Pretibial epidermolysis bullosa

Alternate names

DEB-Pt; Pretibial DEB; Pretibial dystrophic epidermolysis bullosa

Definition

Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction.

Cause

Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene.

Inheritance

This condition can be inherited in an autosomal dominant or autosomal recessive manner.

Signs and symptoms

In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the "pretibial region"). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Pretibial blistering

30%-79% of people have these symptoms

• Abnormal fingernail morphology(Abnormal fingernails)
• Abnormal toenail morphology(Abnormality of the toenail)
• Anonychia(Absent nails)
• Atrophic scars(Sunken or indented skin due to damage)

Diagnosis

• The diagnosis of DEB is established in a proband with characteristic clinical findings and the identification of biallelic pathogenic variants (RDEB) or a heterozygous pathogenic variant (DDEB) in COL7A1 by molecular genetic testing.
• If molecular genetic testing is not diagnostic, examination of a skin biopsy with direct immunofluorescence (IF) for specific cutaneous markers and/or electron microscopy (EM) may be necessary for diagnosis.[1].

Treatment

• Treatment is based on the signs and symptoms present in each person.
• New blisters should be lanced, drained, and in most cases dressed with a nonadherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Infants and children with severe generalized RDEB and poor growth require attention to fluid and electrolyte balance and may require nutritional support, including feeding gastrostomy.
• Anemia is treated with iron supplements and transfusions as needed.
• Other nutritional supplements may include calcium, vitamin D, selenium, carnitine, and zinc. Occupational therapy may help prevent hand contractures.
• Surgical release of fingers often needs to be repeated.[2].

NIH genetic and rare disease info

• NIH info on Pretibial epidermolysis bullosa

Pretibial epidermolysis bullosa is a rare disease.