Laryngo-onycho-cutaneous syndrome.

Abstract:

:Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique mutation affecting the N terminus of the alpha3 chain of LM332. Although LOC syndrome is now a subtype of JEB(JEB-LOC) JEB-LOC has a distinct clinicopathologic appearance and molecular fingerprint. The intricacies of the JEB-LOC subtype are discussed in this article with regard to disease presentation, pathogenesis, management, and prognosis.

journal_name

Dermatol Clin

journal_title

Dermatologic clinics

authors

Cohn HI,Murrell DF

doi

10.1016/j.det.2009.10.010

subject

Has Abstract

pub_date

2010-01-01 00:00:00

pages

89-92

issue

1

eissn

0733-8635

issn

1558-0520

pii

S0733-8635(09)00084-9

journal_volume

28

pub_type

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