Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

BACKGROUND: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. CASE PRESENTATION: Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fissures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fingers, hands, and hypoplastic feet with contractures in flexion and marked difficulty in fine motor skills. In addition, he presented dyschromatopsia, Achilles reflex hyporeflexia, slight speech, dental alteration and deficient cognitive performance. After the genetic sequencing, variants were found in ABCA12 and HRNR which are related to several skin diseases, including ichthyosis. CONCLUSIONS: Although in clinical practice, ichthyosis is a common entity, a severe type of ichthyosis is presented, highlighting the importance of appropriate genetic diagnosis, given the broad spectrum of genetic alterations with similar phenotypic and clinical characteristics. These pathologies must be known to guarantee initial support measures to prevent complications and offer multidisciplinary management to those patients.

Perception of risk as a mediator between personality and perception of health: test of a model.

BACKGROUND: This research article addresses the relationships among personality, risk perception, and health perception. The personality construct has been one of the main topics of research in psychology throughout history and is understood as the set of traits or cognitive, affective and behavioral characteristics that an individual possesses. Important relationships have been found that show the impact of personality on people's health as well as the impact of health conditions on the configuration of personality. This research investigates the perception of risk as a mediating trait between personality and perception of health. MATERIALS AND METHODS: To achieve this, a cross-sectional study was conducted in which 398 Colombians from all regions of the country were evaluated. The NEO Five Factor Inventory (NEO-FFI), The General Health Questionnaire (GHQ-12) and Health Risk Perception Test (HRPT) tests were used. RESULTS: The data were analyzed with multiple regression and path analysis. The findings using multiple regression show that neuroticism and the personal meaning of risk affect the perception of health; however, using path analysis, model fit with the proposed model was not achieved with no mediator effect of perception of risk. CONCLUSION: It is necessary to focus on relationships between neuroticism and perception of health in future research.