Dermatology

• Ectodermal dyspalasias are a group of disorders that affect the skin, sweat glands, hair, nails, teeth and mucus membranes. These conditions cause at least two of the above body parts to develop abnormally. There is a wide phenotypic variability in individuals affected by ectodermal dysplasia depending on the body parts affected. These conditions usually present in birth but can remain undetected until early childhood. These conditions can be inherited in an X-linked manner

• • • Epidermolysis bullosa is a group of genetic conditions that result in the blistering of the skin. Most types of Epidermolysis Bullosa are inherited and symptoms can appear between infancy to early adulthood. Blisters may appear anywhere in the body including inside the mouth but they most commonly occur on the hands and feet There is no cure for this condition however treatments are available to care for existing blisters and prevent additional ones. This condition can be inherited in an autosomal dominant and autosomal recessive manner.

• • • Ichthyosis refers to a set of inherited skin conditions that cause dryness and scaly skin. There are about 20 different variations of ichthyosis that can either be inherited or acquired. These conditions can present at birth or laterin life. though there is no cure of Ichthyosis, the symptoms may be managed with a skin care routine inheritance pattern of Ichthyosis depends on the molecular cause of the condition, it can be inherited in an autosomal dominant, autosomal recessive and X-linked manner. These conditions can also be cause by de novo mutations that are initially reported in the index patient.

• • Oculocutaneous albinism is caused when there is a variant in one of the genes areinvolved in the production of melanin in the skin, had and eyes. Insufficient melanin in the eyes results in abnormal eye development, vision difficulties and problems in the optic nerves. Abnormal amounts of melanin in the skin causes very sensitive skin that is highly prone to damage. There are several different subtypes of this disorder and they are inherited in mostly an autosomal recessive manner while some subtypes are inherited in an X-linked manner

• Xerodema pigmentosum refers to a rare condition that prevent the body from repairing the damage that is associated with exposure to ultraviolet light. Individuals with this condition are highly sensitive to sunlight and are more susceptible to develop skin cancer. Additionally, individuals affected by this condition have skin that appears to be dry or aging and some patients present with eye problems and more rarely neurological issues. These symptoms can occur starting from infancy and affect men and women of all races. Xerodema pigmentosum is inherited in an autosomal recessive manner.

• Tuberous sclerosis is a rare genetic disease that causes tumors to grow in/on different organs. This disorder can be diagnosed after birth and manifests via the formation of benign tumors on the different body organs including but not limited the skin, brain, lungs, heart, eyes and kidneys. this rare disorder is highly variable and can vary from person to person – this condition can cause a mild to severe phenotype. Not all individuals are diagnosed at birth and some individuals can remain undiagnosed in adulthood. A molecular diagnosis of this condition can be confirmed using two different genetic techniques – next generation sequencing and multiplex ligation-dependent probe analysis. These are two different techniques that can performed to identify disease causing changes in the genes associated with the condition. They can be performed simultaneously or step by step.

Specialties involved – Dermatology, Cardiology, Neurology, ophthalmology, pulmonary, nephrology