Genome Foundation

Dermatology and Genomics

Dermatology is the branch of medicine dealing with the skin, both medical and surgical aspects. It covers diseases related to skin, hair, nails, and infections thereof.

The skin is the body's largest organ, which acts as a barrier to protect the internal organs from injury and bacteria. It is also a good indicator of the body's overall health, making the dermatology field important in diagnosing and managing many health conditions, including simple and complex diseases like acne, eczema, psoriasis, rosacea, and skin cancer.

Some of the most common dermatologic conditions include:

Acne: pimples on the skin due to inflammation of the sebaceous glands
Dermatitis: red, swollen and sore skin caused by irritation or allergy
Psoriasis: itchy, red, scaly patches on the skin
Eczema: rough and inflamed skin that is itchy and may bleed
Burns: blisters, pus formation and tearing of skin
Cuts and scrapes: itchy, red, scaly patches on the skin which may bleed
Skin infections: Scaling and inflammation of the skin
Skin cancer: uncontrolled growth of skin cells
Insect bites: red, swollen and sore skin
Fungal infections: infection of the skin or nails caused by a fungus
Dandruff flaking: Scaly patches from the scalp
Warts: small hard growth on the skin caused by a virus
Cold sore: inflamed blister near the mouth caused by herpes simplex virus
Hives: Redness, itchy bumps on the skin

Diagnostic approaches through advances in Genetics

Advances in genetic knowledge and sequencing have led to the development of new genetic tests for rare monogenic diseases. With older technologies, these tests were expensive and time-consuming, and were usually offered as single-gene tests as determined by genetics specialists. Increasingly, new technologies allow for these single genes related to the suspected condition to be gathered together into multiple ‘panels’ of genes and tested in parallel, at vastly reduced time and expense. It is likely that clinicians across multiple specialties will have access to these tests, and eventually to tests for all genes or even the whole genome.

Most common diseases (e.g. atopic eczema and psoriasis) are complex in aetiology, caused by a combination of environmental risk factors and an underlying genetic susceptibility. Recent advances in medical genetics have led to a more comprehensive understanding of the contribution to different diseases of genetic factors and normal genetic variation between individuals. As well as contributing to a greater understanding of pathways involved in disease mechanisms (which are potential targets for drug development).

Taking into account disease sub-phenotypes, there is considerable variability in individual responses to medicines which can be due to differences in the way a drug is handled in the body (pharmacokinetics) and / or variation in the drug targets (for example, receptors, enzymes, ion channels etc.). Knowledge of the genomic influences in these processes, when combined with clinical risk factors can provide insights into how a patient will respond in terms of efficacy to a given drug which may alter drug choice and / or dose. This information can also predict susceptibility to adverse drug reactions, including those at the more severe end of the spectrum.

Genome Foundation can help and guide in multiple ways

Modern problems of geno-dermatology cover heterogeneous diseases and enzyme defects coupled with skin diseases. Moreover, the chromosome breakage syndromes are analysed. To a great extent, these problems are of theoretical interest. Still, genetic counselling is increasing and plays an integral part in the daily routine of large hospitals. We are a leading centre for diagnosing and treating genetic skin conditions.

At Genome Foundation, the clinicians and scientists have successfully handled patients suffering for a long time from a variety of skin diseases, some of which include:

Lamellar Ichthyosis and other variants,
Epidermolysis bullosa (a rare condition that causes fragile, blistering skin. The blisters may appear in response to a minor injury, even from heat, rubbing or scratching).
Palmoplantar keratoderma (thickened skin on the palms of the hand and soles of the feet)
Ectodermal dysplasia (a group of conditions affecting a combination of hair, nails, teeth or sweating)
Pachyonychia congenita (a genetic skin condition causing thickened nails and skin problems)
Xeroderma pigmentosum (a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light)

Genome Foundation has a state-of-the-art genetic diagnostic facility and services to analyse skin biopsy specimens to identify rare genetic skin disorders using Whole Exome Sequencing (WES) and Targeted Mutation Analysis (TMA). Genome Foundation is also involved in research to improve the treatment and understanding of the genetics behind skin-related issues besides optional treatment possibilities through evolving techniques like Gut microbiome modulation and transcriptomics techniques.

About the Genetic Tests offered by Genome Foundation
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FAQs

About rash evaluation

A rash evaluation is a test to find out what is causing a rash. A rash, also known as dermatitis, is an area of skin that is red, irritated, and usually itchy. A skin rash may also be dry, scaly and/or painful. Most rashes happen when the skin touches a substance that irritates it. This is known as contact dermatitis. There are two main types of contact dermatitis: allergic contact dermatitis and irritant contact dermatitis.

About Allergic Contact Dermatitis

Allergic contact dermatitis happens when the body's immune system treats a normally harmless substance as a threat. When exposed to the substance, the immune system responds to chemicals. These chemicals affect the skin, causing the skin to develop a rash. Common causes of allergic contact dermatitis include:

Poison ivy and related plants, like poison sumac and poison oak. A poison ivy rash is one of the most common types of contact dermatitis.
Cosmetics
Fragrances
Jewellery metals, such as nickel.

Allergic contact dermatitis usually causes itching that can be severe.

About Contact Dermatitis

Irritant contact dermatitis happens when a chemical substance damages an area of the skin. This causes a skin rash to form. Common causes of irritant contact dermatitis include:

Household products such as detergents and drain cleaners
Strong soaps
Pesticides
Nail polish remover
Body fluids, such as urine and saliva. These rashes, which include diaper rash, most commonly affect babies.

Irritant contact dermatitis is usually more painful than itchy.

About skin biopsy testing

A skin biopsy is a procedure that removes a small sample of skin for testing. The procedure can help diagnose a skin lesion (an abnormal area of skin). The skin sample is looked at under a microscope to check for skin cancer, a variety of skin conditions, or skin infections. Only certain skin lesions need a biopsy.

A skin biopsy is used to help diagnose a variety of skin conditions, including:

Skin disorders such as psoriasis, eczema, actinic keratosis ("precancers"), and warts.
Bacterial or fungal infections of the skin.
Skin cancer. A biopsy can confirm or rule out whether a suspicious mole or other growth is cancer. If the result is cancer, the biopsy can show what type of skin cancer it is.

Skin cancer is one of the most common types of cancer in India. The two most common types of skin cancer are basal and squamous. These cancers rarely spread to other body parts and can usually be cured with treatment. The biopsy often removes all the cancer; no further treatment is needed.

The most severe type of skin cancer is melanoma. It's more likely than other skin cancers to spread to other parts of your body, including your organs. Most deaths from skin cancer are caused by melanoma.

A skin biopsy can help diagnose skin cancer early when it's easier to treat.