Síndrome de Unna-Thost / Unna-Thost syndrome

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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.

Palmoplantar keratoderma associated with congenital heart disease.

We report the case of a 14-month-old boy suffering from total anomalous pulmonary venous connection (TAPVC) associated with congenital diffuse palmoplantar keratoderma (PPK). An association between TAPVC and PPK has not been described previously, but PPK has been reported in association with a variety of cardiac abnormalities. Given the low frequency of both conditions, a genetic link seems likely. It is therefore advisable for dermatologists to check for heart abnormalities in children with congenital PPK.

Epidermal growth factor receptors in genetically induced hyperproliferative skin disorders.

The presence and morphologic distribution of epidermal growth factor receptor (EGF-R) were investigated in a variety of genetic disorders that affect human epidermis. These diseases included various forms of ichthyoses as well as restrictive dermopathy and the CHILD syndrome (congenital hemidysplasia-ichthyosiform erythroderma-limb defects). The distribution of EGF-R was detected by immunohistochemical techniques. Increased staining of immunoreactive EGF-R was frequently, but not always, seen in lesions with experimental or clinical evidence of hyperproliferation, suggesting an increased potential to respond to endogenous levels of either transforming growth factor-alpha or EGF. The finding that EGF-R levels are not always increased in congenital epidermal disorders indicated that the presence of this receptor pathway is not simply a marker for aberrant epidermis.