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Epidermolysis bullosa simplex 1C, localized(EBS1C)

MedGen UID:
87016
•Concept ID:
C0080333
•
Disease or Syndrome
Synonyms: Cockayne-Touraine type epidermolysis bullosa; EBS, acral form; Epidermolysis bullosa of hands and feet; Epidermolysis bullosa simplex, Cockayne-Touraine type; Epidermolysis Bullosa Simplex, Weber-Cockayne Type; Localized epidermolysis bullosa simplex; Weber-Cockayne Syndrome
SNOMED CT: Weber-Cockayne syndrome (294705005); Epidermolysis bullosa simplex of the hands AND/OR feet (294705005); DEBS-WC (294705005); Dominant epidermolysis bullosa simplex, Weber-Cockayne type (294705005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): KRT14 (17q21.2)
 
Monarch Initiative: MONDO:0007551
OMIM®: 131800
Orphanet: ORPHA79400

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Localized epidermolysis bullosa simplex-1C (EBS1C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by Has et al., 2020). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type. For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). Reviews Has et al. (2020) reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility. Fine et al. (2008) reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system.  http://www.omim.org/entry/131800

Clinical features

From HPO
Milia
MedGen UID:
87528
•Concept ID:
C0345996
•
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
See: Feature record | Search on this feature
Hyperkeratosis
MedGen UID:
209030
•Concept ID:
C0870082
•
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
See: Feature record | Search on this feature
Stratum basale cleavage
MedGen UID:
411295
•Concept ID:
C2748755
•
Finding
Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.
See: Feature record | Search on this feature
Palmoplantar blistering
MedGen UID:
870430
•Concept ID:
C4024876
•
Finding
A type of blistering that affects the skin of the palms of the hands and the soles of the feet.
See: Feature record | Search on this feature

Term Hierarchy

Follow this link to review classifications for Epidermolysis bullosa simplex 1C, localized in Orphanet.

Professional guidelines

PubMed

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M
J Eur Acad Dermatol Venereol 2023 Feb;37(2):411-419. Epub 2022 Nov 5 doi: 10.1111/jdv.18692. PMID: 36287101
Eye Involvement and Management in Inherited Epidermolysis Bullosa.
Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D
Drugs 2022 Aug;82(12):1277-1285. Epub 2022 Sep 8 doi: 10.1007/s40265-022-01770-8. PMID: 36074321
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V
Spec Care Dentist 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article

Recent clinical studies

Etiology

Annular bullous diseases.
Sussman M, Zhai L, Morquette A, Huang S, Hsu S
Clin Dermatol 2022 Sep-Oct;40(5):516-528. Epub 2022 Jan 1 doi: 10.1016/j.clindermatol.2021.12.012. PMID: 34979265
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Investigational Treatments for Epidermolysis Bullosa.
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Inherited defects in keratins.
Irvine AD
Clin Dermatol 2005 Jan-Feb;23(1):6-14. doi: 10.1016/j.clindermatol.2004.09.014. PMID: 15708284

Diagnosis

Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Investigational Treatments for Epidermolysis Bullosa.
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Inherited epidermolysis bullosa: update on the clinical and genetic aspects.
Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE
An Bras Dermatol 2020 Sep-Oct;95(5):551-569. Epub 2020 Jul 8 doi: 10.1016/j.abd.2020.05.001. PMID: 32732072Free PMC Article
Inherited defects in keratins.
Irvine AD
Clin Dermatol 2005 Jan-Feb;23(1):6-14. doi: 10.1016/j.clindermatol.2004.09.014. PMID: 15708284

Therapy

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.
Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, Steimer M, Kapadia B, Sridhar K, Quesada Sanchez L, Gonzalez F, Van Ligten M, Parry TJ, Chitra S, Kammerman LA, Krishnan S, Marinkovich MP
N Engl J Med 2022 Dec 15;387(24):2211-2219. doi: 10.1056/NEJMoa2206663. PMID: 36516090
In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP
Nat Med 2022 Apr;28(4):780-788. Epub 2022 Mar 28 doi: 10.1038/s41591-022-01737-y. PMID: 35347281Free PMC Article
Application of topical gentamicin-a new era in the treatment of genodermatosis.
Wang S, Yang Z, Liu Y, Zhao MT, Zhao J, Zhang H, Liu ZY, Wang XL, Ma L, Yang YH
World J Pediatr 2021 Dec;17(6):568-575. Epub 2021 Nov 17 doi: 10.1007/s12519-021-00469-2. PMID: 34787828
Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Gene therapy for autosomal dominant disorders of keratin.
Lewin AS, Glazer PM, Milstone LM
J Investig Dermatol Symp Proc 2005 Oct;10(1):47-61. doi: 10.1111/j.1087-0024.2005.10207.x. PMID: 16250209

Prognosis

Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Pfendner E, Rouan F, Uitto J
Exp Dermatol 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. PMID: 15810881
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Uitto J, Richard G
Clin Dermatol 2005 Jan-Feb;23(1):33-40. doi: 10.1016/j.clindermatol.2004.09.015. PMID: 15708287
Inherited defects in keratins.
Irvine AD
Clin Dermatol 2005 Jan-Feb;23(1):6-14. doi: 10.1016/j.clindermatol.2004.09.014. PMID: 15708284

Clinical prediction guides

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M
J Eur Acad Dermatol Venereol 2023 Feb;37(2):411-419. Epub 2022 Nov 5 doi: 10.1111/jdv.18692. PMID: 36287101
Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.
Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, Steimer M, Kapadia B, Sridhar K, Quesada Sanchez L, Gonzalez F, Van Ligten M, Parry TJ, Chitra S, Kammerman LA, Krishnan S, Marinkovich MP
N Engl J Med 2022 Dec 15;387(24):2211-2219. doi: 10.1056/NEJMoa2206663. PMID: 36516090
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Pfendner E, Rouan F, Uitto J
Exp Dermatol 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. PMID: 15810881
Quality of life in epidermolysis bullosa.
Horn HM, Tidman MJ
Clin Exp Dermatol 2002 Nov;27(8):707-10. doi: 10.1046/j.1365-2230.2002.01121.x. PMID: 12472552

Recent systematic reviews

Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V
Spec Care Dentist 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article
Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review.
Xie D, Bilgic-Temel A, Abu Alrub N, Murrell DF
Pediatr Dermatol 2019 Jul;36(4):430-436. Epub 2019 Jun 9 doi: 10.1111/pde.13866. PMID: 31177584
A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa.
Langan SM, Williams HC
Clin Exp Dermatol 2009 Jan;34(1):20-5. Epub 2008 Sep 25 doi: 10.1111/j.1365-2230.2008.02789.x. PMID: 18828848

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