Epidermolysis bullosa simplex with migratory circinate erythema(EBS2E)

MedGen UID:: 324475
•Concept ID:: C1836284
•: Disease or Syndrome

Synonyms:	EBS-migr; Epidermolysis bullosa simplex 2E, with migratory circinate erythema
SNOMED CT:	Epidermolysis bullosa simplex with circinate migratory erythema (716700003)
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): Gene(s) directly associated with this condition or phenotype.	KRT5 (12q13.13)

Monarch Initiative:	MONDO:0012258
OMIM®:	609352
Orphanet:	ORPHA158681

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
Epidermolysis bullosa simplex 2E with migratory circinate erythema (EBS2E) is a skin disorder in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern (summary by Has et al., 2020). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). http://www.omim.org/entry/609352

Clinical features

From HPO

Erythema migrans

MedGen UID:: 4526
•Concept ID:: C0014740
•: Disease or Syndrome

An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).

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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.

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Intra-epidermal blistering

MedGen UID:: 1779880
•Concept ID:: C5539821
•: Finding

A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.

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Abnormality of the integument

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEpidermolysis bullosa simplex with migratory circinate erythema

Epidermolysis bullosa simplex without extracutaneous involvement
- Epidermolysis bullosa simplex with migratory circinate erythema

Follow this link to review classifications for Epidermolysis bullosa simplex with migratory circinate erythema in Orphanet.

Recent clinical studies

Diagnosis

T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.

Castiglia D, El Hachem M, Diociaiuti A, Carbone T, De Luca N, Pascucci M, Zambruno G, Cavani A
Acta Derm Venereol 2014 May;94(3):307-11. doi: 10.2340/00015555-1691. PMID: 24104543

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