Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature

2021 ◽  
Author(s):  
Xingli Zhou ◽  
Mi Wang ◽  
Sheng Wang ◽  
Xian Jiang ◽  
Wei Li
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Chinese Woman ◽  
Urinary Symptoms ◽  
Compound Heterozygous ◽  
Review Of The Literature ◽  
Junctional Epidermolysis Bullosa

Junctional Epidermolysis Bullosa of the Larynx

PEDIATRICS ◽  
1986 ◽  
Vol 78 (1) ◽  
pp. 172-174
Author(s):  
MARGARET A. KENNA ◽  
SYLVAN E. STOOL ◽  
SUSAN B. MALLORY
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Minor Trauma ◽  
Junctional Epidermolysis Bullosa ◽  
First Case ◽  
New Variant ◽  
Genetically Determined ◽  
Dermatologic Disease ◽  
Hereditary Epidermolysis Bullosa ◽  
Laryngeal Involvement

Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation.1 A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported.2 Airway involvement has not been a notable feature of this disease. We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. CASE REPORT An 11-month-old white boy with known junctional epidermolysis bullosa and mild stridor since birth was referred by his dermatologist for increasing stridor of 24 hours duration. He was initially thought to have croup; however, conservative treatment with mist and racemic epinephrine did not improve his symptoms.

scholarly journals Junctional Epidermolysis Bullosa: A Case Report

2014 ◽  
Vol 37 (3) ◽  
pp. 175-178
Author(s):  
Lutfan Nessa ◽  
Uzere Azam ◽  
Partho Sharothy Mazumder ◽  
Shabnam Akhter
Keyword(s):  
Case Report ◽  
Child Health ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa

DOI: http://dx.doi.org/10.3329/bjch.v37i3.18622 Bangladesh J Child Health 2013; Vol.37(3): 175-178

scholarly journals Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa

1998 ◽  
Vol 111 (3) ◽  
pp. 528-533 ◽  
Author(s):  
Michaela Floeth ◽  
Heike Schäcke ◽  
Nadja Hammami-Hauasli ◽  
Leena Bruckner-Tuderman ◽  
Jan Fiedorowicz ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Compound Heterozygous ◽  
Junctional Epidermolysis Bullosa

Herlitz Junctional Epidermolysis Bullosa Presenting at Birth with Anonychia: A Case Report and Review of H‐JEB

2001 ◽  
Vol 18 (3) ◽  
pp. 217-222 ◽  
Author(s):  
Kourosh Parsapour ◽  
Michael D. Reep ◽  
Layla Mohammed ◽  
Annamaria Church ◽  
Tor Shwayder
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa
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