eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | keratoderma hereditarium mutilans |
| Comorbidity | C0020757|ichthyosis |
| Sentences | 2 |
| PubMedID- 20236940 | We generated stable hacat cell lines that express wild-type (wt) loricrin and a mutant form found in vohwinkel syndrome with ichthyosis, using an ecdysone-inducible promoter system. |
| PubMedID- 25142840 | This established a diagnosis of loricrin keratoderma (previously known as vohwinkel syndrome with ichthyosis, or vohwinkel syndrome variant), distinct from classical vohwinkel syndrome by the co-occurrence of generalized ichthyosis and the absence of hearing loss.5 the two conditions are genotypically distinct, with vohwinkel syndrome due to mutations in gjb2 and vohwinkel with ichthyosis due to mutations in lor.6 the occurrence of constrictive digital bands leading to autoamputation is variably reported to be a feature of the variant form, but was not present in this family. |
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