DOWLING-MEARA SYNDROME

Dowling-Meara Syndrome, also referred to as epidermolysis bullosa, is a rare group of disorders characterized by brittle, blistering skin. Blisters may form due to minor harm, such as heat, rubbing, scraping, or sticky tape. Also, blisters may develop within the body in extreme situations, including in the mouth or stomach lining.

Moreover, the majority of Dowling-Meara Syndrome cases are hereditary. This disease generally manifests itself in infancy or early childhood. Also, some individuals might not exhibit symptoms until adolescence or early adulthood.

TYPES

The different types of Dowling-Meara Syndrome are:

  • Kindler syndrome. Blisters may occur in all skin layers.
  • Simplex. Blisters occur on the top layer of skin and seldom scar.
  • Dystrophic. Blisters appear in the dermis (lower layer of the skin).
  • Junctional. Blisters occur in the mouth and airway.

SYMPTOMS

Symptoms of Dowling-Meara Syndrome may vary depending on the kind. They are as follows:

  • Thick or undeveloped nails
  • Thin-appearing skin 
  • Milia or white skin bumps
  • Tooth decay
  • Blisters on the scalp
  • Hair loss
  • Brittle skin
  • Blisters on hand, feet, inside the mouth, and throat
  • Difficulty in swallowing

DIAGNOSIS

To diagnose Dowling-Meara Syndrome, the doctor performs a skin biopsy. A doctor takes a tiny skin sample and examines it under a microscope. Also, a genetic test may validate the kind of epidermolysis bullosa (EB) and identify the gene mutation.

TREATMENT

Treatment for Dowling-Meara Syndrome focuses on preventing blisters from developing, managing blisters and skin to avoid complications, addressing nutritional issues that may arise from blisters in the mouth or esophagus, and controlling discomfort. The doctor may also advise the following:

  • Keep rooms at a pleasant and consistent temperature to avoid overheating.
  • Dress in soft, loose-fitting clothes.
  • Avoid the sun or use sunscreen.
  • Use non-adhesive bandages, tape, and rolled gauze to protect your skin.

Also, your doctor may advise you to perform the following to treat blisters:

  • Take pain-relieving medicines.
  • Treat wounds daily using ointments.
  • Utilize medicinal bandages to aid in blister healing and infection prevention.

Furthermore, your doctor may prescribe the following to avoid nutrition issues caused by difficulties eating:

  • Add water to mashed meals to thin them down and make them more digestible.
  • Serve warm food.
  • Prepare soft meals, such as soups, pudding, mashed potatoes, and applesauce.
  • Use an eyedropper or syringe to feed the infant.
  • Utilize a customized nipple on a baby bottle.

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