Inherited ichthyosis: Syndromic forms

Syndromic and non-syndromic forms of XLMR

| Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of m...

Genetic Study of Syndromic Inherited Deafness

The study comprised 25 patients with Syndromic genetic hearing loss. They were selected from the Audiology Unit, Faculty of Medicine, and the Human Genetics clinic, Medical Research Institute, , Alexandria University. Their ages ranged from 2.5 to 19 years. Males were more affected than females (M/F ratio = 2:1). T he high parental consanguinity (63.2 %) emphasizes the contribution of autosomal...

A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.

Burden of inherited ichthyosis: a French national survey.

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires we...

Family burden in inherited ichthyosis: creation of a specific questionnaire

BACKGROUND The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cornification. Skin symptoms have a major impact on patients' Quality of Life bu...