KEGG   DISEASE: Punctate palmoplantar keratodermaHelp
H01404                      Disease                                

Punctate palmoplantar keratoderma
Brauer-Buschke-Fischer disease
Porokeratosis punctata palmaris et plantaris
Palmoplantar keratoderma [DS:H01673]
Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified into 3 types; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP3 (Acrokeratoelastoidosis lichenoides). PPKP has previously been mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H01404  Punctate palmoplantar keratoderma
BRITE hierarchy
(PPKP1A) AAGAB [HSA:79719]
(PPKP1B) COL14A1 [HSA:7373] [KO:K08133]
Other DBs
ICD-10: Q82.8
MeSH: C536161 C535653
OMIM: 148600 614936 175860 101850
Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Am J Hum Genet 91:754-9 (2012)
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Nat Genet 44:1272-6 (2012)
Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
J Med Genet 49:563-8 (2012)

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