Disease relevance of Keratoderma, Palmoplantar

• Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer [1].
• Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis [2].
• A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma [3].
• N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma [4].
• The locus for a syndrome of focal palmoplantar keratoderma (Tylosis) associated with squamous cell oesophageal cancer (TOC) has been mapped to chromosome 17q25, a region frequently deleted in sporadic squamous cell oesophageal tumours [5].

High impact information on Keratoderma, Palmoplantar

• Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) [6].
• Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) [7].
• Previously we mapped the genetic locus for the triad of autosomal recessive ARVC, palmoplantar keratoderma, and woolly hair (Naxos disease) to chromosome 17q21, in which the gene for plakoglobin is encoded [7].
• Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/woolly hair syndrome, Naxos-like disease, and Carvajal syndrome [8].
• This further implicates loricrin defects in the pathogenesis of disorders with palmoplantar keratoderma and pseudoainhum [9].

Chemical compound and disease context of Keratoderma, Palmoplantar

• The content of the free fatty acids and the fatty acids of triacylglycerols has been measured in human plantar stratum corneum from normal and hyperkeratotic subjects with palmoplantar keratoderma [10].
• A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma [11].
• A recent familial case of hereditary epidermolytic palmoplantar keratoderma (Vörner type) that was treated with orally administered etretinate is reported herein [12].
• Topical calcipotriol in the treatment of epidermolytic palmoplantar keratoderma of Vörner [13].
• Venlafaxine-associated psoriasiform palmoplantar keratoderma and subungual hyperkeratosis [14].

Biological context of Keratoderma, Palmoplantar

• Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma [15].
• Genetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutations in the desmosomal proteins desmoplakin and desmoglein 1 [15].
• Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21 [16].
• Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma [17].
• Linkage analysis of two large consanguineous families from Algeria, including 10 affected individuals, showed strong evidence for localisation of Meleda disease to chromosome 8qter with a maximum two-point lod score for D8S1751 of 8.21 at theta = 0 [18].

Anatomical context of Keratoderma, Palmoplantar

• Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant disorder in which hyperkeratosis confined to the palms and soles is characterized histologically by cytolysis of suprabasal keratinocytes [19].
• Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network [20].

Gene context of Keratoderma, Palmoplantar

• Similar clumping of suprabasal keratins in bullous CIE Brocq and in palmoplantar keratoderma Voerner have been assigned to identical types of mutations in the same critical position of the rod domain in K 1, K 10, and K 9, respectively [21].
• Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome [22].
• Dominant mutations in the DSG1 gene causing striate palmoplantar keratoderma result in hyperkeratosis of the skin on the parts of the body where pressure and abrasion are greatest, viz., on the palms and soles [23].
• Papillon-Lefèvre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations [24].
• Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families [25].

Analytical, diagnostic and therapeutic context of Keratoderma, Palmoplantar

• Improvement of palmoplantar keratoderma of nonhereditary type (eczema tyloticum) after oral administration of 1 alpha,25-dihydroxyvitamin D3 [26].
• A 49-year-old man electively chose to undergo a trial of intravenous chemotherapy with 5-fluorouracil (5-FU) for his inherited punctate palmoplantar keratoderma (PPK) [27].

References