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Dystrophic epidermolysis bullosa, nails only

MedGen UID:
928216
•Concept ID:
C4302547
•
Disease or Syndrome
Synonyms: DEB-na; dominant dystrophic epidermolysis bullosa, nails only; Dystrophic epidermolysis bullosa nails only; dystrophic epidermolysis bullosa, nails only; Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only; Nails only DEB (dystrophic epidermolysis bullosa); nails-only DDEB; nails-only DEB
SNOMED CT: Dystrophic epidermolysis bullosa nails only (722436002); Nails only DEB (dystrophic epidermolysis bullosa) (722436002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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 recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015553
Orphanet: ORPHA158676

Definition

A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDystrophic epidermolysis bullosa, nails only

Recent clinical studies

Etiology

A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
Michalak A, Cichoż-Lach H, Prozorow-Król B, Buk L, Dzida M
BMC Gastroenterol 2018 Apr 13;18(1):47. doi: 10.1186/s12876-018-0771-5. PMID: 29653516Free PMC Article

Diagnosis

What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause.
Yang R, Duan Y, Kong Q, Li W, Xu J, Xia X, Sang H
J Dermatol 2020 Jul;47(7):782-786. Epub 2020 May 12 doi: 10.1111/1346-8138.15372. PMID: 32396230
A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
Michalak A, Cichoż-Lach H, Prozorow-Król B, Buk L, Dzida M
BMC Gastroenterol 2018 Apr 13;18(1):47. doi: 10.1186/s12876-018-0771-5. PMID: 29653516Free PMC Article
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
Guerra L, Condorelli AG, Fortugno P, Calabresi V, Pedicelli C, Di Zenzo G, Castiglia D
Acta Derm Venereol 2018 Apr 16;98(4):411-415. doi: 10.2340/00015555-2851. PMID: 29182795
Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.
Chen Q, Lee JS, Tey HL
Indian J Dermatol Venereol Leprol 2015 Jan-Feb;81(1):40-2. doi: 10.4103/0378-6323.148565. PMID: 25566895

Therapy

A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
Michalak A, Cichoż-Lach H, Prozorow-Król B, Buk L, Dzida M
BMC Gastroenterol 2018 Apr 13;18(1):47. doi: 10.1186/s12876-018-0771-5. PMID: 29653516Free PMC Article

Prognosis

A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
Michalak A, Cichoż-Lach H, Prozorow-Król B, Buk L, Dzida M
BMC Gastroenterol 2018 Apr 13;18(1):47. doi: 10.1186/s12876-018-0771-5. PMID: 29653516Free PMC Article

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