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 C1840296 |
| MeSH: |
C536088 |
| MedDRA: |
|
| Snomed: |
254170001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Keratinopathic ichthyosis
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(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. ... |