Epidermolysis bullosa, pretibial, autosomal recessive

MedGen UID:: 864382
•Concept ID:: C4015945
•: Finding

Synonym:	EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE

OMIM®:	120120

Recent clinical studies

Etiology

Pretibial dystrophic epidermolysis bullosa.

Callegaro EAC, Nappi F, Lazzarini R, Lellis RF
An Bras Dermatol 2017;92(5 Suppl 1):126-128. doi: 10.1590/abd1806-4841.20175952. PMID: 29267469 Free PMC Article

See all (1)

Diagnosis

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J
Matrix Biol 2018 Mar;66:22-33. Epub 2017 Nov 11 doi: 10.1016/j.matbio.2017.11.003. PMID: 29138120

Pretibial dystrophic epidermolysis bullosa.

Callegaro EAC, Nappi F, Lazzarini R, Lellis RF
An Bras Dermatol 2017;92(5 Suppl 1):126-128. doi: 10.1590/abd1806-4841.20175952. PMID: 29267469 Free PMC Article

See all (2)

Clinical prediction guides

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S
J Dermatol Sci 2009 May;54(2):114-20. Epub 2009 Mar 3 doi: 10.1016/j.jdermsci.2009.01.006. PMID: 19261445

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Epidermolysis bullosa, pretibial, autosomal recessive

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity