Kindler syndrome - a rare type of hereditary epidermolysis bullosa

Abstract

The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.

Keywords

• синдром киндлер
• киндлин-1
• пойкилодермия
• псевдосиндактилия
• врожденный буллезный эпидермолиз
• kindler syndrome
• kindlin-1
• poikiloderma
• pseudosyndactyly
• hereditary epidermolysis bullosa