منابع مشابه
A 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 کاملReport of a Congenital Ichthyosis
A case of congenital ichthiosis 1s presented. Histologic pattern and the treatment is discussed.
متن کاملAutosomal recessive congenital ichthyosis.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...
متن کاملHeredity in Ichthyosis
A case of advanced ichthyosis was recently admitted into the Windham Hospital. The family history as far as it could be elicited made it apparent that it was a disease of the males in the family transmitted through the females, the latter being immune. The patient's elder brother was suffering from the same disease, while his sisters were all free; his father did not suffer from it, nor his gra...
متن کاملHarlequin ichthyosis: Case report
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1933
ISSN: 0035-9157
DOI: 10.1177/003591573302601241