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Dermatology and genetics: What you need to know

The skin is made up of a range of cell types that express certain chemicals and have unique features that enable intricate interactions and intercellular communication, both of which are necessary for preserving the structural integrity of the skin. The biggest organ in the body, the skin, acts as a barrier to protect the body from harm. It has both flexible and stiff features, which are controlled by the types of molecules produced in each cell and which allow correct connection and communication between individual cells. However, many hereditary skin conditions, also known as genodermatoses, a large class of dermatological anomalies caused by genetic mutations, seriously damage these qualities.


Does genetics have an impact on skin care?

There are up to 25,000 distinct genes in humans, and there isn’t just one gene that determines how your skin looks. Your skin’s health is influenced by a variety of elements, including your surroundings, skincare regimen, and heredity. The behaviour of your skin is, however, mostly determined by your genes.

Each gene has a unique set of instructions that affects traits including height, complexion, hair, and eye colour. Your parents pass on their genes to you; you receive half from your mother and half from your father.

The size and activity of the oil glands, which are involved in the development of acne, are handed down from our parents, so genes definitely play a part and can be a predisposition to specific skin problems like eczema, melanoma (a kind of skin cancer), and even acne.

Not everything is based on what our parents gave us. Although we are aware that genetics can play a part in the appearance and behaviour of your skin, environmental factors may also affect and have an impact on your skin. Sun exposure is one of the most common causes of early skin ageing and damage.

How does genetics affect the colour of skin?

The expression of genes controls the quantity and quality of melanin. Tyrosinase is a key player in the genetic system that regulates human skin colour. Constitutive skin colour is determined by genes, while facultative melanogenesis and tanning responses support it.

Some Common Genetically Related Skin Disorders


Due to the discovery of more than twenty genes that may be involved in the development of psoriasis, many medical professionals now concur that the disorder is genetically based. Even if both genetic and environmental variables can work together to create psoriasis, genetics are the most common contributor. 

Skin cancer

Genetics and certain types of skin cancer are related. Melanoma, the rarest and most dangerous kind of skin cancer, is linked to the majority of these relationships.

Mendel and other researchers found that there are three frequent ways for humans to inherit single gene (unifactorial) conditions: autosomal dominant, autosomal recessive, and X-linked recessive. There are several other inheritance patterns, such as X-linked dominant, although they are quite uncommon.

Autosomal Dominant Inheritance 

Affected individuals have one copy of a mutant dominant gene and one copy of a normal, recessive gene on a pair of autosomal chromosomes. Autosomal dominance is the term used to describe this kind of inheritance. The sickness manifests when the mutant gene outweighs the normal gene. Dermatopathia pigmentosa reticularis (DPR) is a well-known illustration of an autosomal dominant genodermatosis. DPR is an uncommon, autosomal dominant, monogenetic condition.

Reticulate hyperpigmented macules on the neck and proximal limbs, palmoplantar keratoderma, nail dystrophy, reduced sweating, mild alopecia, acral skin fragility, and onychodsytrophy are the characteristics that set DPR apart from other conditions. Tuberous sclerosis, ichthyosis vulgaris, and epidermolysis bullosa simplex are more instances of autosomal dominant dermatological diseases.

Autosomal Recessive Inheritance

Two mutant recessive genes must be present for autosomal recessive diseases to occur. Both genes must exist in their recessive versions in order for them to function. The expression of the disease would be suppressed if a defective recessive gene was paired with a healthy dominant gene.

An uncommon autosomal recessive condition known as Xeroderma pigmentosum (XP) causes aberrant pigmentation, severe freckling, poikiloderma, skin atrophy, skin ageing, neurological abnormalities, and ocular anomalies.

X-linked Inheritance

Genes that are X-linked, sometimes known as “sex-linked,” are recessive genes that are found on the X chromosome. Females with the chromosomal type XX have the chance to replace a faulty recessive gene with a healthy dominant gene to decrease its expression.

Because of their XY chromosomal type, males are unable to suppress the production of a faulty X-linked gene. Consequently, men are more likely to get X-linked disorders. A frequent keratinization condition known as X-linked ichthyosis is brought on by the deletion or inactivation of the steroid sulfatase (STS) gene and the resulting steroid sulfatase deficit.

This insufficiency is characterised by decreased keratin breakdown, hyperkeratosis and scaly skin.

X linked ichthyosis

Polygenetic Inheritance

Different genes may be involved at different loci in polygenetic illnesses, as opposed to monogenetic disorders. Psoriasis and vitiligo are two well-known polygenetic diseases. 2% of the population is afflicted by the inflammatory immune-mediated illness psoriasis. The appearance of characteristic red plaques with silver-white flaky scales can be used to identify psoriasis vulgaris, the most common variant. Additionally, psoriasis is influenced by environmental variables such as the human immunodeficiency virus, trauma, smoking, stress, and obesity.

Vitiligo is a persistent depigmenting illness that affects people of all races and genders. Like psoriasis, it has been linked to several susceptibility loci and candidate genes.


Treatment for Skin-Related Genetic and Hereditary Diseases

It’s possible or unlikely that patients with hereditary skin diseases are aware of these inherited problems. Skin issues can be simple or exceedingly complicated. All ages may be treated by dermatologists with ease. In every patient contact, a thorough family history must be obtained due to the crucial role genetics play in dermatology. Additionally, gene therapy is a fast- developing science that may offer a cure for some of the most challenging dermatological problems.

Unfortunately, autoimmune and hereditary skin conditions cannot be avoided. But those who suffer from the ailments mentioned above frequently have a wide range of therapy alternatives in their service. Topical therapies for acne have also been shown to ease the mostly hereditary symptoms of ichthyosis skin conditions. Retinoids (synthetic vitamin A) have also been demonstrated to be helpful for those with keratosis follicularis (also known as Darier disease), a rare hereditary skin condition that results in thick plaques and papules.

Contact your dermatologist about your skin disease or inherited skin condition.

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