ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
8 signs/symptoms

Superficial epidermolytic ichthyosis

Ichthyosis hystrix of Curth-Macklin


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT2	(0.49)	KRT1

Citations in the biomedical literature:

Superficial epidermolytic ichthyosis		Ichthyosis hystrix of Curth-Macklin
	Synonym(s): - Ichthyosis bullosa of Siemens - SEI		Synonym(s): - Ichthyosis hystrix, Curth-Macklin type

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D053560		External references: 1 OMIM reference - 1 MeSH reference: C536088


COMMON SIGNS	- Autosomal dominant inheritance - Ichthyosis / ichthyosiform dermatitis

Superficial epidermolytic ichthyosis		Ichthyosis hystrix of Curth-Macklin
	Very frequent - Cutaneous edema - Palmoplantar hyperkeratosis / keratoderma - Positive Nikolski's sign / achantolysis - Thin skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Erythema / erythematous lesions / erythroderma / polymorphous erythema		Very frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures Frequent - Abnormal fingernails - Contractures / cramps / trismus / tetania / claudication / opisthotonos Occasional - Gangrena / necrosis