Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica (pronounced: epi-der-mo-ly-sis bul-lo-sa dis-trofi-ka) is a rare genetic skin disorder characterized by the presence of extremely fragile skin and recurrent blister formation. It is a form of Epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
Etymology
The term "Epidermolysis bullosa dystrophica" is derived from the Greek words "epi" meaning "upon", "derma" meaning "skin", "lysis" meaning "loosening", "bullosa" meaning "blister", and "dystrophica" meaning "bad nourishment".
Symptoms
Symptoms of Epidermolysis bullosa dystrophica include skin fragility, blistering, and erosions at sites of friction, particularly the hands and feet, but any area of the skin can be affected. Other symptoms may include milia (small white skin bumps), nail dystrophy or loss, and thickened skin on the palms and soles of the feet (palmoplantar keratoderma).
Causes
Epidermolysis bullosa dystrophica is caused by mutations in the COL7A1 gene. This gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen provides structure and strength to the connective tissues that support the skin, muscles, and other organs.
Diagnosis
Diagnosis of Epidermolysis bullosa dystrophica is based on clinical examination, family history, and confirmed by skin biopsy and genetic testing.
Treatment
There is currently no cure for Epidermolysis bullosa dystrophica. Treatment is supportive and aims to protect the skin, prevent blister formation, and manage complications. This may include wound care, pain management, nutritional support, and in some cases, surgical intervention.
Related Terms
External links
- Medical encyclopedia article on Epidermolysis bullosa dystrophica
- Wikipedia's article - Epidermolysis bullosa dystrophica
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