1/10. Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis.A 20-year-old female with cystic fibrosis presented with a white marginal palmar eruption after exposure to water. There was no family history of keratoderma. A biopsy showed hyperkeratosis around dilated eccrine ostia. These features are similar to a recently described condition, transient reactive papulotranslucent acrokeratoderma. This is thought to be a variant of hereditary papulotranslucent acrokeratoderma, one of the punctate keratodermas. association with cystic fibrosis has not been described previously.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/10. A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.We described a 5-year-old Japanese girl with epidermolytic palmoplantar keratoderma and examined her for a keratin 9 gene mutation. physical examination disclosed diffuse yellowish hyperkeratosis with an erythematous border limited strictly to the palms and soles. Histological examination revealed hyperkeratosis with vacuolar degeneration in the spinous and granular layers of the epidermis. sequence analysis demonstrated an A to G transition at the middle position of codon 160 in the 1A domain of the keratin 9 gene. The amino acid at codon 160 was deduced to have changed from asparagine (Asn) to serine (Ser). This is the first case with an Asn160Ser mutation in a Japanese. The substitution of Ser for Asn at codon 160 of the keratin 9 gene is assumed to be fatal for keratin filament assembly regardless of race or ethnicity.- - - - - - - - - - ranking = 6keywords = palm (Clic here for more details about this article) |
3/10. Papillon-Lefevre syndrome.Papillon- Lefevre syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition. The exact pathomechanism of these clinical events mainly remains speculative. This paper describes two cases of PLS with classic clinical features and briefly review the relevant literature.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/10. Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer-Buschke-Fischer syndrome).We describe the first case of a sixty-five-year-old male field worker from india, having lesions of hereditary punctate palmoplantar keratoderma with an autosomally dominant pattern of inheritance. Associations included nail abnormalities in the form of longitudinal ridging, onychorrhexis, onychoschizia, trachyonychia and notching, which has been reported only on one previous occasion. The article also presents a brief review of the literature.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/10. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.Mutations in the surfactant protein c gene (SFTPC) were recently reported in patients with interstitial lung disease. In a 13-month-old infant with severe respiratory insufficiency, a lung biopsy elicited combined histological patterns of nonspecific interstitial pneumonia and pulmonary alveolar proteinosis. Immunohistochemical and biochemical analyses showed an intra-alveolar accumulation of surfactant protein (SP)-A, precursors of SP-B, mature SP-B, aberrantly processed proSP-C, as well as mono- and dimeric SP-C. Sequencing of genomic dna detected a de novo heterozygous missense mutation of the SFTPC gene (g.1286T>C) resulting in a substitution of threonine for isoleucine (173T) in the C-terminal propeptide. At the ultrastructural level, abnormal transport vesicles were detected in type-II pneumocytes. Fusion proteins, consisting of enhanced green fluorescent protein and wild-type or mutant proSP-C, were used to evaluate protein trafficking in vitro. In contrast to wild-type proSP-C, mutant proSP-C was routed to early endosomes when transfected into A549 epithelial cells. In contrast to previously reported mutations, the 173T represents a new class of surfactant protein c gene mutations, which is marked by a distinct trafficking, processing, palmitoylation, and secretion of the mutant and wild-type surfactant protein c. This report heralds the emerging diversity of phenotypes associated with the expression of mutant surfactant C proteins.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
6/10. Naxos disease in saudi arabia.Naxos disease is an autosomal recessive genodermatosis characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. In this report we describe an early case of Naxos disease and we briefly review the literature of this disorder.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
7/10. Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.OBJECTIVE: Naxos disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. methods: This study was undertaken at King Fahad Hospital of the University, Al-Khobar, and the Medical University of Hannover, in the spring of 2003. Naxos disease has been encountered in a 2-year-old girl and her 30-year-old aunt of a Saudi Arab family. Deoxyribonucleic acid samples of this family were analyzed by polymerase chain-reaction (PCR) amplification of the respective region of the plakoglobin gene, and direct nucleotide sequencing of the PCR-products. Segregation analysis was performed employing the newly detected IVS11 22G/A polymorphism. RESULTS: Molecular genetic analysis of the dna sample of the child diagnosed with Naxos disease showed absence of the Pk2157del2 mutation. In addition, the segregation analysis revealed heterozygosity for IVS11 22G/A in the affected girl. CONCLUSION: Absence of the Pk2157del2 frameshift in the affected child proved that Naxos disease in this Saudi Arab family is not caused by the same mutation that was identified in the Greek families. Furthermore, heterozygosity for the IVS11 22G/A polymorphism provided evidence for exclusion of the plakoglobin gene in this consanguineous family.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/10. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles associated with histologic findings of hyperkeratosis and epidermolysis. Ultrastructurally, there is vacuolization of the cytoplasm and abnormal keratin filament network with tonofilament clumping. EPPK is caused by mutations in the keratin 9 gene (KRT9), which is expressed exclusively in suprabasal keratinocytes of palmoplantar epidermis. The mutation R162W is the most frequent keratin 9 alteration reported in patients from different geographical areas. We present three unrelated Italian families affected by EPPK in which we confirmed the presence of the R162W mutation, by RT-PCR analysis followed by sequencing of the KRT9 gene, in all affected members. The finding of the same mutation in all patients, together with the previous reports of the disease, strongly suggest that position 162 of the KRT9 gene represents a mutation "hot-spot", probably due to the peculiarity of the sequence.- - - - - - - - - - ranking = 7keywords = palm (Clic here for more details about this article) |
9/10. A case of Papillon-Lefevre syndrome associated with xanthogranulomatous pyelonephritis and hepatitis.Papillon-Lefevre syndrome (PLS) is an autosomally recessive palmoplantar keratoderma accompanied by psoriasiform plaques on the extensor surfaces of extremities and leading to premature loss of deciduous and permanent teeth by progressive periodontitis. patients with PLS may exhibit mental retardation, intracranial ectopic calcifications, nail dystrophies and a tendency to various infectious disorders, in addition to skin and oral findings. Herein, we report a 26-year-old man with PLS, who had experienced xanthogranulomatous pyelonephritis and hepatitis during childhood and adolescence. To the best of our knowledge, this is the first report of PLS associated with xanthogranulomatous inflammation.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/10. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.BACKGROUND: Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles and/or palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. observation: We have identified a patient with a focal non-striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister. CONCLUSION: Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
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