Palmoplantar Hyperkeratosis (palmoplantar + hyperkeratosi)

Distribution by Scientific Domains


Selected Abstracts


Palmoplantar hyperkeratosis in Irish terriers: evidence of autosomal recessive inheritance

JOURNAL OF SMALL ANIMAL PRACTICE, Issue 2 2000
H. Binder
An abnormal development of the epidermis of the footpad was observed in Irish terriers. At the age of six months, the affected animals developed smooth parchment-like footpads. The pad epidermis then hardened and grew lateral cone-like protrusions of up to 5 mm in diameter. Fissures and cracks developed and these predisposed the animal to secondary infection. The repeated occurrence in subsequent generations led to the assumption of a hereditary form of hyperkeratosis. Evidence for an autosomal recessive mode of inheritance was derived from a retrospective analysis of the breeder's records. The clinical, histopathological and ultrastructural features of the disease are presented and the genetic transmission and its implications discussed. [source]


Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome

HUMAN MUTATION, Issue 1 2002
Y. Zhang
Abstract Papillon Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe periodontitis. The disease is caused by mutations in the cathepsin C gene (CTSC) that maps to chromosome 11q14. CTSC gene mutations associated with PLS have been correlated with significantly decreased enzyme activity. Mutational analysis of the CTSC gene in three North American families segregating PLS identified four mutations, including a novel mutation p.G139R. All mutations were associated with dramatically reduced CTSC protease enzyme activity. A homozygous c.96T>G transversion resulting in a p.Y32X change was present in a Mexican PLS proband, while one Caucasian PLS proband was a compound heterozygote for the p.Y32X and p.R272P (c.815G>C) mutations. The other Caucasian PLS proband was a compound heterozygote for c.415G>A transition and c.1141delC mutations that resulted in a p.G139R and a frameshift and premature termination (p.L381fsX393), respectively. The c.415G>A was not present in more than 300 controls, suggesting it is not a CTSC polymorphism. Biochemical analysis demonstrated almost no detectable CTSC activity in leukocytes of all three probands. These mutations altered restriction enzyme sites in the highly conserved CTSC gene. Sequence analysis of CTSC exon 3 confirmed the previously reported p.T153I polymorphism in 4 of the 5 ethnically diverse populations studied. © 2002 Wiley-Liss, Inc. [source]


A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 3 2009
B. K. Goh
Summary We report a patient of Malay ancestry with dermatopathia pigmentosa reticularis (DPR) resulting from a recurrent KRT14 p.R125C mutation. The patient has reticulate hyperpigmentation over his trunk and proximal limbs, together with onychodystrophy. Despite the absence of noncicatricial alopecia, he has acral nonscarring blisters, palmoplantar hyperkeratosis and hypoplastic dermatoglyphics, in addition to unusual abnormalities such as wiry scalp hair and digital fibromatous thickening. [source]


Retrospective diagnosis of Kindler syndrome in a 37-year-old man

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 1 2006
M. A. Thomson
Summary Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years. [source]