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[9] [8] Children who survive the first year of life often have long-term problems such as red skin, joint contractures and delayed growth. [5] The condition affects around 1 in 300,000 births. [7] It was first documented in a diary entry by Reverend Oliver Hart in America in 1750. [6]
Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. [7] Inherited EB is a rare disease with a prevalence in the United States of 8.2 per million live births. [8]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
[1] [2] It is a rare skin disorder that primarily affects children under one year of age but can also be found in older children and adults. [3] It was first described in 1905 by Adamson. [4] In 5% to 17% of people, the disorder is present at birth, but the median age of onset is two years.
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. [1] [2] "Butterfly child" is the colloquial name for children born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly. [3]
In around 10% of cases the baby sheds this layer of skin and has normal skin for the rest of its life. [2] [5] This is known as self-healing collodion baby. The remaining 15% of cases are caused by a variety of diseases involving keratinization disorders. [5] Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. [3]
Darier's disease (DD) is a rare, genetic skin disorder. It is an autosomal dominant disorder, that is, if one parent has DD, there is a 50% chance than a child will inherit DD. It was first reported by French dermatologist Ferdinand-Jean Darier in 1889.
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. [1] There are many different types of genodermatosis; the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people. [2]
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