)
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases
Acta Dermato-VenereologicaInherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang +7 more
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X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
Journal of Medical Case Reports, 2017 Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Amna Malik +7 more
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Dermatology Online Journal, 2005 A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
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Indian Journal of DermatologyBackground: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan +5 more
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Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
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Ichthyosis in the newborn [PDF]
Seminars in Perinatology, 2013 The ichthyoses encompass a variety of genetic disorders marked by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant associated morbidity and mortality, with the majority of complications arising as a result of impaired barrier function. This article reviews presentations
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Progress in the use of adeno-associated viral vectors for gene therapy [PDF]
, 2004 The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
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Ichthyosis uteri with carcinoma cervix: A case report
MGM Journal of Medical Sciences, 2021 Ichthyosis uteri is a rare condition in which the entire surface of the endometrium undergoes metaplasia and is replaced by stratified squamous epithelium.
Abeer M Ilyas, Ujwala Maheswari
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Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]
, 2014 International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien +13 more
core +4 more sources
JPGN Reports, EarlyView.Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz +6 more
wiley +1 more source