Kindler syndrome - a rare type of hereditary epidermolysis bullosa

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 s...

Full description

Bibliographic Details
Published in:Vestnik Dermatologii i Venerologii
Main Authors: V. I. Albanova, V. A. Smolyannikova, V. A. Golchenko
Format: Article
Language:English
Published: State Scientific Center of Dermatovenereology and Cosmetology 2017-08-01
Subjects:
синдром киндлер
киндлин-1
пойкилодермия
псевдосиндактилия
врожденный буллезный эпидермолиз
kindler syndrome
kindlin-1
poikiloderma
pseudosyndactyly
hereditary epidermolysis bullosa
Online Access:https://www.vestnikdv.ru/jour/article/view/167
Description
Summary: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.
ISSN:0042-4609
2313-6294

Similar Items