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Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)

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A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.

Also Known As:

Bullous Congenital Ichthyosiform Erythroderma; Congenital Bullous Ichthyosiform Erythroderma; Hyperkeratosis, Epidermolytic; Bullous Ichthyosiform Erythroderma Congenital; Congenital Ichthyosiform Erythroderma, Bullous; Bullous Erythroderma Ichthyosiforme; Bullous Erythroderma Ichthyosiformes; Epidermolytic Hyperkeratoses; Erythroderma Ichthyosiformes, Bullous; Hyperkeratoses, Epidermolytic; Ichthyosiforme, Bullous Erythroderma; Ichthyosiformes, Bullous Erythroderma; Erythroderma Ichthyosiforme, Bullous; Ichthyosiform Erythroderma, Bullous Congenital

Networked: 173 relevant articles (2 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
2.	Bloom Syndrome (Syndrome, Bloom)
3.	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
4.	Ichthyosis (Xeroderma)
5.	Skin Diseases

Experts

1.	Akiyama, Masashi: 5 articles (05/2011 - 02/2002)
2.	Shimizu, Hiroshi: 5 articles (05/2011 - 02/2002)
3.	Sakai, Kaori: 3 articles (05/2011 - 06/2007)
4.	Arin, Meral J: 3 articles (11/2009 - 01/2004)
5.	Shwayder, Tor: 3 articles (11/2009 - 01/2004)
6.	Ishida-Yamamoto, A: 3 articles (01/2002 - 08/2000)
7.	Iizuka, H: 3 articles (01/2002 - 08/2000)
8.	Takahashi, H: 3 articles (01/2002 - 08/2000)
9.	Krieg, Thomas: 2 articles (11/2009 - 04/2006)
10.	Hausser, Ingrid: 2 articles (11/2009 - 04/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Epidermolytic Hyperkeratosis:

1.	Isotretinoin (Accutane)FDA LinkGeneric 11/01/1982 - "A boy with epidermolytic hyperkeratosis was treated systemically for 4 1/2 years with 13-cis-retinoic acid. " 04/01/1982 - "A multicenter study of the effectiveness of 13-cis-retinoic acid (isotretinoin) in lamellar ichthyosis and epidermolytic hyperkeratosis has been conducted. " 03/01/2009 - "Here a rare case in a 23 years old male is reported with epidermolytic hyperkeratosis and treated successfully with mixture of topical emollients with retinoid and systemic isotretinoin."
2.	calcipotriene (calcipotriol)FDA LinkGeneric 01/01/2003 - "Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child." 05/01/2013 - "Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment."
3.	EmollientsIBA 03/01/2009 - "Here a rare case in a 23 years old male is reported with epidermolytic hyperkeratosis and treated successfully with mixture of topical emollients with retinoid and systemic isotretinoin."
4.	Keratins (Keratin)IBA 02/05/2001 - "To study the molecular and cellular basis of mosaicism, we established a mouse model for the autosomal-dominant skin blistering disorder, epidermolytic hyperkeratosis (MIM 113800), which is caused by mutations in either keratin K1 or K10. " 01/01/1994 - "Epidermolytic hyperkeratosis: Skin biopsy; consider keratin gene studies. " 01/01/2012 - "Histology revealed epidermolytic hyperkeratosis with degeneration of the upper epidermis and perinuclear deposits of abnormal keratin aggregations. " 07/01/2005 - "This disease is the first confirmed spontaneous keratin mutation in a nonhuman species and is the first reported recessive form of epidermolytic hyperkeratosis." 07/01/2005 - "Epidermolytic hyperkeratosis in humans is caused by dominant-negative mutations in suprabasal epidermal keratins 1 and 10. "
5.	Keratin-1IBA 02/01/2012 - "A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1)." 05/01/2011 - "Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation." 09/01/2006 - "Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement." 08/01/2006 - "A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis." 05/01/2006 - "A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis."
6.	Keratin-10IBA 01/15/2012 - "The concept was first demonstrated by detecting the R156H-mutant gene of keratin 10 in Epidermolytic hyperkeratosis (EHK). " 05/01/2008 - "A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10." 08/01/2007 - "Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case." 08/01/2007 - "R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis." 04/01/2006 - "A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis."
7.	Keratin-5 (Keratin 5)IBA 04/01/2003 - "In this study, we report two novel frameshift mutations that are predicted to alter the tail of keratin 1 or keratin 5, leading to an atypical form of epidermolytic hyperkeratosis and a mild form of epidermolysis bullosa simplex, respectively. " 04/01/2003 - "Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5."
8.	Bullous erythroderma ichthyosiformis congenita of BrocqIBA 02/01/2009 - "Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis." 01/01/2006 - "It must be differentiated from other conditions with epidermolytic hyperkeratosis and skin peeling, such as bullous ichthyosiform erythroderma of Brocq and peeling skin syndrome. " 02/01/1985 - "The lesions are clinically indistinguishable from Unna-Thost disease but resemble epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) histopathologically. " 06/01/1986 - "Thus ichthyosis bullosa shares with bullous ichthyosiform erythroderma blistering and epidermolytic hyperkeratosis, but can be distinguished from this wellknown disease by the lack of erythroderma, by the mauserung phenomenon, by the confinement of acanthokeratolysis to the superficial layers of the epidermis, and by intracorneal blistering." 10/01/1993 - "As compared with the latter, the numbers of PCNA-positive epidermal keratinocytes were increased in psoriasis, congenital non-bullous ichthyosiform erythroderma, epidermolytic hyperkeratosis and chronic dermatitis and decreased in ichthyosis vulgaris, X-linked ichthyosis and pityriasis rubra pilaris. "
9.	Collodion (Nitrocellulose)IBA 05/01/2015 - "Non-bullous congenital ichthyosiform erythroderma (NBCIE) is an autosomal recessive form of inherited icthyosis appears as fine white scales that gradually replace collodion membrane. " 11/01/2000 - "A 21-year-old woman presented with non-bullous congenital ichthyosiform erythroderma; she was born a collodion baby. " 03/01/2005 - "Staph scalded skin syndrome, collodion membrane, bullous congenital ichthyosiform erythroderma, autosomal recessive ichthyosis (lamellar and congenital ichthyosiform erythroderma), and harlequin fetus are used as examples of these disruptions. " 10/01/2001 - "A 14-year-old male and his 11-year-old female sibling had both been born as collodion babies and were initially diagnosed as having non-bullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum. " 10/01/1987 - "Diseases with greatly increased involucrin staining including collodion baby (38%), Darier's disease (49%), Flegel's disease (56%), erythrokeratoderma variabilis (60%), epidermal naevus with epidermolytic hyperkeratosis (45%) and congenital bullous (58%) and non-bullous (44%) ichythyosiform erythroderma; and diseases with normal or slightly increased staining, including ichthyosis vulgaris (27%), X-linked ichthyosis (25%), confluent and reticulate papillomatosis (27%) and simple epidermal naevus (28%). "
10.	Arginine (L-Arginine)FDA Link 02/01/1999 - "Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis." 08/01/1998 - "Codon 156 has been previously identified as a mutational hot spot and substitutions of this arginine residue are very common in epidermolytic hyperkeratosis patients. " 09/01/1996 - "We report a novel mutation in a case of epidermolytic hyperkeratosis that results in a proline for arginine substitution in the penultimate residue position of the H1 subdomain of the keratin 1 chain, which is near the beginning of the rod domain. " 03/01/1996 - "The most frequent mutation that causes the autosomal dominant skin disease epidermolytic hyperkeratosis (EHK) is an arginine to histidine substitution at position 10 in the 1A segment of the rod domain of keratin 10. " 11/01/1998 - "The same arginine position has been mutated in the keratin 10 gene in epidermolytic hyperkeratosis, the keratin 14 gene in epidermolysis bullosa simplex, and the keratin 9 gene in hereditary EPPK in Western patients. "

Therapies and Procedures

1.	General Anesthesia 05/01/2015 - "How to cite this article: Choudhary R, Satish V. Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. " 05/01/2015 - "Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia." 12/01/2003 - "A 3-year-old girl with non-bullous congenital ichthyosiform erythroderma underwent two operations separately under general anesthesia. "
2.	Hip Replacement Arthroplasty (Total Hip Replacement) 12/01/2005 - "Complex total hip replacement in a patient with epidermolytic hyperkeratosis. "