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Epidermolysis bullosa simplex with nail dystrophy(EBS5D)

MedGen UID:
906476
•Concept ID:
C4225309
•
Disease or Syndrome
Synonym: EBS5D
 
Gene (location): PLEC (8q24.3)
 
Monarch Initiative: MONDO:0014661
OMIM®: 616487

Definition

Autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D (EBS5D) is characterized by generalized skin blistering that heals with scarring and hyperpigmentation. Nail dystrophy is severe. Mucous membranes, heart, and muscle are spared (Gostynska et al., 2015). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). [from OMIM]

Clinical features

From HPO
Alopecia
MedGen UID:
7982
•Concept ID:
C0002170
•
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
See: Feature record | Search on this feature
Pruritus
MedGen UID:
19534
•Concept ID:
C0033774
•
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
See: Feature record | Search on this feature
Nail dystrophy
MedGen UID:
66368
•Concept ID:
C0221260
•
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
See: Feature record | Search on this feature
Plantar hyperkeratosis
MedGen UID:
341658
•Concept ID:
C1856954
•
Finding
Hyperkeratosis affecting the sole of the foot.
See: Feature record | Search on this feature
Abnormal blistering of the skin
MedGen UID:
412159
•Concept ID:
C2132198
•
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
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

Professional guidelines

PubMed

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.
Irvine AD, McLean WH
Br J Dermatol 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. PMID: 10354017

Recent clinical studies

Etiology

Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Keratin disorders: from gene to therapy.
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491
Mutation analysis in the family of a Taiwanese boy with with epidermolysis bullosa simplex dowling-meara.
Ning CC, Chao SC, Uitto J, Shieh CC, Lee JY
J Formos Med Assoc 2001 Jun;100(6):407-11. PMID: 11480251
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
Niemi KM, Sommer H, Kero M, Kanerva L, Haltia M
Arch Dermatol 1988 Apr;124(4):551-4. PMID: 3355199

Diagnosis

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
Vishwanathan GB, Srinivasa M, Batrani M, Kubba A, Ghosh S, Gupta D, Jayashankar C, Rai A, Jangond A, Inamadar A, Hiremagalore R
Am J Med Genet A 2022 Aug;188(8):2454-2459. Epub 2022 May 17 doi: 10.1002/ajmg.a.62781. PMID: 35579050
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.
Patrizi A, Di Lernia V, Neri I, Badiali De Giorgi L, Masi M
Pediatr Dermatol 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x. PMID: 7899187
Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review.
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA
Br J Dermatol 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. PMID: 1610681
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.
Fine JD, Stenn J, Johnson L, Wright T, Bock HG, Horiguchi Y
Arch Dermatol 1989 Jul;125(7):931-8. doi: 10.1001/archderm.125.7.931. PMID: 2662909

Therapy

Keratin disorders: from gene to therapy.
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491

Prognosis

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
Argyropoulou Z, Liu L, Ozoemena L, Branco CC, Senra R, Reis-Rego Â, Mota-Vieira L
BMC Dermatol 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x. PMID: 29352809Free PMC Article
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ
J Invest Dermatol 2004 Apr;122(4):892-5. doi: 10.1111/j.0022-202X.2004.22408.x. PMID: 15102078
Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.
Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T
J Am Acad Dermatol 1999 Dec;41(6):950-6. doi: 10.1016/s0190-9622(99)70252-5. PMID: 10570379
Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.
Patrizi A, Di Lernia V, Neri I, Badiali De Giorgi L, Masi M
Pediatr Dermatol 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x. PMID: 7899187
Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review.
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA
Br J Dermatol 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. PMID: 1610681

Clinical prediction guides

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
Vishwanathan GB, Srinivasa M, Batrani M, Kubba A, Ghosh S, Gupta D, Jayashankar C, Rai A, Jangond A, Inamadar A, Hiremagalore R
Am J Med Genet A 2022 Aug;188(8):2454-2459. Epub 2022 May 17 doi: 10.1002/ajmg.a.62781. PMID: 35579050
A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
Argyropoulou Z, Liu L, Ozoemena L, Branco CC, Senra R, Reis-Rego Â, Mota-Vieira L
BMC Dermatol 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x. PMID: 29352809Free PMC Article
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ
J Invest Dermatol 2004 Apr;122(4):892-5. doi: 10.1111/j.0022-202X.2004.22408.x. PMID: 15102078
Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.
Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T
J Am Acad Dermatol 1999 Dec;41(6):950-6. doi: 10.1016/s0190-9622(99)70252-5. PMID: 10570379

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