Epidermolysis bullosa simplex, Dowling-Meara

{
  "id": "MLC-T-ONC-002891",
  "term": "Epidermolysis bullosa simplex, Dowling-Meara",
  "field": "Oncology and biomedicine",
  "definition": "A rare, inherited disorder in which many clusters of blisters form all over the body, especially on the face, hands, feet, arms, legs, and trunk. Blisters may also form in the inner lining of the mouth and other parts of the gastrointestinal tract and the upper respiratory tract. Other signs and symptoms include scarring, changes in skin color, nail problems, and thickening of the skin on the palms of the hands and bottoms of the feet. The signs and symptoms usually appear at birth and tend to get better over time. However, infants with a severe form of the disease die within the first year of life. People with epidermolysis bullosa simplex, Dowling-Meara have a high risk of developing basal cell skin cancer by age 55 years. Epidermolysis bullosa simplex, Dowling-Meara is caused by mutations (changes) in the KRT5 or KRT14 genes. Also called EBS-DM.",
  "synonyms": [
    "EBS-DM"
  ],
  "references": [
    "NCI Dictionary of Cancer Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/epidermolysis-bullosa-simplex-dowling-meara/"
}