Hereditary Epidermolysis Bullosa: New Description

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechano-bullous disorders characterized by blister formation in response to mechanical trauma. The blistering of the skin occurs in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Epidermolysis Bullosa Simplex (EBS), the most commonly occurring type, is dominantly inherited where treatment still remains a major challenge.

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Inherited Epidermolysis Bullosa: A case report

Journal of Universal College of Medical Sciences ◽

10.3126/jucms.v3i3.24248 ◽

2015 ◽

Vol 3 (3) ◽

pp. 39-42 ◽

Cited By ~ 1

Author(s):

Shyam Kumar Mahato ◽

Susana Lama ◽

Nikhil Agarwal ◽

Nagendra Chaudhary

Keyword(s):

Case Report ◽

Epidermolysis Bullosa ◽

Neonatal Period ◽

Heterogeneous Group ◽

Mechanical Trauma ◽

Epidermolysis Bullosa Simplex ◽

Blister Formation ◽

Inherited Epidermolysis Bullosa ◽

Genetically Determined ◽

Degrees Of Severity

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Junctional Epidermolysis Bullosa of the Larynx

PEDIATRICS ◽

10.1542/peds.78.1.172 ◽

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.

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Apocytolysis, a proposed mechanism of blister formation in epidermolysis bullosa simplex

Archives of Dermatological Research ◽

10.1007/s00403-015-1560-4 ◽

2015 ◽

Vol 307 (4) ◽

pp. 371-377 ◽

Cited By ~ 4

Author(s):

Marwa S. El-Hawary ◽

Mona R. E. Abdel-Halim ◽

Safinaz S. Sayed ◽

Heba A. Abdelkader

Keyword(s):

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

Blister Formation

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Ultrastructure of Blister Formation in Epidermolysis Bullosa Hereditaria: V. Epidermolysis Bullosa Simplex Localisata Type Weber-Cockayne

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12506502 ◽

1982 ◽

Vol 78 (3) ◽

pp. 219-223 ◽

Cited By ~ 54

Author(s):

Eckart Haneke ◽

Ingrun Anton-Lamprecht

Keyword(s):

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

Blister Formation ◽

Epidermolysis Bullosa Hereditaria

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Eruptive Large Melanocytic Nevus in a Patient with Hereditary Epidermolysis bullosa simplex

Dermatology ◽

10.1159/000074124 ◽

2003 ◽

Vol 207 (4) ◽

pp. 402-404 ◽

Cited By ~ 12

Author(s):

N.G. Stavrianeas ◽

A.C. Katoulis ◽

V. Moussatou ◽

E. Bozi ◽

H. Petropoulou ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Melanocytic Nevus ◽

Epidermolysis Bullosa Simplex ◽

Hereditary Epidermolysis Bullosa

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A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5

Genes ◽

10.3390/genes12101503 ◽

2021 ◽

Vol 12 (10) ◽

pp. 1503

Author(s):

Francesco Paduano ◽

Emma Colao ◽

Teresa Grillone ◽

Marco Flavio Michele Vismara ◽

Rosario Amato ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Mechanical Stability ◽

Pathogenic Variant ◽

Mechanical Trauma ◽

Epidermolysis Bullosa Simplex ◽

Pathogenic Variants ◽

Family Pedigree ◽

Familial Form ◽

The Family ◽

Skin Fragility

Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the KRT5 and KRT14 genes that compromise the mechanical stability of epithelial cells. By performing DNA sequencing in a female patient with EBS, we found the pathogenic variant c.967G>A (p.Val323Met) in the KRT5 gene. This variant co-segregated with EBS in the family pedigree and was transmitted in an autosomal dominant inheritance manner. This is the first report showing a familial form of EBS due to this pathogenic variant.

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