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

Cobb Syndrome
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.

Lymphomatoid papulosis (LyP)

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 and 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 https://www.youtube.com/watch?v=fH03Rj4O0PU 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.
Ichthyosis Bullosa of Siemens
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.
DeSanctis-Cacchione Syndrome
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.
Meleda Disease (MDM)
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.

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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