Clinical case of Bloch — Sulzberger syndrome

Nadezhda V Krasnova,Larisa G Sinitsyna,Irina V Alekseeva,Tatiana Misyakova,Geliya G Gimalieva,Tatyana A Chernova

doi:10.25208/vdv1117

Abstract

Purpose.To present a clinical case of Bloch Sulzberger syndrome. Material and methods. The examinations were performed to diagnose the disease: а visual examination of the skin, cytological analysis of the gallbladder fluid, general and biochemical blood tests, genetic research. Results.During a visual examination of the skin, a differential diagnosis was made with infectious dermatitis, toxic-allergic dermatitis, epidermolysis bullosa and linear IgA-dependent dermatosis in children. Crucial in the diagnosis belonged to a genetic study, after which a deletion of exons 410 of the IKBKG gene was detected, which confirmed Bloch Sulzberger syndrome. Conclusion.Newborns with vesicle-bullous rashes entering the neonatal pathology department and observed by neonatologists require a thorough examination, a mandatory consultation of a dermatologist inorder to determine further management tactics.

Highlights

To present a clinical case of Bloch — Sulzberger syndrome
During a visual examination of the skin, a differential diagnosis was made with infectious dermatitis, toxic-allergic dermatitis, epidermolysis bullosa and linear IgA-dependent dermatosis in children
Crucial in the diagnosis belonged to a genetic study, after which a deletion of exons 4—10 of the IKBKG gene was detected, which confirmed Bloch — Sulzberger syndrome

Summary

Introduction

To present a clinical case of Bloch — Sulzberger syndrome. Material and methods. При осмотре кожи был проведен дифференциальный диагноз с дерматитами, буллезным эпидермолизом и линеарным IgA-зависимым дерматозом у детей. Решающее значение в постановке диагноза принадлежало генетическому исследованию, после проведения которого была выявлена делеция экзонов 4—10 гена IKBKG, что подтвердило синдром Блоха — Сульцбергера. Ключевые слова: синдром Блоха — Сульцбергера, везикуло-буллезные, веррукозные высыпания.

Results

Conclusion