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 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 skin disorders are as follows:

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 are 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).

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.

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. The skin is discolored due to excessive melanin deposits. This causes the trunk and extremities to turn blue, brown or slate gray in color.

One of the rare congenital skin disorders is Cobb syndrome. This condition causes the appearance of skin lesions with spinal angiomas or arteriovenous malformations. This condition is thought to be a sporadic mutation, as this disease generally does not appear in the parents. The signs of this disorder are often seen in children or young adults.

The symptoms include sudden numbness, pain or weakness of the extremities. Cutaneous lesions appear anywhere from the middle of the back to abdomen. As the disorder progresses, it leads to weakness, paresis, sensory loss and loss of bowel and badder control.

This is a rare genetic skin disorder that occurs in just 1.2 cases per 1,000,000 population. This condition can develop into lymphoma & is similar in appearance to anaplastic large cell lymphoma. This condition has characteristics that resembles malignant T cell lymphoma. It causes the appearance of small, raised skin lesions that are red to brown in color.

These lesions maybe itchy and even bleed at times. The lesions appear on the trunk, arms, and legs in most cases. However, they may even appear on the face, scalp, palms and soles of some patients. These lesions heal on their own after few weeks and a small, hypopigmented scar remains in its place. This skin disorder may recur for many years.

This is a type of autosomal dominant itchyosis that has no cure. This condition affects the upper layers of the skin epidermis. The appearance of a newborn baby's skin is red as if sun burned. The blistering depends on the severity of the disease.

After a few weeks the redness reduces and the skin turns dry, flaky. Only the skin on the arms, legs and around the navel is affected. Even mild trauma or sweating can cause blisters to appear. Hyperkeratosis takes places and occurs around the knees, elbows and ankles.

The DeSanctis-Cacchione syndrome is an extremely rare condition. It leads to xeroderma pigmentosum (XP) of the skin and eye. It occurs in association with microcephaly, mental retardation, retarded sexual development, ataxia and choreoathetosis.

This is an extremely rare autosomal recessive congenital skin disorder. It is also called Mljet disease, 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.

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.

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.