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Rare Genetic Skin Disorders

You must be well aware that the skin is the largest organ of the body. It helps protect the internal

organs from bacteria, viruses, fungi and parasites that cause diseases. Skin also helps regulate body

temperature, prevent dehydration, due to water loss, and provides the brain with sensory

information. The skin is divided into three layers epidermis, dermis and subcutaneous inner layer.Each layer is made up of different types of cells. Skin is affected by different types of disorders and

diseases. You must have heard of common skin diseases. But, there are a few rare genetic skin

disorders that affect about 1 in 2000 people.

Rare Genetic Skin Diseases and Disorders

Rare genetic skin diseases are called genodermatoses. These conditions are hereditary and passed

on from parents to their children. They may even occur as a mutation of the genes. Most of these

conditions are apparent at birth and cause many social inhibitions to the patients. These diseases

are very rare and therefore their treatment options are limited. Some of these rare genetic skindisorders are as follows:

Epidermolysis Bullosa

This is a rare skin condition that causes blistering of the skin due to heat, injury or friction of skin

due to rubbing or scratching. This condition is common in infants and very young children. In some

people, the condition may develop in adolescence or adulthood. In many cases, newborn babies

https://www.talend.com/products/mdmare born with blisters. This condition may improve with age,

but may turn fatal when complications develop. Studies have found 10 genes to be involved in the

development of this genetic skin disorder. There are three types of epidermolysis bullosa:

epidermolysis bullosa simplex (mildest form), junctional epidermolysis bullosa (severe form) and

dystrophic epidermolysis bullosa (mild to severe).

Harlequin Ichthyosis

This is one of the most severe and rare genetic skin disorder. It is also called Harlequin baby,

itchyosis congenita, keratosis diffusa fetalis and itcthyosis fetalis. This condition causes the keratin

layer of the fetal human skin to thicken. This causes large, diamond-shaped scales to develop on the

skin. Abnormal contraction of the eyes, ears and penis also occurs. The movement of the child is

severely limited due to the thickened keratin skin. Then cracks that appear in between these scales

on skin making it vulnerable to bacteria and other infectious agents.

Incontinentia Pigmenti

This rare genetic skin disorder also affects the hair, nails, teeth and central nervous system. It has a

microscopic appearance and therefore called incontinentia pigmenti. It is also known by other

names like Bloch-Siemens syndrome, Bloch-Sulzberger syndrome, melanoblastosis cutis linearis or

naevus pigmentosus systematicus. This condition causes blistering from birth to about 6 months of

age in babies. Then a wart like rash appears for several months, and then after about 6 months of

age a swirling macular hyperpigmentation occurs. This condition also leads to linear

hypopigmentation. The tooth shape is abnormal and the patient suffers from dystrophyic nails. Theskin is discolored due to excessive melanin deposits. This causes the trunk and extremities to turn

blue, brown or slate gray in color.

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keratosis palmoplantaris. It leads to dry, thick skin patches. These thick patches appear on the

palms, hands and soles of feet. A mutation of the gene located on chromosome 8 leads to this

disorder.

Epidermodysplasia verruciformis

This is a rare autosomal recessive genetic skin disorder that is hereditary in nature. It causes scaly

macules and papules to grow on the hands and feet. It leads to recurrent HPV infections. This

condition occurs due to a mutation of chromosome 17.

Keratolytic Winter Erythema (KWE)

This is a rare autosomal dominant skin disease. This rare skin disease has an unknown etiology and

causes extreme redness and peeling of the skin. This condition leads to inflammation and irritation

and becomes severe during winter.

A mutation on the chromosomes leads to the development of these conditions. Some genetic skin

disorders can lead to formation of skin tumors and cancers. These skin conditions lead to a lot of

psychological stress on the patient, as most of these skin conditions appear in children. Speak to a

dermatologist for more information related to these rare genetic skin diseases and disorders.

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