Punctate palmoplantar keratoderma

Definition:

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.

References:

[1]. Bi-Rong Guo, et al. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012 Sep;49(9):563-8. [Content Brief]

[2]. Elizabeth Pohler, et al. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012 Nov;44(11):1272-6. [Content Brief]

[3]. Kathrin A Giehl, et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012 Oct 5;91(4):754-9. [Content Brief]

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