Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

“…In our capacity as the national referral centres for ichthyosis in Denmark and Sweden, working in close alliance with existing patient organizations, we have reason to believe that our cohort represents > 90% of all patients with ARCI living in this region, yielding a prevalence figure of approximately 1:100,000 in the period 1997 to 2010. This figure is close to the estimates in many other countries, including a recent study from Spain (46). Some notable features of our study are that: (i) all patients underwent a deep phenotyping and clinical subgrouping of ARCI (see Table I); (ii) we used the same area-related scoring method for scaling and erythema as in a previous study of Swedish patients belonging to the same cohort (22); (iii) the scoring, although not yet validated, was performed by the same investigators and at an age (> 1 year) when the patients' skin phenotype is mostly stable (many patients were followed by us for decades), and (iv) the genetic screening, which continued over a period when several new ARCI genes and improved DNA technologies appeared, unravelled the aetiology in approximately 85% of patients, i.e.…”

First Symposium of Ichthyosis Experts

“…A recent study estimated the prevalence of ARCI in Spain to be between 7.2 and 16.2 cases per million population, an estimate that would suggest that there are at least 288 individuals affected by this type of ichthyosis in the country. 6 One of the most important conclusions of that study was that most of these patients are not treated in a specialized setting; that is, they do not generally have access to a hospital staffed by expert professionals and equipped with the necessary material resources. The evidence plainly shows that the care of these patients could be improved.…”

Autosomal Dominant Lamellar Ichthyosis in a Cameroonian Family

“…Lamellar Ichthyosis is an autosomal recessive disorder in almost all cases. Autosomal dominant transmission is rare [1]. The congenital lesions are not life threatening but largely affects the quality of life of the affected people.…”