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 language | English |
|---|---|
| Pages (from-to) | 114-118 |
| Number of pages | 5 |
| Journal | European Journal of Dermatology |
| Volume | 19 |
| Issue number | 2 |
| Publication status | Published - Mar 2009 |
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Keywords
- Epidermolytic palmoplanar keratoderma
- Keratin 9
- Keratin diseases
- Knuckle pads
- Rl63W mutation
ASJC Scopus subject areas
- Dermatology
Cite this
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 journal › Article
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TY - JOUR
T1 - Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 Rl 63W transgrediens expression
AU - Codispori, Andrea
AU - Colombo, Enrico
AU - Zocchi, Loredana
AU - Serra, Valeria
AU - Pertusi, Cinevra
AU - Leigheb, Giorgio
AU - Tilberio, Rossana
AU - Bornacina, Guido
AU - Zuccoli, Riceardo
AU - Ramponi, Antonio
AU - Campione, Elena
AU - Melino, Gerry
AU - Terrinoni, Alessandro
PY - 2009/3
Y1 - 2009/3
N2 - 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.
AB - 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.
KW - Epidermolytic palmoplanar keratoderma
KW - Keratin 9
KW - Keratin diseases
KW - Knuckle pads
KW - Rl63W mutation
UR - http://www.scopus.com/inward/record.url?scp=65449122406&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=65449122406&partnerID=8YFLogxK
M3 - Article
C2 - 19106041
AN - SCOPUS:65449122406
VL - 19
SP - 114
EP - 118
JO - European Journal of Dermatology
JF - European Journal of Dermatology
SN - 1167-1122
IS - 2
ER -