KEGG   DISEASE: Porokeratosis
Entry
H01933                      Disease                                

Name
Porokeratosis
Description
Porokeratosis is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella, a column of tightly fitted parakeratotic cells. According to the number, size, and distribution of the lesions the following clinical forms of PK have been described; classic porokeratosis of Mibelli (PM), disseminated superficial porokeratosis (DSP), disseminated superficial actinic porokeratosis (DSAP), punctate porokeratosis (PP), porokeratosis palmaris et plantaris disseminata (PPPD), and linear porokeratosis (LP).
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H01933  Porokeratosis
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the epidermis and epidermal appendages
    Disorders of epidermal keratinisation
     ED52  Porokeratoses
      H01933  Porokeratosis
Pathway
hsa00900 Terpenoid backbone biosynthesis   
Gene
(POROK1) PMVK [HSA:10654] [KO:K13273]
(POROK3) MVK [HSA:4598] [KO:K00869]
(POROK7) MVD [HSA:4597] [KO:K01597]
(POROK8) SLC17A9 [HSA:63910] [KO:K12303]
(POROK9) FDPS [HSA:2224] [KO:K00787]
Other DBs
ICD-11: ED52
ICD-10: Q82.8
MeSH: D017499
OMIM: 175800 175900 614714 616063 616631
Reference
  Authors
Sertznig P, von Felbert V, Megahed M
  Title
Porokeratosis: present concepts.
  Journal
J Eur Acad Dermatol Venereol 26:404-12 (2012)
DOI:10.1111/j.1468-3083.2011.04275.x
Reference
  Authors
Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z
  Title
Genomic variations of the mevalonate pathway in porokeratosis.
  Journal
Elife 4:e06322 (2015)
DOI:10.7554/eLife.06322
Reference
  Authors
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ
  Title
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
  Journal
Nat Genet 44:1156-60 (2012)
DOI:10.1038/ng.2409
Reference
  Authors
Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, Sun L, Yang S, Cui Y, Zhang X
  Title
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
  Journal
J Med Genet 51:699-704 (2014)
DOI:10.1136/jmedgenet-2014-102486
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