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Epidermolysis bullosa simplex with circinate migratory erythema

1 OMIM reference -
1 associated gene
55 connected diseases
4 signs/symptoms

Disease	Type of connection
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Dowling-Degos disease
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Keratosis palmoplantaris striata
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Congenital analbuminemia
EEC syndrome
Fibronectin glomerulopathy
Limb-mammary syndrome
Split hand-split foot malformation
Autosomal recessive epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Naegeli-Franceschetti-Jadassohn syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Spinocerebellar ataxia type 12
X-linked agammaglobulinemia
Congenital non-bullous ichthyosiform erythroderma
Lamellar ichthyosis
Self-healing collodion baby
APC-related attenuated familial adenomatous polyposis
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Dedifferentiated liposarcoma
Desmoid tumor
Epidermolysis bullosa simplex due to plakophilin deficiency
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Giant cell glioblastoma
Gliosarcoma
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Pseudohypoaldosteronism type 2E
Richieri Costa-Pereira syndrome
Senior-Loken syndrome
Turcot syndrome with polyposis
Well-differentiated liposarcoma
Idiopathic pulmonary fibrosis
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Ichthyosis hystrix of Curth-Macklin
Meesmann corneal dystrophy

Synonym(s): - EBS-migr

Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
KRT5	P13647	148040

Very frequent

- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment