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Ichthyosis hystrix of Curth-Macklin

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

Disease	Type of connection
Keratosis palmoplantaris striata
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Fanconi anemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Idiopathic pulmonary fibrosis
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Familial gastric cancer
Gastric linitis plastica
Congenital high-molecular-weight kininogen deficiency
Exfoliative ichthyosis
Keratoderma hereditarium mutilans with ichthyosis
Progressive symmetric erythrokeratodermia
APC-related attenuated familial adenomatous polyposis
Apolipoprotein A-I deficiency
Congenital analbuminemia
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial renal amyloidosis due to Apolipoprotein AI variant
Fibronectin glomerulopathy
Gardner syndrome
Primary systemic amyloidosis
Richieri Costa-Pereira syndrome
Turcot syndrome with polyposis
Spinocerebellar ataxia type 12
Autosomal agammaglobulinemia
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Estrogen resistance 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
Congenital factor XII deficiency
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hereditary angioedema type 3
Localized epidermolysis bullosa simplex
Congenital reticular ichthyosiform erythroderma
Superficial epidermolytic ichthyosis

Synonym(s): - Ichthyosis hystrix, Curth-Macklin type

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

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: C536088

Gene symbol	UniProt reference	OMIM reference
KRT1	P04264	139350

Very frequent

- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis

Frequent

- Abnormal fingernails
- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Occasional

- Gangrena / necrosis