High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis.

Lamellar ichthyosis (LI) is a genodermatosis that injures the structure and function of the skin, affecting the appearance and self-esteem of patients, which may seriously impair their mental health and quality of life. In the present study, we determined anxiety, depression, and suicidal risk levels in patients with LI through the Beck anxiety and depression inventories (BAI and DBI-II, respectively) and the SAD PERSONS scale (SPS). We observed that anxiety, depression, and suicidal ideation were strongly associated with the LI (Cramér's V = 0.429, 0.594, and 0.462, respectively). Furthermore, patients with LI showed a significant increase in the scores of anxiety, depression, and suicidal risk (p = 0.011, <0.001, and 0.001, respectively) compared to individuals without the disease. Additionally, the suicide risk increased even more in patients who presented comorbidity of anxiety and depression than in patients who presented only anxiety or depression (p = 0.02). Similarly, the increase in the BAI scores correlated with the score observed on the SPS. Our results indicate that patients with LI have higher levels of anxiety and depression compared to individuals without the disease, which could be associated with suicidal risk. Therefore, the collaborative involvement of skin and mental health professionals is necessary to manage patients with LI appropriately. We believe that psychiatric studies and individual evaluations must be performed in LI patients to determine a treatment that, in addition to reducing skin symptoms, focuses on reducing the levels of depression and anxiety and improving the quality of life to reduce the risk of suicide.

High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) are inherited disorders produced by mutations in essential genes for the skin function. A low prevalence of this disease has been resported worldwide; however, in a recent study, we identified a large cluster of ARCI families who resided in the High Mountains Region from the Veracruz State, Mexico. Thus, we aimed to identify the causative mutation of ARCI and describe the high prevalence of this disease in this region. METHODS: We selected seven familiar trios and performed whole-exome sequencing to identify the mutation associated with ARCI. To validate the identified mutation, we performed Sanger sequencing in 62 patients, 30 unaffected relatives, and 100 healthy volunteers. Finally, we performed molecular modeling to investigate the possible functional consequences produced by the mutation. RESULTS: We identified a novel homozygous mutation (c.1054C>G [p.Pro352Ala]) in the exon 7 of the TGM1 gene in all the patients. We calculated a prevalence rate of ARCI of 74:100,000 (1:1,348) in the studied communities. Molecular modeling revealed that the mutation leads to a nonconservative amino acid substitution, which is very probably damaging to the protein structure/function. CONCLUSIONS: We report a novel mutation in the TGM1 gene in 62 Mexican patients. The unusually high frequency of this mutation suggests a founder effect; however, further haplotype analysis is necessary to corroborate this hypothesis. In this respect, to our knowledge, the prevalence of ARCI found in the studied communities is the highest observed worldwide.

Non-invasive methods for evaluation of skin manifestations in patients with ichthyosis.

Hereditary ichthyoses include a group of diseases characterized by hyperkeratosis, scaling, generalized xerosis, and is frequently associated with erythroderma. They are classified as syndromic and non-syndromic entities. The monitoring of the severity of ichthyosis requires different strategies for immediate analysis, which can comprise visual analogue scales or non-invasive quantitative methods, which collect information on disease progression that may contribute to the management of ichthyosis and aid in delineating clinical trials. In this article, we present a comprehensive review of the existing visual analogue scales, their validation, and their use in studies of disease severity and clinical trials. Interestingly, after many years of study, to date there is not a unanimously accepted tool for assessing the harshness of clinical features. Therefore, we discuss the perspectives of some non-invasive quantitative methods and strategies employed in clinical studies performed in patients with ichthyosis. Advances in these methods provide a rationale of their potential application in the evaluation of ichthyosis severity. Our purpose is to show an overview of non-invasive methodologies for the study of the harshness of ichthyosis.

Non-invasive analysis of skin mechanical properties in patients with lamellar ichthyosis.

BACKGROUND: Reliable methods for the quantitative evaluation of skin of patients with ichthyosis are critically needed. Our purpose was to evaluate the biomechanical parameters of skin in a cohort of patients with clinically diagnosed lamellar ichthyosis. MATERIALS AND METHODS: Twenty-two patients diagnosed with lamellar ichthyosis were studied. Ichthyosis plaques located in upper distal limbs were assayed, and a nearby anatomical region without plaques from the same patient was employed as control. Skin biomechanical properties were studied through a non-invasive device (Cutometer® MPA 580). RESULTS: Ichthyosis plaques had higher values for the Uf-Ua parameter and lower values for the Ua/Uf, Ur/Ue, and Ur/Uf parameters. Adults and children showed similar statistical differences. There were no significant differences in data from men, whereas in women differences for all of the parameters were found. There was a significant decrease in the hydration and an increase in melanin index in the ichthyosis plaques. CONCLUSION: Our results suggest that analysis of parameters Uf-Ua, Ua/Uf, Ur/Ue, Ur/Uf, hydration, and melanin index could be employed for quantitative monitoring of skin. Therefore, the non-invasive method applied may be suitable for evaluation of skin of patients with ichthyosis in response to medical treatments.