Epidermolysis bullosa simplex, Dowling-Meara type
Alternate names[edit | edit source]
EBS-DM; Dowling-Meara type epidermolysis bullosa simplex; Epidermolysis bullosa herpetiformis, Dowling-Meara type; Epidermolysis bullosa simplex, herpetiformis
Definition[edit | edit source]
Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
Epidemiology[edit | edit source]
Worldwide prevalence is unknown but reported prevalence in Scotland is 1/1,700,000.
Cause[edit | edit source]
EBS-DM is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively.
Inheritance[edit | edit source]
Transmission is autosomal dominant and sporadic cases are frequent.
Onset[edit | edit source]
Onset is usually at birth with large, frequently hemorrhagic blisters.
Signs and symptoms[edit | edit source]
- After the neonatal period, the lesions take the typical herpetiform (or herpes-like) clustering with central healing pattern.
- Blister formation gradually reduces starting from late childhood.
- By childhood, most patients begin to develop confluent thickening and hyperkeratosis (keratoderma) of the palms and soles which may partially resolve in some patients during mid- to late-adulthood.
- Along with blisters, skin findings commonly include mild atrophic scarring and post-inflammatory pigmentation, nail shedding and nail dystrophy, as well as occasional milia formation.
- Lesions may improve in some patients in case of fever, unlike other forms of EB in which warmer weather exacerbates disease activity. The reason for this is unknown.
- Extracutaneous complications can occur including oral cavity blistering, constipation and, rarely, tracheolaryngeal compromise.
Diagnosis[edit | edit source]
The diagnosis of epidermolysis bullosa simplex (EBS) is established in a proband by the identification of heterozygous (or rarely biallelic) pathogenic variants in KRT5 or KRT14 by molecular genetic testing; examination of a skin biopsy using immunofluorescence microscopy and transmission electron microscopy may be considered but can have limitations in the diagnosis of EBS.[1][1].
Treatment[edit | edit source]
- Supportive care to protect the skin from blistering; use of dressings that will not further damage the skin and will promote healing of open wounds.
- Lance and drain new blisters.
- Dressings involve three layers: a primary nonadherent contact layer; a secondary layer providing stability, adding padding, and absorbing drainage; and a tertiary layer with elastic properties.[2][2].
References[edit | edit source]
- ↑ Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
- ↑ Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
NIH genetic and rare disease info[edit source]
Epidermolysis bullosa simplex, Dowling-Meara type is a rare disease.
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