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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.
 
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]
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.
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.
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.
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.

Term Hierarchy

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

Professional guidelines

PubMed

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
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
Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE
Clin Genet 2021 Jan;99(1):29-41. Epub 2020 Jun 29 doi: 10.1111/cge.13792. PMID: 32506467

Recent clinical studies

Etiology

Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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
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
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
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

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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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
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
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

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
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
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
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
Limmer AL, Nwannunu CE, Shah R, Coleman K, Patel RR, Mui UN, Tyring SK
Skin Therapy Lett 2019 May;24(3):7-9. PMID: 31095348

Prognosis

Polizzi A, Santonocito S, Patini R, Quinzi V, Mummolo S, Leonardi R, Bianchi A, Isola G
Biomed Res Int 2022;2022:6493156. Epub 2022 May 31 doi: 10.1155/2022/6493156. PMID: 35686231Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Evtushenko NA, Beilin AK, Kosykh AV, Vorotelyak EA, Gurskaya NG
Int J Mol Sci 2021 Nov 18;22(22) doi: 10.3390/ijms222212446. PMID: 34830328Free PMC Article
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
Mallipeddi R
Clin Exp Dermatol 2002 Nov;27(8):616-23. doi: 10.1046/j.1365-2230.2002.01130.x. PMID: 12472531

Clinical prediction guides

de Azevedo BLR, Roni GM, Dettogni RS, Torrelio RMF, Leal LF, da Gama-de-Souza LN
Clin Oral Investig 2023 Jun;27(6):3117-3124. Epub 2023 Feb 13 doi: 10.1007/s00784-023-04917-3. PMID: 36781477
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
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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Knöbel M, O'Toole EA, Smith FJ
Cell Tissue Res 2015 Jun;360(3):583-9. Epub 2015 Jan 27 doi: 10.1007/s00441-014-2105-4. PMID: 25620412

Recent systematic reviews

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
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
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
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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