نتایج جستجو برای: trichorrhexis
تعداد نتایج: 58 فیلتر نتایج به سال:
Erasmus Wilson, whose book entitled A Practical and Theoretical Treatise on the Diagnosis, Pathology, and Treatment of Diseases of the Skin16 was published just one hundred years ago, needs no advocate. No apology need be offered for any of his writings or teachings, as is attested by the fame which he attained in many fields. He began his professional career as an anatomist, and he published b...
Netherton Syndrome (NS) is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after[1]. Its incidence is estimated to be 1/200,000[2]. NS presents in most (but not all) patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin[3]. Other common featur...
Netherton syndrome (NS) is a rare autosomal reces-sive genodermatosis caused by SPINK-5 mutations. The SPINK-5 gene encodes the serine protease inhibitor LEKTI and is located on chromosome 5q32. Unopposed degradation of corneodesmosomes is the basis for a severely impaired skin barrier function in patients with NS. Effective treatments for patients with NS are limited. Some success has been ach...
We describe the case of a four-year-old girl admitted to our hospital to attend a specific oral tolerance induction (SOTI) to wheat. She was born at term, without perinatal problems. On the second day of life, she developed a perioral dermatitis that worsened during the following days into a scaling eczema localised on face, neck and skin folds. Because of this her diet was changed from cow’s m...
G enetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix (MIM...
To the Editor: Netherton syndrome (NS) is a rare autosomal recessive ichthyosis due to loss-of-function mutations in SPINK5 encoding LEKTI.1Chavanas S. Bodemer C. Rochat A. et al.Mutations SPINK5, serine protease inhibitor, cause syndrome.Nat Genet. 2000; 25: 141-142Crossref PubMed Scopus (659) Google Scholar Patients with NS typically present linearis circumflexa (NS-ILC) or scaly erythroderma...
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/ THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs). Neonates with intracta...
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