Prevalence and risk factors of clinical diabetic polyneuropathy in a Portuguese primary health care population. (9/170)

OBJECTIVE: Distal symmetrical polyneuropathy in diabetics (DPN) has a variable prevalence around 30% and increases the risk for foot ulcers and amputations. We aimed at evaluating the prevalence of clinical DPN and associated risk factors in patients followed in primary care centers. MATERIAL AND METHODS: 101 type 2 diabetics were evaluated and 8 were excluded due to the presence of other causes of neuropathy. The remaining 93 had a mean age of 65.4 +/- 10.1 years and a mean diabetes duration of 10.1 +/- 11.1 years, 60.2% were women and 39.8% men. DPN was defined as the presence of both altered sensitivities and reflexes, regardless of symptoms. RESULTS: Seventy-two (80%) patients had symptoms of polyneuropathy, but DPN was present only in 29 (32.2%). Calluses (37.8%) and trophic skin (74.4%) and nail (75.6%) changes were found in both feet. There was a significant positive association of DPN with age (69.0 +/- 9.1 vs 63.3 +/- 9.9 years, p=0.01), disease duration (15.7 +/- 13.5 vs 7.2 +/- 8.8 years, p=0.001), feet skin changes (38.8 vs 13.0%, p=0.04) and myocardial infarction/ischemia (14.8 vs 1.7%, p=0.03). CONCLUSIONS: This sample of diabetic patients cared by family doctors presented a high prevalence of DPN. Aging, disease duration, the presence of feet skin changes and myocardial infarction/ischemia are factors that increase the prevalence of the disease. Primary care doctors awareness of the problem might help to decrease the associated morbidity.  (+info)

HLA-Cw6-positive and HLA-Cw6-negative patients with Psoriasis vulgaris have distinct clinical features. (10/170)

Psoriasis is associated with HLA-Cw6, and Caucasians who carry this allele have about a 10-fold increased risk of developing psoriasis. We have HLA-C typed 369 patients with familial psoriasis and compared the clinical features of the patients carrying HLA-Cw6 against those carrying other HLA-C types. Some striking clinical differences were observed between the two groups. Patients who are Cw6 positive had a lower age at onset (p=3x10(-7)). Cw6-positive women had an earlier disease onset than Cw6-positive men (p =0.02), but such a difference was not observed for the Cw6-negative patients. The guttate-type onset of psoriasis was mostly confined to this group (p=2x10(-4)) and persistent disseminated guttate-like papules were also predominantly observed in the Cw6-positive patients (p <10(-)4). The Cw6-positive patients also had more extensive plaques on their arms, legs, and trunk (p =0.001), more severe disease (p =0.003), higher incidence of the Koebner's phenomenon (p =0.005), reported more often that their psoriasis got worse during or after throat infections (p =0.02), and more often a favorable response to sunlight (p =0.008) In contrast, dystrophic nail changes were more common in the Cw6-negative patients (p =0.002) and also psoriatic arthritis, although this was not significant (p =0.135). It is concluded that patients with psoriasis have different clinical features depending on whether they are HLA-Cw6 positive or negative.  (+info)

A novel connexin 30 mutation in Clouston syndrome. (11/170)

Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis.  (+info)

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (12/170)

Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two of which had a family history of pachyonychia and 11 of which were sporadic cases. Heterozygous mis-sense or small in-frame insertion/deletion mutations were detected in the genes encoding keratins K6a, K16, and K17 in all cases. Three novel mutations, F174V, E472K, and L469R were found in the K6a gene. Two novel mutations, M121T and L128Q were detected in K16. Similarly, three novel mutations, L95P, S97del, and L99P were found in K17. In addition, we identified recurrent mutations N171del (three instances) and F174S in K6a and R94H in K17. Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype. This study establishes useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessary DNA analysis in the diagnosis and management of this genetically heterogeneous group of genodermatoses.  (+info)

Nail manifestations in pemphigus vulgaris. (13/170)

Nail involvement in pemphigus vulgaris is rare. We describe 5 patients with pemphigus vulgaris presenting nail involvement. In this disease, nail manifestations present, by order of frequency, as chronic paronychia, onychomadesis, onycholysis, Beau's lines and trachyonychia. All our 5 cases presented with paronychia, and 1 of them also had Beau's lines. Treatment with prednisone and/or cyclophosphamide controlled mucocutaneous and nail manifestations in all cases.  (+info)

Treatment of uncomplicated subungual haematoma. (14/170)

A short cut review was carried out to establish whether nail removal and nail bed repair is better than simple trephining in patients with significant subungual haematoma. Altogether 312 papers were found using the reported search, of which four presented the best evidence to answer the clinical question. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of these best papers are tabulated. A clinical bottom line is stated.  (+info)

Taxane-induced nail changes: incidence, clinical presentation and outcome. (15/170)

The clinical characteristics of nail changes in seven patients receiving taxane-containing chemotherapy are described. They include nail pigmentation, subungual hematoma, Beau's lines and onycholysis and subungual suppuration. The incidence of such changes (ranging from 0% to 44%) is reviewed from a Medline search of the literature.  (+info)

Genetic disorders of palm skin and nail. (16/170)

The outer part of the skin, the epidermis, is specialized to protect the human body from its environment. Because of the high levels of physical stress experienced by the human hand in everyday use, the epidermis of the hand is especially toughened. In particular, the epidermis of the palm is highly specialized to resist mechanical trauma. Like the epidermis, the nails are composed of specialized epithelial cells and are especially strong. In recent years it has become apparent that the physical strength of epithelial cells comes from the keratin cytoskeleton--a dense meshwork of filaments extending throughout the cytoplasm. Keratins are a large family of intermediate filament proteins encoded by more than 50 distinct genes in humans. These different keratin genes are expressed in well-defined combinations in specific epithelial tissues. Several keratin genes are expressed in palmoplantar epidermis and in the stratified epithelia of the nail bed. Genetic mutations in these genes lead to fragility of these tissues and result in a range of genetic disorders characterized by blistering and thickening of palm and sole skin and/or nails. Study of these diseases has shed new light on the vital structural role of keratins in maintaining the integrity of epithelial cells.  (+info)