These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. A positive in situ transglutaminase 1 activity assay excluded a putative TGM1 mutation. NIPAL4 sequencing revealed in both patients a new homozygous missense mutation, c.403A>C, affecting a highly conserved amino acid (p. Ser135Arg) and predicted to be deleterious according to in silico analysis. In addition to the ARCI features, the patients had caries and partial edentation. Although delay in dental treatment led to caries progression and extraction of secondary teeth, this finding raises the possibility of a deficiency in enamel mineralization due to NIPAL4 dysfunction as an Mg(2+) transporter. Evaluating new patients with ARCI provides fruitful clinical and molecular findings.

Objectives: The aim of this study was to compare the efficacy and tolerability of 20% trichloroacetic acid (TCA) peel with 15% azelaic acid gel, a standard antiacne topical treatment. Materials and methods: 51 patients aged between 16-40 years, with mild and moderate acne, were randomized into two groups. Before the treatment were investigated the patients clinical features and hygienic habits, the previous antiacne treatments and feed-back to them. No cases under treatment with contraceptive pills or antiacne medication that could interfere with the results, were included. For a period of eight weeks, 27 patients (group A) were treated with 15% azelaic acid gel, twice daily, and 24 patients (group B) underwent four sessions of 20% TCA peels, at 14 days interval. The efficacy was evaluated by acne lesions counting, at baseline and at 8 weeks. Adverse effects incidence (erythema, local skin irritation), as well as the satisfaction degree of patients, were investigated. Results: Was observed a mean reduction in the number of acne lesions of 32,36% for the group A and 69,36% for the group B. There was no statistically significant difference between the average number of acne lesions before treatment between the two groups. The mean number of acne lesions after the treatment was significantly different (p<0,0001), 20% TCA peels showed superior results than 15% azelaic acid gel. Additionally, 96% of patients who underwent TCA peels were very satisfied with the results obtained. Conclusions: TCA peel is an efficient and well tolerated method for the treatment of acne vulgaris.

Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes

No abstract

Кафедра факультетской терапии Северо-Западного государственного медицинского университета им. И.И. Мечникова, 2 Научноисследовательский институт нефрологии Первого Санкт-Петербургского государственного медицинского университета им. акад.

No abstract