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Epidermolysis bullosa simplex with mottled pigmentation

1 OMIM reference -
2 associated genes
65 connected diseases
10 signs/symptoms

Disease	Type of connection
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Autosomal recessive epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Naegeli-Franceschetti-Jadassohn syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Congenital analbuminemia
Epidermolysis bullosa simplex due to plakophilin deficiency
Spinocerebellar ataxia type 12
Dedifferentiated liposarcoma
Richieri Costa-Pereira syndrome
Well-differentiated liposarcoma
APC-related attenuated familial adenomatous polyposis
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Desmoid tumor
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
Senior-Loken syndrome
Turcot syndrome with polyposis
Keratosis palmoplantaris striata
Meesmann corneal dystrophy
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Fibronectin glomerulopathy
Limb-mammary syndrome
Split hand-split foot malformation
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Congenital non-bullous ichthyosiform erythroderma
Lamellar ichthyosis
Self-healing collodion baby
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
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

Synonym(s): - EBS-MP

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: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - 1 MeSH reference: C535959

Gene symbol	UniProt reference	OMIM reference
KRT14	P02533	148066
KRT5	P13647	148040

Very frequent

- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent

- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing