Genodermatoses

Genodermatoses

These are genetic disorders manifested as skin conditions. These can be serious, rare and can also lead to disabilities and other chronic diseases.
There are nearly 400 kinds of genodermatoses. These can be classified into Monogenic or Single gene disorders and Polygenic Disorders

Monogenic Disorders

  • Acute Intermittent Porphyrin – It most commonly occurs in women and shows blister symptoms
  • Epidermolysis Bullosa – It appears as blisters when skin is rubbed. The skin can become as that of burns patients
  • Ichthyosis – In this condition, the skin has a fish like appearance – scaly, rough and very dry.

Polygenic Disorders

  • Vitiligo is a disease that causes loss of skin color and formation of white patches
  • Psoriasis is a skin condition in which the skin becomes itchy and sore. It can appear on the scalp, elbow, knees and lower back.
  • Pemphigus Vulgaris causes blisters on the mouth, throat or nose.

Xeroderma

Xeroderma is a genetic disorder that causes extreme sensitivity to UV rays. It typically affects the eyes and other parts of the skin frequently exposed to the sun. The signs & symptoms start showing in infancy & early childhood. By 2 years, kids with Xeroderma develop freckles on parts of skin exposed to the sun.

Ichthyosis Vulgaris

It is a genetic skin condition in which skin’s surface becomes thick & scaly due to accumulation of dead skin cells. This condition is also known as fish skin disease as the scaly texture of the skin is present right from birth.

Symptoms:
  • Dry skin
  • White or brown colored scales
  • Flakes on the scalp
  • Painful cracks in the skin

Colloidon Baby

It is a very rare genetic disorder of unspecified inheritance. Babies with such conditions are born prematurely and covered in yellowish membrane that limits its movements. The colloidon membrane starts to shed within 2 weeks but it greatly increases the baby’s risk of skin and lung infections, hypothermia and electrolyte imbalance.