Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F16%3A00113807" target="_blank" >RIV/00216224:14110/16:00113807 - isvavai.cz</a>

Výsledek na webu

<a href="http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5385263&blobtype=pdf" target="_blank" >http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5385263&blobtype=pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3315/jdcr.2016.1231" target="_blank" >10.3315/jdcr.2016.1231</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Popis výsledku v původním jazyce

Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. Main observations: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement. Conclusion: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases.

Název v anglickém jazyce

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Popis výsledku anglicky

Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. Main observations: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement. Conclusion: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30216 - Dermatology and venereal diseases

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JOURNAL OF DERMATOLOGICAL CASE REPORTS

ISSN

1898-7249

e-ISSN

—

Svazek periodika

10

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

PL - Polská republika

Počet stran výsledku

10

Strana od-do

39-48

Kód UT WoS článku

000398124600001

EID výsledku v databázi Scopus

2-s2.0-85017512806