Laryngo-Onycho-Cutaneous Syndrome

Joey E. Lai-Cheong; Dédée F. Murrell; Amy S. Paller

doi:10.1007/978-3-662-45698-9_38

Laryngo-Onycho-Cutaneous Syndrome

Joey E. Lai-Cheong, Dédée F. Murrell, Amy S. Paller^*

^*Corresponding author for this work

Dermatology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

Non-Herlitz junctional epidermolysis bullosa is characterized by localized or generalized blistering of the skin at the level of the lamina lucida, caused by mutations in one of the six genes coding for laminin-332, type XVII collagen, or integrin I[alpha]6I[beta]4. Characteristic is the loss of secondary hair, enamel hypoplasia, and the high incidence of revertant mosaicism. Junctional epidermolysis bullosa with pyloric atresia is caused by severe deficiency of integrin I±6I²4 and is usually lethal in infancy. Junctional epidermolysis bullosa of late onset is caused by recessive missense mutations in COL17A1 and is not usually associated with the loss of secondary hair, which is so typical in non-Herlitz disease.

Original language	English (US)
Title of host publication	Blistering Diseases
Subtitle of host publication	Clinical Features, Pathogenesis, Treatment
Publisher	Springer Berlin Heidelberg
Pages	393-396
Number of pages	4
ISBN (Electronic)	9783662456989
ISBN (Print)	9783662456972
DOIs	https://doi.org/10.1007/978-3-662-45698-9_38
State	Published - Jan 1 2015

Funding

Work was funded by the Dystrophic Epidermolysis Bullosa Research Association of Australia (to D.F. Murrell), by the Research Infrastructure Support Services Ltd funded under the Commonwealth Government's National Collaborative Research Infrastructure Strategy (to D.F. Murrell), by a Foerderer Fellowship (to H.I. Cohn), and by a Dubbs Scholar Fellowship (to H.I. Cohn).

ASJC Scopus subject areas

General Medicine

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10.1007/978-3-662-45698-9_38

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title = "Laryngo-Onycho-Cutaneous Syndrome",

abstract = "Non-Herlitz junctional epidermolysis bullosa is characterized by localized or generalized blistering of the skin at the level of the lamina lucida, caused by mutations in one of the six genes coding for laminin-332, type XVII collagen, or integrin I[alpha]6I[beta]4. Characteristic is the loss of secondary hair, enamel hypoplasia, and the high incidence of revertant mosaicism. Junctional epidermolysis bullosa with pyloric atresia is caused by severe deficiency of integrin I±6I24 and is usually lethal in infancy. Junctional epidermolysis bullosa of late onset is caused by recessive missense mutations in COL17A1 and is not usually associated with the loss of secondary hair, which is so typical in non-Herlitz disease.",

author = "Lai-Cheong, {Joey E.} and Murrell, {D{\'e}d{\'e}e F.} and Paller, {Amy S.}",

note = "Funding Information: Work was funded by the Dystrophic Epidermolysis Bullosa Research Association of Australia (to D.F. Murrell), by the Research Infrastructure Support Services Ltd funded under the Commonwealth Government's National Collaborative Research Infrastructure Strategy (to D.F. Murrell), by a Foerderer Fellowship (to H.I. Cohn), and by a Dubbs Scholar Fellowship (to H.I. Cohn). Publisher Copyright: {\textcopyright} Springer-Verlag Berlin Heidelberg 2015.",

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doi = "10.1007/978-3-662-45698-9_38",

language = "English (US)",

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AU - Lai-Cheong, Joey E.

AU - Murrell, Dédée F.

AU - Paller, Amy S.

N1 - Funding Information: Work was funded by the Dystrophic Epidermolysis Bullosa Research Association of Australia (to D.F. Murrell), by the Research Infrastructure Support Services Ltd funded under the Commonwealth Government's National Collaborative Research Infrastructure Strategy (to D.F. Murrell), by a Foerderer Fellowship (to H.I. Cohn), and by a Dubbs Scholar Fellowship (to H.I. Cohn). Publisher Copyright: © Springer-Verlag Berlin Heidelberg 2015.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Non-Herlitz junctional epidermolysis bullosa is characterized by localized or generalized blistering of the skin at the level of the lamina lucida, caused by mutations in one of the six genes coding for laminin-332, type XVII collagen, or integrin I[alpha]6I[beta]4. Characteristic is the loss of secondary hair, enamel hypoplasia, and the high incidence of revertant mosaicism. Junctional epidermolysis bullosa with pyloric atresia is caused by severe deficiency of integrin I±6I24 and is usually lethal in infancy. Junctional epidermolysis bullosa of late onset is caused by recessive missense mutations in COL17A1 and is not usually associated with the loss of secondary hair, which is so typical in non-Herlitz disease.

AB - Non-Herlitz junctional epidermolysis bullosa is characterized by localized or generalized blistering of the skin at the level of the lamina lucida, caused by mutations in one of the six genes coding for laminin-332, type XVII collagen, or integrin I[alpha]6I[beta]4. Characteristic is the loss of secondary hair, enamel hypoplasia, and the high incidence of revertant mosaicism. Junctional epidermolysis bullosa with pyloric atresia is caused by severe deficiency of integrin I±6I24 and is usually lethal in infancy. Junctional epidermolysis bullosa of late onset is caused by recessive missense mutations in COL17A1 and is not usually associated with the loss of secondary hair, which is so typical in non-Herlitz disease.

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SN - 9783662456972

SP - 393

EP - 396

BT - Blistering Diseases

PB - Springer Berlin Heidelberg

ER -

Laryngo-Onycho-Cutaneous Syndrome

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