KEGG DISEASE: Bullous congenital ichthyosiform erythroderma (BCIE)

DISEASE: Bullous congenital ichthyosiform erythroderma (BCIE)

Entry

H00691                      Disease

Name

Bullous congenital ichthyosiform erythroderma (BCIE);
Epidermolytic hyperkeratosis (EHK)

Subgroup

Annular epidermolytic ichthyosis [DS:H02265]

Supergrp

Congenital ichthyosis [DS:H01771]

Description

Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H00691  Bullous congenital ichthyosiform erythroderma (BCIE)

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

Gene

(EHK1) KRT1 [HSA:3848] [KO:K07605]
(EHK2A/2B) KRT10 [HSA:3858] [KO:K07604]

Other DBs

ICD-11:

EC20.03

MeSH:

D017488

OMIM:

113800 620150 620707

Reference

PMID:18571597

Authors

Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L

Title

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

Journal

J Am Acad Dermatol 59:86-90 (2008)
DOI:10.1016/j.jaad.2008.02.031

Reference

PMID:12130905

Authors

Siegel DH, Howard R

Title

Molecular advances in genetic skin diseases.

Journal

Curr Opin Pediatr 14:419-25 (2002)
DOI:10.1097/00008480-200208000-00011

Reference

PMID:15663649

Authors

Lacz NL, Schwartz RA, Kihiczak G

Title

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.

Journal

Int J Dermatol 44:1-6 (2005)
DOI:10.1111/j.1365-4632.2004.02364.x

Reference

PMID:1380725 (EHK1 EHK2A)

Authors

Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR

Title

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Journal

Science 257:1128-30 (1992)
DOI:10.1126/science.257.5073.1128

Reference

PMID:16505000 (EHK2B)

Authors

Muller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ

Title

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Journal

Hum Mol Genet 15:1133-41 (2006)
DOI:10.1093/hmg/ddl028

LinkDB

» Japanese version

DISEASE: Ichthyosis hystrix

Entry

H00707                      Disease

Name

Ichthyosis hystrix

Subgroup

Ichthyosis hystrix, Curth-Macklin type (IHCM)
Ichthyosis hystrix, Lambert type (IHL)

Description

Ichthyosis hystrix is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes. It has been postulated that mutations in KRT1 result in a phenotype with the presence of palmoplantar keratoderma, the Curth-Macklin type (IHCM), while mutations in KRT10 cause the Lambert type (IHL), in which palmoplantar keratoderma is absent.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00707  Ichthyosis hystrix
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H00707  Ichthyosis hystrix

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

Gene

(IHCM) KRT1 [HSA:3848] [KO:K07605]
(IHL) KRT10 [HSA:3858] [KO:K07604]

Other DBs

ICD-11:

EC20.03

MeSH:

C536088 C536087

OMIM:

146590 146600

Reference

PMID:12603866

Authors

Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H

Title

In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.

Journal

J Invest Dermatol 120:498-500 (2003)
DOI:10.1046/j.1523-1747.2003.12064.x

Reference

PMID:12688839

Authors

Smith F

Title

The molecular genetics of keratin disorders.

Journal

Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005

Reference

PMID:21844476 (KRT1)

Authors

Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase S, Ishida-Yamamoto A

Title

Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.

Journal

Arch Dermatol 147:999-1001 (2011)
DOI:10.1001/archdermatol.2011.217

Reference

PMID:29689068 (KRT1, KRT10)

Authors

Terrinoni A, Didona B, Caporali S, Chillemi G, Lo Surdo A, Paradisi M, Annichiarico-Petruzzelli M, Candi E, Bernardini S, Melino G

Title

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

Journal

PLoS One 13:e0195792 (2018)
DOI:10.1371/journal.pone.0195792

LinkDB

» Japanese version

DISEASE: Striate palmoplantar keratoderma

Entry

H00717                      Disease

Name

Striate palmoplantar keratoderma

Supergrp

Palmoplantar keratoderma [DS:H01673]

Description

Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1).

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00717  Striate palmoplantar keratoderma
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00717  Striate palmoplantar keratoderma
  nt06545  Cornified envelope formation
   H00717  Striate palmoplantar keratoderma

Pathway

hsa04820 Cytoskeleton in muscle cells

hsa04382 Cornified envelope formation

Network

nt06539 Cytoskeleton in muscle cells
nt06545 Cornified envelope formation

Gene

(PPKS1) DSG1 [HSA:1828] [KO:K07596]
(PPKS2) DSP [HSA:1832] [KO:K10381]
(PPKS3) KRT1 [HSA:3848] [KO:K07605]

Other DBs

ICD-11:

EC20.31

MeSH:

C536162 C565102 C536163

OMIM:

148700 612908 607654

Reference

PMID:20883380

Authors

Kawai K, Fukushige T, Sakanoue M, Kanekura T

Title

Striate palmoplantar keratoderma.

Journal

J Dermatol 37:854-6 (2010)
DOI:10.1111/j.1346-8138.2010.00874.x

Reference

PMID:18627762

Authors

Bragg J, Rizzo C, Mengden S

Title

Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome).

Journal

Dermatol Online J 14:26 (2008)
DOI:10.5070/D33nq345bt

Reference

PMID:19558595 (PPKS1)

Authors

Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS

Title

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.

Journal

Br J Dermatol 161:692-4 (2009)
DOI:10.1111/j.1365-2133.2009.09316.x

Reference

PMID:9887343 (PPKS2)

Authors

Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE

Title

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

Journal

Hum Mol Genet 8:143-8 (1999)
DOI:10.1093/hmg/8.1.143

Reference

PMID:11982762 (PPKS3)

Authors

Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA

Title

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

Journal

J Invest Dermatol 118:838-44 (2002)
DOI:10.1046/j.1523-1747.2002.01750.x

LinkDB

» Japanese version

DISEASE: Epidermolytic palmoplantar keratoderma

Entry

H00722                      Disease

Name

Epidermolytic palmoplantar keratoderma

Supergrp

Palmoplantar keratoderma [DS:H01673]

Description

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00722  Epidermolytic palmoplantar keratoderma
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H00722  Epidermolytic palmoplantar keratoderma

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

Gene

(EPPK1) KRT9 [HSA:3857] [KO:K07604]
(EPPK2) KRT1 [HSA:3848] [KO:K07605]

Other DBs

ICD-11:

EC20.30

MeSH:

D053546

OMIM:

144200 620411

Reference

PMID:19341430

Authors

Braun-Falco M

Title

Hereditary palmoplantar keratodermas.

Journal

J Dtsch Dermatol Ges 7:971-84; quiz 984-5 (2009)
DOI:10.1111/j.1610-0387.2009.07058.x

Reference

PMID:12688839

Authors

Smith F

Title

The molecular genetics of keratin disorders.

Journal

Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005

Reference

PMID:15538081

Authors

Sehgal VN, Sardana K, Sharma S, Raut D

Title

Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.

Journal

Skinmed 3:323-30; quiz 331-2 (2004)
DOI:10.1111/j.1540-9740.2004.03243.x

Reference

PMID:7512862 (EPPK1)

Authors

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schrock E, Royer-Pokora B, Franke WW, Sperling K, et al.

Title

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

Journal

Nat Genet 6:174-9 (1994)
DOI:10.1038/ng0294-174

Reference

PMID:11286630 (EPPK2)

Authors

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP

Title

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

Journal

J Invest Dermatol 116:606-9 (2001)
DOI:10.1046/j.1523-1747.2001.13041234.x

LinkDB

» Japanese version

DISEASE: Annular epidermolytic ichthyosis

Entry

H02265                      Disease

Name

Annular epidermolytic ichthyosis;
Cyclic ichthyosis with epidermolytic hyperkeratosis

Supergrp

Bullous congenital ichthyosiform erythroderma (BCIE) [DS:H00691]
Congenital ichthyosis [DS:H01771]

Description

Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is an autosomal dominant disorder characterized by intermittent development of polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. Mutations in keratin 10 or 1 have been identified in AEI.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H02265  Annular epidermolytic ichthyosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H02265  Annular epidermolytic ichthyosis

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

Gene

(AEI1) KRT10 [HSA:3858] [KO:K07604]
(AEI2) KRT1 [HSA:3848] [KO:K07605]

Other DBs

ICD-11:

EC20.03

MeSH:

C564367

OMIM:

607602 620148

Reference

PMID:25751346

Authors

Jha A, Taneja J, Ramesh V, Singh A

Title

Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.

Journal

Indian J Dermatol Venereol Leprol 81:194-7 (2015)
DOI:10.4103/0378-6323.152299

Reference

PMID:9036939 (AEI1)

Authors

Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR

Title

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.

Journal

J Invest Dermatol 108:357-61 (1997)
DOI:10.1111/1523-1747.ep12286491

Reference

PMID:10053007 (AEI2)

Authors

Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH

Title

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Journal

Am J Hum Genet 64:732-8 (1999)
DOI:10.1086/302278

LinkDB

» Japanese version

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