Glossary

Congenital localized absence of skin - Also known as aplasia cutis congenita and historically as Bart's syndrome, these are areas of thin, atrophic skin that appear at birth.

Granulation – Formation of excess skin in areas that are healing; often appears as areas of crusting and thick, adherent, heaped-up moist skin.

Keratoderma – Superficial thickening of the skin, often with a yellow, waxy appearance, seen in some subtypes of EB.

Milia – Small, superficial white cysts that may form before blistering in some subtypes of EB.

Nail dystrophy – Abnormal appearance of the nails, which may appear small and poorly formed, ridged, unusually shaped, or thickened and discolored.

Osteopenia – Lower-than-normal bone mass or bone mineral density (the amount of bone mineral contained in a certain amount of bone). Osteopenia is a less severe form of bone loss than osteoporosis.

Pseudosyndactyly – Formation of scarring between fingers and toes such that they appear to fuse, thus severely limiting use of the hands, in particular.

Pyloric atresia – Presence of a stricture or narrowing in the stomach at the pylorus, a muscle, that prevents stomach contents from passing into the intestines.

Sepsis – Severe illness in which the bloodstream is overwhelmed by bacteria. Sepsis is caused by a bacterial infection that can begin anywhere in the body. Common places where an infection might start are skin, bowels, kidneys and lungs.