Ichthyosis hystrix of Curth-Macklin

General Information (adopted from Orphanet):

Synonyms, Signs: IHCM
Ichthyosis hystrix, Curth-Macklin type
Number of Symptoms 11
OrphanetNr: 79503
OMIM Id: 146590
ICD-10: Q80.8
UMLs: C0432307
MeSH: C536088
Snomed: 254170001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
Age of onset: Childhood

Disease classification (adopted from Orphanet):

Parent Diseases: Keratinopathic ichthyosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

(HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
(HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
(HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
(HPO:0100758) Gangrene Occasional [Orphanet] 25 / 7739
(HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
(OMIM) Abnormal tonofibrils with formation of concentric unbroken shells of tonofilaments surrounding the nucleus on EM 1 / 7739
(OMIM) Ichthyosis hystrix 2 / 7739
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM This form of ichthyosis was first reported by Curth and Macklin (1954) and was restudied by Ollendorff-Curth et al. (1972) and Anton-Lamprecht et al. (1973). An abnormality of tonofibrils is demonstrated by electron microscopy, namely, formation of concentric ...
Molecular genetics OMIM In affected members of a 3-generation family with IHCM showing linkage to chromosome 12q, Sprecher et al. (2001) identified a 5191GG-A mutation in the KRT1 gene (139350.0013) leading to a frameshift and premature termination codon 229 bp downstream. ...