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Epidermolysis bullosa simplex with migratory circinate erythema

MedGen UID:
324475
Concept ID:
C1836284
Disease or Syndrome
Synonyms: EBS-migr
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): KRT5 (12q13.13)
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 cases) that results in nonscarring blisters caused by little or no trauma. The current classification of epidermolysis bullosa (EB) includes two major types and 12 minor subtypes of EBS; all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The four most common subtypes of EBS are the focus of this GeneReview: EBS, localized (EBS-loc; previously known as Weber-Cockayne type). EBS, Dowling-Meara type (EBS-DM). EBS, other generalized (EBS, gen-nonDM; previously known as Koebner type). EBS-with mottled pigmentation (EBS-MP) . The phenotypes for these subtypes range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. In EBS-loc, blisters are rarely present or minimal at birth and may occur on the knees and shins with crawling or on the feet at approximately age18 months; some individuals manifest the disease in adolescence or early adulthood. Blisters are usually confined to the hands and feet, but can occur anywhere if trauma is significant. In EBS, gen-non DM, blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-DM. In EBS-MP, skin fragility is evident at birth and clinically indistinguishable from EBS-DM; over time, progressive brown pigmentation interspersed with hypopigmented spots develops on the trunk and extremities, with the pigmentation disappearing in adult life. Focal palmar and plantar hyperkeratoses may occur. In EBS-DM, onset is usually at birth; severity varies greatly, both within and among families. Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. EBS-DM appears to improve with warmth in some individuals. Progressive hyperkeratosis of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy and milia are common. Both hyper- and hypopigmentation can occur. Mucosal involvement in EBS-DM may interfere with feeding. Blistering can be severe enough to result in neonatal or infant death. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ellen G Pfendner  |  Anna L Bruckner   view full author information

Clinical features

Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality in the formation or distribution of pigment, especially in the skin.
Skin rash
MedGen UID:
504676
Concept ID:
CN000925
Finding
A red eruption of the skin.
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
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.

Recent clinical studies

Diagnosis

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

Prognosis

Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y
J Invest Dermatol 2003 Sep;121(3):482-5. doi: 10.1046/j.1523-1747.2003.12424.x. PMID: 12925204

Clinical prediction guides

Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y
J Invest Dermatol 2003 Sep;121(3):482-5. doi: 10.1046/j.1523-1747.2003.12424.x. PMID: 12925204

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