Epidermolytic hyperkeratosis: clinical update

D Peter Rout, A Nair, A Gupta… - Clinical, Cosmetic and …, 2019 - Taylor & Francis
Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform
erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder …

Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders

R Ross, JJ DiGiovanna, L Capaldi, Z Argenyi… - Journal of the American …, 2008 - Elsevier
BACKGROUND: The clinical condition generalized epidermolytic hyperkeratosis, also
known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder …

Bullous congenital ichthyosiform erythroderma of Brocq

M Kucharekova, K Mosterd… - International Journal …, 2007 - Wiley Online Library
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic
hyperkeratosis (EHK, OMIM 113800) is characterized by erythroderma and blistering at birth …

[HTML][HTML] Epidermolytic hyperkeratosis

J Kwak, E Maverakis - Dermatology online journal, 2006 - escholarship.org
A 13-year-old boy presented to the dermatology clinic for treatment of a congenital
ichthyosis with a history of generalized erythroderma and trauma related blistering at the …

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

MC Bolling, RS Bladergroen… - British Journal of …, 2010 - academic.oup.com
Background Epidermolytic ichthyosis (EI), previously termed bullous congenital
ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous …

[PDF][PDF] Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1

VP Sybert, JS Francis, LD Corden, LT Smith… - The American Journal of …, 1999 - cell.com
Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and
erythroderma in infancy and by erythroderma and ichthyosis thereafter. Epidermolytic …

[PDF][PDF] Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene

EH Recessive - Journal of Investigative Dermatology, 2009 - core.ac.uk
Epidermolytic hyperkeratosis (EH; MIM 113800), also termed bullous congenital
ichthyosiform erythroderma, is a keratinization disorder characterized by erythema and …

Ichthyosiform dermatoses: so many discoveries, so little progress

JJ DiGiovanna - Journal of the American Academy of Dermatology, 2004 - jaad.org
The term ichthyosis comes from the Greek ichthys, meaning ''fish,''and refers to the clinical
appearance of scaly skin. Ichthyosis can be present at birth or develop later in life, be limited …

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event

NL Lacz, RA Schwartz… - International journal of …, 2005 - Wiley Online Library
Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization
disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It …

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

JA Gutierrez, ZC Hannoush, LG Vargas… - Molecular genetics & …, 2013 - Wiley Online Library
Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized
erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later …