Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression

Andrea Codispori, Enrico Colombo, Loredana Zocchi, Valeria Serra, Cinevra Pertusi, Giorgio Leigheb, Rossana Tilberio, Guido Bornacina, Riceardo Zuccoli, Antonio Ramponi, Elena Campione, Gerry Melino, Alessandro Terrinoni

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Epidermolytic PalmoPlantar keratoderma (EPPK) Vömer-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. To date, a number of KRT9 mutations have been detected, most of which affect the highly conserved 1A region of the central alpha-helical domain, important for keratin heterodirnerization. The most common mutation is the substitution of the arginine in posi-tion 163 with a tryptophan (Rl63W), which has been reported in North American, European, and Japanese populations. In a small num-ber of cases, EPPK is associated with knuckle pad keratosis, but no correlation between this additional phenotype and a specific mutation has been found. Moreover, K9 is not normally expressed in knuckle skin, raising the question of the pathogenic mechanism leading to this additional phenotype. Here we show that in a family affected by EPPK and knuckle pad keratosis, carrying the R163 W substitution, wild type (wt) and mutated K9 are strongly expressed in knuckle pads. These results suggest that the knuckle pad phenotype is due to ectopical expression of K9.

Original languageEnglish
Pages (from-to)114-118
Number of pages5
JournalEuropean Journal of Dermatology
Volume19
Issue number2
Publication statusPublished - Mar 2009

Fingerprint

Keratin-9
Palmoplantar Keratoderma
Keratoderma, Palmoplantar, Epidermolytic
Keratins
Keratosis
Mutation
Phenotype
Skin Diseases
Tryptophan
Arginine
Skin
Population
Genes

Keywords

  • Epidermolytic palmoplanar keratoderma
  • Keratin 9
  • Keratin diseases
  • Knuckle pads
  • Rl63W mutation

ASJC Scopus subject areas

  • Dermatology

Cite this

Codispori, A., Colombo, E., Zocchi, L., Serra, V., Pertusi, C., Leigheb, G., ... Terrinoni, A. (2009). Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression. European Journal of Dermatology, 19(2), 114-118.

Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression. / Codispori, Andrea; Colombo, Enrico; Zocchi, Loredana; Serra, Valeria; Pertusi, Cinevra; Leigheb, Giorgio; Tilberio, Rossana; Bornacina, Guido; Zuccoli, Riceardo; Ramponi, Antonio; Campione, Elena; Melino, Gerry; Terrinoni, Alessandro.

In: European Journal of Dermatology, Vol. 19, No. 2, 03.2009, p. 114-118.

Research output: Contribution to journalArticle

Codispori, A, Colombo, E, Zocchi, L, Serra, V, Pertusi, C, Leigheb, G, Tilberio, R, Bornacina, G, Zuccoli, R, Ramponi, A, Campione, E, Melino, G & Terrinoni, A 2009, 'Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression', European Journal of Dermatology, vol. 19, no. 2, pp. 114-118.
Codispori A, Colombo E, Zocchi L, Serra V, Pertusi C, Leigheb G et al. Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression. European Journal of Dermatology. 2009 Mar;19(2):114-118.
Codispori, Andrea ; Colombo, Enrico ; Zocchi, Loredana ; Serra, Valeria ; Pertusi, Cinevra ; Leigheb, Giorgio ; Tilberio, Rossana ; Bornacina, Guido ; Zuccoli, Riceardo ; Ramponi, Antonio ; Campione, Elena ; Melino, Gerry ; Terrinoni, Alessandro. / Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression. In: European Journal of Dermatology. 2009 ; Vol. 19, No. 2. pp. 114-118.
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abstract = "Epidermolytic PalmoPlantar keratoderma (EPPK) V{\"o}mer-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. To date, a number of KRT9 mutations have been detected, most of which affect the highly conserved 1A region of the central alpha-helical domain, important for keratin heterodirnerization. The most common mutation is the substitution of the arginine in posi-tion 163 with a tryptophan (Rl63W), which has been reported in North American, European, and Japanese populations. In a small num-ber of cases, EPPK is associated with knuckle pad keratosis, but no correlation between this additional phenotype and a specific mutation has been found. Moreover, K9 is not normally expressed in knuckle skin, raising the question of the pathogenic mechanism leading to this additional phenotype. Here we show that in a family affected by EPPK and knuckle pad keratosis, carrying the R163 W substitution, wild type (wt) and mutated K9 are strongly expressed in knuckle pads. These results suggest that the knuckle pad phenotype is due to ectopical expression of K9.",
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