MCID: ICH046
MIFTS: 21

Ichthyosis Histrix, Curth-Macklin Type

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Histrix, Curth-Macklin Type

MalaCards integrated aliases for Ichthyosis Histrix, Curth-Macklin Type:

Name: Ichthyosis Histrix, Curth-Macklin Type 54 13
Ichthyosis Hystrix, Curth Macklin Type 50 29 69
Ichthyosis Hystrix, Curth-Macklin Type 56 71
Ihcm 50 71
Curth-Macklin Type Ichthyosis Hystrix 50
Ichthyosis Hystrix of Curth-Macklin 56

Characteristics:

Orphanet epidemiological data:

56
ichthyosis hystrix of curth-macklin
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ichthyosis histrix, curth-macklin type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 146590
Orphanet 56 ORPHA79503
MESH via Orphanet 43 C536088
UMLS via Orphanet 70 C1840296 C0432307
ICD10 via Orphanet 34 Q80.8
MedGen 40 C1840296
MeSH 42 D007057

Summaries for Ichthyosis Histrix, Curth-Macklin Type

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79503disease definitionichthyosis hystrix of curth-macklin (ihcm) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (ppk, see this term).epidemiologyprevalence is unknown. six families and sporadic cases have been reported to date.clinical descriptionthe skin is usually normal at birth. the disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey color, and of spiky, cobblestone-like (hystrix) or verrucous appearance. hyperkeratosis is often diffuse and more pronounced on extensor areas of the limbs, extremities and the trunk. lesions may also be nevoid following the lines of blaschko. patients are also affected with striate or diffuse ppk. as the disease progresses, ppk worsens and results in deep bleeding, painful fissures and cracks. in severe cases, ppk can also lead to contractures, gangrene and loss of digits. the skin is malodorous and frequently infected. nail dystrophy may be present. contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present.etiologyihcm results from heterozygousframeshift mutation in a section of the krt1 gene encoding keratin 1 (k1). these mutations lead to an abnormal supramolecular organization of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus.diagnostic methodsdiagnosis is based on clinical examination and on histological examination of skin lesion biopsies revealing papillomatous hyperplasia with hyperorthokeratosis and hypergranulosis. electron microscopy shows keratin intermediate filaments forming continuous perinuclear shells, presence of perinuclear vacuoles and binucleate keratinocytes.differential diagnosisdifferential diagnosis includes other forms of keratinopathic ichthyosis such as epidermolytic ichthyosis, as well as epidermolytic palmoplantar keratoderma, erythrokeratodermia variabilis, and kid syndrome (see these terms).antenatal diagnosismolecular prenatal diagnosis is available for affected families.genetic counselingtransmission is autosomal dominant but some sporadic cases have been reported. the risk for an affected parent to have an affected child is of 50%.management and treatmentmanagement is symptomatic and life-long. oral and systemic keratolytics can improve localized hyperkeratotic lesions by exfoliating and increasing the moisture of the skin.prognosislife expectancy is normal. however, the unaesthetic and malodorous aspects of the skin, the pain and bleeding related to ppk, and infections lead to functional disabilities and a greatly reduced quality of life.visit the orphanet disease page for more resources. last updated: 12/1/2012

MalaCards based summary : Ichthyosis Histrix, Curth-Macklin Type, also known as ichthyosis hystrix, curth macklin type, is related to ichthyosis, and has symptoms including ichthyosis, recurrent skin infections and nail dystrophy. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Ichthyosis hystrix, Curth-Macklin type: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.

OMIM : 54
Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior (146600), only rudimentary tonofilaments are found with compensatory production of mucous granules. (146590)

Related Diseases for Ichthyosis Histrix, Curth-Macklin Type

Diseases related to Ichthyosis Histrix, Curth-Macklin Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ichthyosis 10.6

Symptoms & Phenotypes for Ichthyosis Histrix, Curth-Macklin Type

Symptoms via clinical synopsis from OMIM:

54

Skin:
ichthyosis hystrix

Lab:
abnormal tonofibrils with formation of concentric unbroken shells of tonofilaments surrounding the nucleus on em


Clinical features from OMIM:

146590

Human phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 recurrent skin infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0001581
3 nail dystrophy 56 32 frequent (33%) Frequent (79-30%) HP:0008404
4 diffuse palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0007435
5 autoamputation of digits 56 32 occasional (7.5%) Occasional (29-5%) HP:0007460
6 flexion contracture 56 32 frequent (33%) Frequent (79-30%) HP:0001371
7 bleeding with minor or no trauma 56 32 occasional (7.5%) Occasional (29-5%) HP:0011889
8 hyperkeratosis 56 Very frequent (99-80%)
9 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Ichthyosis Histrix, Curth-Macklin Type

Search Clinical Trials , NIH Clinical Center for Ichthyosis Histrix, Curth-Macklin Type

Genetic Tests for Ichthyosis Histrix, Curth-Macklin Type

Genetic tests related to Ichthyosis Histrix, Curth-Macklin Type:

id Genetic test Affiliating Genes
1 Ichthyosis Hystrix, Curth Macklin Type 29

Anatomical Context for Ichthyosis Histrix, Curth-Macklin Type

MalaCards organs/tissues related to Ichthyosis Histrix, Curth-Macklin Type:

39
Skin

Publications for Ichthyosis Histrix, Curth-Macklin Type

Variations for Ichthyosis Histrix, Curth-Macklin Type

ClinVar genetic disease variations for Ichthyosis Histrix, Curth-Macklin Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 NM_006121.3(KRT1): c.1609_1610delGGinsA (p.Gly537Ilefs) indel Pathogenic rs59169454 GRCh37 Chromosome 12, 53069302: 53069303

Expression for Ichthyosis Histrix, Curth-Macklin Type

Search GEO for disease gene expression data for Ichthyosis Histrix, Curth-Macklin Type.

Pathways for Ichthyosis Histrix, Curth-Macklin Type

GO Terms for Ichthyosis Histrix, Curth-Macklin Type

Sources for Ichthyosis Histrix, Curth-Macklin Type

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70 UMLS via Orphanet
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