Filaggrin Mutations are Associated with Ichthyosis Vulgaris in the Southern Chinese Population
نویسندگان
چکیده
IV (OMIM 146700) is the most common ichthyosis with an estimated prevalence of 1:250–1000, and is inherited in a semidominant pattern [1]. Patients have light grey scaling, keratosis pilaris, increased palmoplantar markings and associated atopic manifestations. Involvement is generally mild and may vary greatly with climate and humidity. There is reduced or absence of keratohyalin granules in the epidermis. In addition, there is a decrease or absence of profilaggrin, a major component of keratohyalin granules [3,4].
منابع مشابه
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children
BACKGROUND Null mutations within the filaggrin gene (FLG) cause ichthyosis vulgaris and are associated with atopic eczema. However, the dermatological features of filaggrin haploinsufficiency have not been clearly defined. OBJECTIVES This study investigated the genotype-phenotype association between detailed skin phenotype and FLG genotype data in a population-based cohort of children. METH...
متن کاملGenetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.
BACKGROUND Filaggrin is a key protein that facilitates the formation of skin barrier by forming a stratum corneum. Mutations in the gene encoding filaggrin (FLG) have recently been reported in patients with ichthyosis vulgaris (IV). Interestingly, there are ethnic differences between FLG mutations identified in Asians and Europeans, and few FLG mutations are overlapping between Chinese and Japa...
متن کاملThe allergy gene: how a mutation in a skin protein revealed a link between eczema and asthma
Ichthyosis vulgaris is a common genetic skin disorder characterized by dry, scaly skin. About 1% of the European population have the full presentation of ichthyosis vulgaris; up to 10% have a milder, subclinical form. Atopic eczema is the most common, inflammatory skin condition, affecting 20% of children. It is often accompanied by a number of other allergies, including atopic asthma. Atopic e...
متن کاملA possible association between a dysfunctional skin barrier (filaggrin null-mutation status) and diabetes: a cross-sectional study
Background Filaggrin proteins are located in the skin and prevent epidermal water loss and impede the entry of micro-organisms, allergens and chemicals. Filaggrin null mutations are strongly associated with ichthyosis vulgaris and atopic dermatitis. Objective The authors aimed to investigate the association between filaggrin null mutations, atopic dermatitis and diabetes. Design A random samp...
متن کاملIncidence of moderate to severe ichthyosis in the United States.
M ost statistics on the incidence of hereditary ichthyosis are acknowledged as best-guess estimates. The exceptions are population-based studies for the prevalence of steroid sulfatase deficiency (xlinked ichthyosis) and mutations in filaggrin (ichthyosis vulgaris). We wondered whether the unique International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code for...
متن کامل