Elastoderma

An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically ocurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
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PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000973 Cutis laxa Obligate (100%)
HP:0100678 Premature skin wrinkling Very frequent (99-80%)
HP:0200034 Papule Very frequent (99-80%)
HP:0200036 Skin nodule Very frequent (99-80%)
HP:0100963 Hyperesthesia Frequent (79-30%)
HP:0000964 Eczema Occasional (29-5%)
HP:0001055 Erysipelas Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID