A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate

Non-bullous congenital ichthyosiform erythroderma.

A 4-day-old neonate was brought with complaints of fissuring and peeling of skin involving almost the whole body. The neonate had generalized desquamation not even sparing the palms, soles and face. The parents informed that the baby was born, enclosed in a constricting parchmentlike membrane (collodion baby) that had gradually comeoff. There was a past history of a child born with similar pres...

Bullous ichthyosiform erythroderma

Bullous ichthyosiform erythroderma (BIE) is a rare disorder of keratinization (mutations in either keratin 1 or 10). It typically presents with fragile skin, which gives way to gradual evolutionof hyperkeratosis. Flaccid blisters, peeling, and superficial erosions at sites of minor trauma or friction are apparent within the first few hours of life. Yellow-brown, waxy, ridged or corrugated...

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with recessive inheritance of EHK. Sequence analysis revealed a homozygous nonsense mut...

Congenital reticular ichthyosiform erythroderma.

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...