[Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. / Etude clinique et génétique de la kératodermie palmoplantaire de Buschke-Fischer-Brauer dans une famille tunisienne.

BACKGROUND: Punctate palmoplantar keratoderma (PPPK), or Buschke-Fischer-Brauer's disease, is a rare form of genodermatosis with autosomal dominant transmission and with variable penetrance. Its molecular basis remains unknown. Two loci were found to be linked to this disease: one on 15q22 and the other on 8q24. We report the clinical and genetic characteristics of PPPK in a Tunisian family. PATIENTS AND METHODS: A Tunisian family with PPPK was identified through a proband. As far as possible, history taking, physical examination, histopathological tests and blood sampling for DNA extraction were carried out for each patient. RESULTS: Seventeen patients were included in this study. Age ranged from 15 to 81 years with a sex-ratio of 3.2 m/f. Lesions appeared between the ages of 10 and 65 years and at a mean of 28 years. Clinically, lesions ranged from few keratotic papules on the palms to coalescence of lesions in plaques over palmar and/or plantar surfaces. Hyperhydrosis, hypopigmented macules and nail dystrophy were frequently associated. In all patients, histopathological examination revealed thickening of the epidermis with compact orthohyperkeratosis overlying a small and sharply demarcated area of depressed epidermis. Mechanical measures and keratolytic ointments proved non-beneficial. Genotyping for chromosomes 8 and 15 as well as LOD scores confirmed genetic linkage with the suspected locus on chromosome 15q, with the interval of the locus in question reduced to 3.26 Mb. This region is flanked by markers D15S987 and D15S153. CONCLUSION: Our study of this family confirmed the classical characteristics of KPP-BFB as well as demonstrating several associated clinical signs of which the significance will be determined in subsequent studies. Further screening studies to identify mutated genes in the region of interest will help us to understand the molecular basis of this disease and hopefully to propose suitable treatment.

Caso clínico: Brote agudo de Psoriasis en un infectado por el VIH / Clinical case: severe attack of psoriasis in an hiv infected patient

La Psoriasis, que parece no tener una mayor prevalencia en infectados por el VIH, sí que presenta en su evolución en estos casos diferencias significativas ligadas no solo a la inmunodepresión, sino también a la propia acción del virus sobre los factores que influyen en la agudización de la psoriasis, como la estimulación de los queratinocitos, favorecer la presencia de infecciones en la piel, o la liberación de sustancia P que favorece igualmente el incremento queratinocítico. Se presenta un caso clínico y su expresión gráfica a través de las imágenes acompañantes(AU)

Psoriasis, which does not appear to have greater prevalence amongst HIV+ patients, does however present in its progress significant differences in these cases that are not only linked to immunodepression, but also to action of the virus itself on factors that aggravate psoriasis, such as the stimulation of keratinocytes, the favouring of skin infections, or the liberation of substance P, which also encourages growth in keratinocytes. A clinical case is presented along with explanatory images(AU)

Hereditary diffuse palmoplantar keratodermas in Slovenia: epidemiologic foci in remote rural areas.

BACKGROUND: Previous studies carried out in Slovenia revealed a high frequency of cases of hereditary diffuse palmoplantar keratodermas (DPPK). The relatively small total population of about two million in a small territory and an efficient public health service were favorable preconditions for such a study. METHODS: Existing hospital and outpatient department records served as starting points. Patients were invited to come for a follow-up examination, and visiting the patients at their homes enabled us to gather further data. Thus efforts were made to include all patients with hereditary DPPK in Slovenia. RESULTS: Altogether 170 DPPK patients were detected, giving a prevalence of 8.3 per 100,000 inhabitants. The patients originated from remote, mostly mountainous districts, where the local DPPK prevalence highly significantly exceeded the average Slovene prevalence. The segregation ratio showed an autosomal dominant mode of inheritance. The percentage of persons affected was 34.4% (95% confidence interval 29.8-39.4), lower than expected for autosomal dominant inheritance (the difference is highly significant, P < 0.00001; exact binomial test). CONCLUSION: One autosomal dominant gene alone does not fully explain the transmission of the disorder to siblings. Evidence is produced that additional factors are necessary for the transmission of this genetic condition. The degree of consanguinity and the physical pressure on palms and soles seem to play an important part. It is reasonable to expect that molecular-biology studies linked to the epidemiological data could contribute to the solution of the problem.

¿Está infradiagnosticada la “tinea pedis”en pediatría? Estudio en una población escolar de Barcelona / Is tinea pedis underdiagnosed in children? Study in Barcelona school children

La tiña de los pies es menos frecuente en el niño que en el adulto y raramente aparece antes de los 4 años. Para identificar la prevalencia de este tipo de tiñas entre escolares se planificó un estudio en 39 escuelas del distrito que es área de referencia del Hospital del Mar de Barcelona. Se examinaron 2.613 escolares de edades comprendidas entre los 3 y 15 años. Se detectaron 72 casos con cultivo positivo a dermatófitos, 3 padecían conjuntamente afectación ungueal. La prevalencia era del 2,75% y aumentaba con la edad: un 0,86% entre los 3 y 5 años, un 2,08% entre los 10 y 12 años, y un 7,04% entre los 13 y 15 años. Los agentes fueron Trichophyton mentagrophytes (48,6%), J: rubrum (40,27%), Epidermophyton mophyton floccosum(6,94%y) J:t onsurans( 4,16%). De los 72 casos de dermatofitosis, sólo 49 tenían lesiones clínicas evidentes. Sólo 19 de los 49 con manifestacionesc línicas tenían conocimiento de sus lesiones, y 8 habían realizado tratamiento antifúngico de forma irregular unos meses antes. Posibles razones del bajo nivel diagnóstico podrían estar en: a) el bajo interés familiar por las lesiones, al no haber sido verbalizadas, y ser valoradas como triviales; b) la consideración de situación propia de la edad y asociada a la actividad deportiva; c) reducida sintomatología subjetiva; d) falta de práctica exploratoria sistemática de zonas interdigitales de los pies; e) la falta de un correcto diagnóstico diferencial; f) bajo interés de los adolescentes en acudir a visitas pediátricas; y g) autodiagnóstico y automedicación

Tinea pedís is less common in children than in adults and rarely appears before the age of tour years. A cross-sectional study was performed to determine the prevalence of this type of tinea in schoolc hildren in BarcelonaS, pain. A total of 2,613s choocl hildrenw ith the agesf rom 3 to 15, from 39 schools located in the municipal district in the vicinity of the hospital, were examinedto identity the presence of dermatophytogis of the feet. Seventy-two had positive cultures for tínea pedis and dermatophytes, while in three, the nail was involved as well. The overall prevalence was 2.75%, and increased with age, being 0.86% in 3 to 5-year-olds, 2.08% in 10 to 12-year-old and 7.04% in 13 to 15-year-old. The fungi found were Tríchophyton mentagrophytes (48.6%),T rubrum( 40.27%)Epidermophyton floccosum (6.94%) and T. tonsurans(4.16%).Of these 72 children, 49 had interdigital lesions, only 19 of them were aware of their presence and 8 had received antifungal therapy previously, although not consistently. Although the incidence of tinea pedís is low in children, we think that it is underdiagnose. Possible reasons for this could be the limited interest in the lesions on the part of parents, who consider them trivial and do not mention them during physical examinations; the consideration that the condition is characteristic of the age group and is associated with sports and the generalized use of athletic foot wear, the lack of proper foot hygiene after doing sports; the fact that there are few subjective symptoms; the failure on the part of the pediatrician to systematically and carefully examine the interdigital skin of the feet of healthy children; the lack of an accurate differential diagnosis; the reluctance of adolescents to visit the pediatrician; self-diagnosis and self-medication

Palmoplantar keratodermas.

The palmoplantar skin is a highly specialized tissue which is able to resist mechanical trauma and other physical stress. In recent years the more descriptive classification of keratodermas has switched to an exact molecular genetic view where gene functions are considered. Palmoplantar keratodermas can be separated in the following functional subgroups: disturbed gene fuctions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein1), cell-to-cell communication (connexins), and transmembrane signal transduction (cathepsin C). This review intends to emphasize the typical clinical aspects and symptom complexes associated with palmoplantar keratodermas which enable the astute dermatologist to make a clinical diagnosis. In addition the molecular genetic knowledge on the topic is given which is necessary to confirm the clinical diagnosis.

Thost-Unna: presentación de un caso y revisión del tema / Thost-Unna: case presentation and review

Se presenta el caso de una paciente de 26 años de edad que presenta una queratodermia palmoplantar. Aunque las imágenes histopatológicas son comunes a otras queratodermias, las características clínicas y genéticas permiten llegar al diagnóstico de enfermedad de Thost-Unna, considerada por el International Working Group una histodisplasia. La frecuencia de aparición es indeterminada en nuestro país (AU)

The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten).

The frequency of autosomal dominant inherited palmoplantar keratoderma (HPPK) in the northernmost county of Sweden (Norrbotten) is 0.55%. Histopathological examination of 91 biopsies from patients with the dominant form of HPPK revealed no case of epidermolytic PPK. This finding is in contrast to the results of a re-examination of descendants of the original family published by Thost which showed the characteristic features of epidermolytic PPK, and re-evaluation of biopsies from other families has shown that it is the most frequent type. The existence of PPK type Unna-Thost in relation to epidermolytic PPK and to HPPK of the northernmost county of Sweden will be discussed. At the same time a revision of designation of this type is proposed. A dermo-epidermal mononuclear cell infiltrate belongs to the classical description of PPK Unna-Thost. It was shown that this cell infiltrate occurs significantly more often in patients with HPPK and dermatophytosis. Relapsing vesicular eruptions along the hyperkeratotic border are a clinical sign of the severity of dermatophyte infections. Such spongiotic vesicles together with a mononuclear cell infiltrate should be considered as eczematous reaction to dermatophytosis.

Isolated cases of palmoplantar keratoderma, Unna-Thost type.

A study on the prevalence of hereditary palmoplantar keratoderma, Unna-Thost type, was carried out in Croatia. Altogether 205 cases were verified, and of these forty-eight were chosen for further studies. Six isolated cases of hereditary palmoplantar keratoderma, Unna-Thost type, were found. The following theories were considered to explain such a phenomenon: spontaneous mutation, reduced gene expression, incomplete penetration of the gene, late onset of the disease, unknown biological father of the proband, and involvement of genes in addition to the autosomal dominant one.