Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.
نویسندگان
چکیده
منابع مشابه
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.
BACKGROUND Bullous congenital ichthyosiform erythroderma (BCIE) shows phenotypic variability. An epidermal nevus may represent somatic mosaicism for keratin gene mutation, which produces generalized BCIE in the next generation. This fact provides evidence that a postzygotic mutation can be passed on to the next generation in BCIE. We hypothesized that the same phenomenon occurred in a family wi...
متن کاملDIFFUSE EPIDERMOLYTIC EPIDERMAL NEVUS AND GENETIC COUNSELING: A CASE REPORT AND BRIEF REVIEW OF THE TOPIC Diffuse Epidermolytic Epidermal Nevus and Genetic Counseling: A Case Report and Brief Review of the Topic
A 16-month-old female presented with an extensive epidermal nevus demonstrating epidermolytic hyperkeratosis on histologic evaluation. Individuals with this disorder are at increased risk of bearing children with epidermolytic ichthyosis. This occurs because the same mutations causing cutaneous somatic mosaicism may also affect the gonads. Genetic counseling is advised for individuals with exte...
متن کاملInfantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Other manifestations include palmoplantar keratoderma (PPK). EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic var...
متن کاملA novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis
Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All...
متن کاملRetinoids reduce formation of keratin aggregates in heat-stressed immortalized keratinocytes from an epidermolytic ichthyosis patient with a KRT10 mutation*.
Epidermolytic ichthyosis (EI) is an autosomal dominant epidermal skin fragility disorder caused by mutations in keratin 1 and 10 (K1 and K10) genes. Mutated keratins form characteristic aggregates in vivo and in vitro. Some patients benefit from retinoid therapy, although the mechanism is not fully understood. Our aim was to demonstrate whether retinoids affect the formation of keratin aggregat...
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ورودعنوان ژورنال:
- Acta dermato-venereologica
دوره 94 3 شماره
صفحات -
تاریخ انتشار 2014