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

BACKGROUND: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. OBJECTIVES: We sought to describe the prevalence of ARCI. METHODS: We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. RESULTS: We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. LIMITATIONS: The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. CONCLUSIONS: The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.

Primary cutaneous localized amyloid elastosis.

Amyloid elastosis is a rare form of cutaneous amyloidosis characterized histologically by the deposition of amyloid-coating elastic fibers of the skin. To date, only 4 cases have been reported, all of them in the setting of systemic amyloidosis. We present the first case of primary cutaneous localized amyloid elastosis.

A new scalp formulation of calcipotriene plus betamethasone compared with its active ingredients and the vehicle in the treatment of scalp psoriasis: a randomized, double-blind, controlled trial.

BACKGROUND: New topical treatments in scalp psoriasis are needed because many current topical treatments are disliked by patients and associated with poor compliance. OBJECTIVE: To compare the efficacy and safety of once-daily, two-compound scalp formulation containing calcipotriene plus betamethasone dipropionate with the individual components in the same vehicle and the vehicle alone. METHODS: In this 8-week, multicenter, randomized, double-blind study, patients with scalp psoriasis were randomized to treatment with the two-compound scalp formulation (calcipotriene 50 microg/g plus betamethasone 0.5 mg/g, as dipropionate) (n = 541), betamethasone 0.5 mg/g (as dipropionate) in the same vehicle (n = 556), calcipotriene 50 microg/g in the same vehicle (n = 272), or vehicle alone (n = 136). RESULTS: More patients achieved "absent" or "very mild" disease at week 8 with the two-compound scalp formulation (71.2%) compared with betamethasone dipropionate in the same vehicle (64.0%, p = .011), calcipotriene in the same vehicle (36.8%, p < .0001), or the vehicle (22.8%, p < .0001). LIMITATIONS: Efficacy of the active comparators in the study has not been established in relation to calcipotriene and betamethasone formulations available for clinical use. CONCLUSION: Calcipotriene plus betamethasone dipropionate scalp formulation was more effective than either of the individual components or the vehicle alone.

Membranous fat necrosis: a non-specific histological finding.

Two patients presented with nodular lesions on their lower limbs. Histologically, the dermis, in one case, and the panniculus, in the other, displayed pseudocystic lesions delimited by a serpiginous membranous structure showing the staining characteristics of ceroid. One patient had sclerosing panniculitis while the other had a traumatic panniculitis.These cases illustrate that membranous fat necrosis is a non-specific histological finding and that multiple processes are involved in its etiopathogenesis.

Cutaneous apocrine cystic adenolipoma.

Adenolipoma is a rare microscopic variant of cutaneous lipoma composed of large lobules of mature adipocytic tissue admixed with eccrine ducts and glands. We report a new case of cutaneous adenolipoma, and the first showing an apocrine cystic glandular component. This lesion may not be a specific entity, and could represent entrapment of epithelial structures within a lipoma.

A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.

Papillon-Lefèvre syndrome (PLS) is an inherited human disorder characterised by premature destruction of the periodontium of the deciduous and permanent teeth, palmoplantar hyperkeratosis, and increased susceptibility to bacterial infections during the first years of life. In this paper two PLS families have been studied. Family 1 presents a novel homozygous mutation (880T>C) in exon 6 causing Y294H amino acid substitution. Family 2 shows a previously described non-sense homozygous punctual change (72C>A) that introduces a termination codon at the extracellular domain of the protein (C24X).