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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

Authors:

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 epidermis involving 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

Treatment of epidermolysis bullosa simplex with dupilumab.
Sun X, Zhang J, Yang Q, Lin J
J Dermatol 2024 Apr;51(4):e131-e132. Epub 2023 Nov 10 doi: 10.1111/1346-8138.17037. PMID: 37950437
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
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

Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
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

Diagnosis

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
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

Therapy

Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.
Kern JS, Sprecher E, Fernandez MF, Schauer F, Bodemer C, Cunningham T, Löwe S, Davis C, Sumeray M, Bruckner AL, Murrell DF; EASE investigators
Br J Dermatol 2023 Jan 23;188(1):12-21. doi: 10.1093/bjd/ljac001. PMID: 36689495
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
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
Epidermolysis bullosa simplex.
Jain PK, Kaushik A
Indian Pediatr 1983 Jan;20(1):63-5. PMID: 6862607

Prognosis

Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.
Pachis ST, Ramovs V, Freund C, Has C, Raymond K
Stem Cell Res 2024 Dec;81:103551. Epub 2024 Sep 10 doi: 10.1016/j.scr.2024.103551. PMID: 39317060
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
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
Inherited blistering diseases of the skin.
Fine JD, Johnson LB, Wright JT
Pediatrician 1991;18(3):175-87. PMID: 1946084

Clinical prediction guides

Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.
Pachis ST, Ramovs V, Freund C, Has C, Raymond K
Stem Cell Res 2024 Dec;81:103551. Epub 2024 Sep 10 doi: 10.1016/j.scr.2024.103551. PMID: 39317060
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
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.
Uitto J, Pulkkinen L, McLean WH
Mol Med Today 1997 Oct;3(10):457-65. doi: 10.1016/s1357-4310(97)01112-x. PMID: 9358473

Recent systematic reviews

Oral Prosthetic Rehabilitation in Patients with Epidermolysis Bullosa Hereditaria: A Systematic Review.
Mascarell S, Citterio H, Le Roux É, Berdal A, Lescaille G, Friedlander L
Int J Prosthodont 2024 Nov 22;37(6):699-710. doi: 10.11607/ijp.8791. PMID: 38096448
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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