Elastosis Perforans Serpiginosa

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

DRD2, SLC6A3, CYP2D6, MYH9, PSEN1, TLR4, ELN, RBP4, MTOR, COMT, MAPK1, MAPK3, PRKCA, PRKACG, PLA2G4A, PIK3CG, RELA, RGS2, ATXN2, PTH, SYT1, SLC18A2, SOD1, SERPINE1, TGFB1, TNF, VEGFA, PDPN, POSTN, PLCB1, SIRT1, DISC1, CLEC7A, GORASP1, PIK3CA, ACHE, PAEP, NOS2, ACTG1, APOE, BRCA2, BSG, CD2, COL1A1, CRP, CCN2, DRD3, EPHB2, FANCD2, FASN, FOXM1, GNAS, GRIK3, HTR2A, IL6, IL10, INSR, ITPR1, LEP, CYP4F3, LY6E, LYZ, MAOB, ATXN3, ACTB, WNK1

Drugs

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This condition occurs in the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and Down syndrome. In addition, it probably occurs as an isolated genetic trait of which the inheritance may be dominant. Langeveld-Wildschut et al. (1993) described the disorder in 2 sisters and a brother. The father and 3 paternal uncles were probably affected also. Langeveld-Wildschut et al. (1993) found reports of 5 families with a total of 15 affected persons. Of these, the cases were in 1 generation in 3 families (e.g., Klein and Newcomer, 1975) and in more than 1 generation in 2 (e.g., Obermayer and Shea, 1968).