| ichthyosis hystrix van Curth-Macklin (aandoening) | | ichthyosis hystrix van Curth-Macklin | | Ichthyosis hystrix of Curth-Macklin | | A rare type of keratinopathic ichthyosis characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or gray color, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift 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. Transmission is autosomal dominant but some sporadic cases have been reported. |
| | Id | 254170001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q80.8 | | Term | Overige gespecificeerde vormen van congenitale ichthyose |
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| SNOMED CT to Orphanet simple map | 79503 |
| SNOMED CT to ICD-10 extended map | | Target | Q80.8 | | Rule | TRUE | | Advice | ALWAYS Q80.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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