eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | woolly hair |
| Comorbidity | C0878544|cardiomyopathy |
| Sentences | 4 |
| PubMedID- 21592926 | Naxos-carvajal disease: a rare cause of cardiomyopathy with woolly hair and palmoplantar hyperkeratosis. |
| PubMedID- 21193976 | Pediatricians need to be aware of this clinical entity whenever arrhythmogenic dilated cardiomyopathy is associated with woolly hair and/or palmoplantar keratoderma. |
| PubMedID- 21789513 | Both show an association of cardiomyopathy with woolly hair and palmoplantar keratoderma. |
| PubMedID- 23108156 | In addition a number of genodermatoses are caused by mutations in desmosomal genes (reviewed in 29), including the autosomal recessive disorders: skin fragility/ectodermal dysplasia syndrome (pkp1) (30), lethal congenital epidermolysis bullosa (jup) (31), skin fragility-woolly hair with or without cardiomyopathy (dsp) (32) and lethal acantholytic epidermolysis bullosa (dsp) (33). |
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