Open AccessKindler syndrome - a rare type of hereditary epidermolysis bullosa
Author(s) -
V. I. Albanova,
V. I. Albanova,
V. A. Smolyannikova,
В А Смольянникова,
V. A. Golchenko,
V. A. Golchenko
Publication year - 2015
Publication title -
vestnik dermatologii i venerologii
Language(s) - English
Resource type - Journals
eISSN - 2313-6294
pISSN - 0042-4609
DOI - 10.25208/0042-4609-2015-91-4-95-104
Subject(s) - epidermolysis bullosa , poikiloderma , medicine , dermatology , microstomia , genodermatosis , pathology , gene , biochemistry , chemistry
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.