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Current drugs for Alzheimer's Disease (AD), such as cholinesterase inhibitors (ChEIs), exert only symptomatic activity. Different psychometric tools are needed to assess cognitive and non-cognitive dimensions during pharmacological treatment. In this pilot study, we monitored 33 mild-AD patients treated with ChEIs. Specifically, we evaluated the effects of 6 months (Group 1 = 17 patients) and 9 months (Group 2 = 16 patients) of ChEIs administration on cognition with the Mini-Mental State Examination (MMSE), the Montreal Cognitive Assessment (MoCA), and the Frontal Assessment Battery (FAB), while depressive symptoms were measured with the Hamilton Depression Rating Scale (HDRS). After 6 months (Group 1), a significant decrease in MoCA performance was detected. After 9 months (Group 2), a significant decrease in MMSE, MoCA, and FAB performance was observed. ChEIs did not modify depressive symptoms. Overall, our data suggest MoCA is a potentially useful tool for evaluating the effectiveness of ChEIs.
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Enfermedad de Alzheimer , Inhibidores de la Colinesterasa , Humanos , Inhibidores de la Colinesterasa/uso terapéutico , Proyectos Piloto , Enfermedad de Alzheimer/tratamiento farmacológico , Pruebas de Estado Mental y Demencia , Resultado del TratamientoRESUMEN
The COVID-19 pandemic caused critical mental health issues and lifestyle disruptions. The aim of this study was to explore, during the lockdown of second-wave contagions in Italy, how stress was affected by dispositional (personality factors and intolerance to uncertainty) and behavioral (coping strategies) dimensions, how these variables differed among sex, age, educational, professional, and health groups, and how the various changes in work and daily routine intervened in the psychological impact of the emergency. Our results highlight that women, the youngs, students/trainees, those with chronic diseases, those who stopped their jobs due to restrictions, and those who left home less than twice a week were more stressed, while health professionals showed lower levels of the same construct. Those with higher levels of stress used more coping strategies based on avoidance, which positively correlated with age, agreeableness, conscientiousness, and intolerance to uncertainty, and negatively with openness. Stress levels also positively correlated with agreeableness, conscientiousness, intolerance to uncertainty, and seeking of social support, and negatively with openness, a positive attitude, and a transcendent orientation. Finally, stress was predicted mainly by behavioral dimensions. Our results are discussed and framed within the literature, as important insights for targeted intervention strategies to promote health even in emergencies.
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COVID-19 , Humanos , Femenino , COVID-19/epidemiología , Adaptación Psicológica , Pandemias , Promoción de la Salud , Control de Enfermedades Transmisibles , PersonalidadRESUMEN
Sleep disorders have become increasingly prevalent, with many adults worldwide reporting sleep dissatisfaction. Major Depressive Disorder (MDD) and Bipolar Disorder (BD) are common conditions associated with disrupted sleep patterns such as insomnia and hypersomnolence. These sleep disorders significantly affect the progression, severity, treatment, and outcome of unipolar and bipolar depression. While there is evidence of a connection between sleep disorders and depression, it remains unclear if sleep features differ between MDD and BD. In light of this, this narrative review aims to: (1) summarize findings on common sleep disorders like insomnia and hypersomnolence, strongly linked to MDD and BD; (2) propose a novel psychometric approach to assess sleep in individuals with depressive disorders. Despite insomnia seems to be more influent in unipolar depression, while hypersomnolence in bipolar one, there is no common agreement. So, it is essential adopting a comprehensive psychometric protocol for try to fill this gap. Understanding the relationship between sleep and MDD and BD disorders are crucial for effective management and better quality of life for those affected.
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Trastorno Bipolar , Trastorno Depresivo Mayor , Trastornos de Somnolencia Excesiva , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Adulto , Humanos , Trastorno Bipolar/complicaciones , Trastorno Bipolar/epidemiología , Trastorno Depresivo Mayor/complicaciones , Trastorno Depresivo Mayor/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/complicaciones , Psicometría , Calidad de Vida , Comorbilidad , Trastornos de Somnolencia Excesiva/complicaciones , Trastornos de Somnolencia Excesiva/epidemiología , Trastornos del Sueño-Vigilia/complicacionesRESUMEN
Suicide attempts are a possible consequence of Major Depressive Disorder (MDD), although their prevalence varies across different epidemiological studies. Suicide attempt is a significant predictor of death by suicide, highlighting its importance in understanding and preventing tragic outcomes. Researchers are increasingly recognizing the need to study the differences between males and females, as several distinctions emerge in terms of the characteristics, types and motivations of suicide attempts. These differences emphasize the importance of considering gender-specific factors in the study of suicide attempts and developing tailored prevention strategies. We conducted a network analysis to represent and investigate which among multiple neurocognitive, psychosocial, demographic and affective variables may prove to be a reliable predictor for identifying the 'suicide attempt risk' (SAR) in a sample of 81 adults who met DSM-5 criteria for MDD. Network analysis resulted in differences between males and females regarding the variables that were going to interact and predict the SAR; in particular, for males, there is a stronger link toward psychosocial aspects, while for females, the neurocognitive domain is more relevant in its mnestic subcomponents. Network analysis allowed us to describe otherwise less obvious differences in the risk profiles of males and females that attempted to take their own lives. Different neurocognitive and psychosocial variables and different interactions between them predict the probability of suicide attempt unique to male and female patients.
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INTRODUCTION: The Major Depressive Disorder (MDD) is a mental health disorder that affects millions of people worldwide. It is characterized by persistent feelings of sadness, hopelessness, and a loss of interest in activities that were once enjoyable. MDD is a major public health concern and is the leading cause of disability, morbidity, institutionalization, and excess mortality, conferring high suicide risk. Pharmacological treatment with Selective Serotonin Reuptake Inhibitors (SSRIs) and Serotonin Noradrenaline Reuptake Inhibitors (SNRIs) is often the first choice for their efficacy and tolerability profile. However, a significant percentage of depressive individuals do not achieve remission even after an adequate trial of pharmacotherapy, a condition known as treatment-resistant depression (TRD). METHODS: To better understand the complexity of clinical phenotypes in MDD we propose Network Intervention Analysis (NIA) that can help health psychology in the detection of risky behaviors, in the primary and/or secondary prevention, as well as to monitor the treatment and verify its effectiveness. The paper aims to identify the interaction and changes in network nodes and connections of 14 continuous variables with nodes identified as "Treatment" in a cohort of MDD patients recruited for their recent history of partial response to antidepressant drugs. The study analyzed the network of MDD patients at baseline and after 12 weeks of drug treatment. RESULTS: At baseline, the network showed separate dimensions for cognitive and psychosocial-affective symptoms, with cognitive symptoms strongly affecting psychosocial functioning. The MoCA tool was identified as a potential psychometric tool for evaluating cognitive deficits and monitoring treatment response. After drug treatment, the network showed less interconnection between nodes, indicating greater stability, with antidepressants taking a central role in driving the network. Affective symptoms improved at follow-up, with the highest predictability for HDRS and BDI-II nodes being connected to the Antidepressants node. CONCLUSION: NIA allows us to understand not only what symptoms enhance after pharmacological treatment, but especially the role it plays within the network and with which nodes it has stronger connections.
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Trastorno Depresivo Mayor , Trastorno Depresivo Resistente al Tratamiento , Humanos , Trastorno Depresivo Mayor/tratamiento farmacológico , Antidepresivos , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico , Trastorno Depresivo Resistente al Tratamiento/tratamiento farmacológicoRESUMEN
The purpose of this study is to use a dynamic network approach as an innovative way to identify distinct patterns of interacting symptoms in patients with Major Depressive Disorder (MDD) and patients with Bipolar Type I Disorder (BD). More precisely, the hypothesis will be testing that the phenotype of patients is driven by disease specific connectivity and interdependencies among various domains of functioning even in the presence of underlying common mechanisms. In a prospective observational cohort study, hundred-forty-three patients were recruited at the Psychiatric Clinic "Villa dei Gerani" (Catania, Italy), 87 patients with MDD and 56 with BD with a depressive episode. Two nested sub-groups were treated for a twelve-week period, which allowed us to explore differences in the pattern of symptom distribution (central vs. peripheral) and their connectedness (strong vs weak) before (T0) and after (T1) treatment. All patients underwent a complete neuropsychological evaluation at baseline (T0) and at T1. A network structure was computed for MDD and BD patients at T0 and T1 from a covariance matrix of 17 items belonging to three domains-neurocognitive, psychosocial, and mood-related (affective) to identify what symptoms were driving the networks. Clinically relevant differences were observed between MDD and BD, at T0 and after 12 weeks of pharmacological treatment. At time T0, MDD patients displayed an affective domain strongly connected with the nodes of psychosocial functioning, while direct connectivity of the affective domain with the neurocognitive cluster was absent. The network of patients with BD, in contrast, revealed a cluster of highly interconnected psychosocial nodes but was guided by neurocognitive functions. The nodes related to the affective domain in MDD are less connected and placed in the periphery of the networks, whereas in BD they are more connected with psychosocial and neurocognitive nodes. Noteworthy is that, from T0 to T1 the "Betweenness" centrality measure was lower in both disorders which means that fewer "shortest paths" between nodes pass through the affective domain. Moreover, fewer edges were connected directly with the nodes in this domain. In MDD patients, pharmacological treatment primarily affected executive functions which seem to improve with treatment. In contrast, in patients with BD, treatment resulted in improvement of overall connectivity and centrality of the affective domain, which seems then to affect and direct the overall network. Though different network structures were observed for MDD and BD patients, data suggest that treatment should include tailored cognitive therapy, because improvement in this central domain appeared to be fundamental for better outcomes in other domains. In sum, the advantage of network analysis is that it helps to predict the trajectory of future phenotype related disease manifestations. In turn, this allows new insights in how to balance therapeutic interventions, involving different fields of function and combining pharmacological and non-pharmacological treatment modalities.
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Trastorno Bipolar , Trastorno Depresivo Mayor , Humanos , Depresión , Estudios Prospectivos , Función EjecutivaRESUMEN
Background: The COVID-19 pandemic has significantly affected the mental health of healthcare workers, who have taken on the major problems triggered by the emergency. The mental consequences concern high levels of insomnia, anxiety, depression and burnout, which inevitably affect their professional quality of life too. Objective: The aim of this study was to analyze the relationship between psychopathological symptoms (tested with the Depression Anxiety Stress Scale, DASS-21) and professional quality of life (measured with the Professional Quality of Life Scale, ProQol) in a hospital of southern Italy. Methods: 204 healthcare workers were recruited by non-probabilistic sampling and divided by age, gender, work roles (physicians, nurses and intermediate care technicians) and clinical departments (Cardio-medicine, Infectious Diseases, Emergency Medicine, First Aid, Obstetrics and Pneumology). Results: The results showed higher levels of Secondary Traumatic Stress, Depression, Anxiety and Stress in women than in men. Physicians and nurses experienced lower levels of Compassion Satisfaction but higher Burnout than intermediate care technicians; likewise, nurses were more anxious than physicians. The Emergency Medicine had higher scores in Compassion Satisfaction than Infectious Disease, Pneumology, Obstetrics and Cardio-Medicine. Conclusion: In light of what has been said so far, it appears essential to intervene on the first mild signs of Burnout and Secondary Traumatic Stress, because they precede the onset of Depression, Stress and Anxiety in healthcare workers.
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The Habit Reversal Training (HRT) is a behavioral procedure for treating the so-called nervous habits, such as nail biting, hair pulling and thumb sucking. In addition to being an established clinical procedure, HRT is also a strategy for behavioral change that can serve the entire community. For this reason, this review aims to explore the studies proposing the use of HRT for the reduction of hand-to-face habits in the context of COVID-19 pandemic. Touching one's nose, mouth and eyes, indeed, is one of the means of virus transmission that many awareness campaigns seek to highlight. After an overview of how HRT works and of the current epidemiological situation, studies supporting Habit Reversal Training for the reduction of risky hand-to-face habits are presented. The possible strategies are then exposed and critically discussed to identify their limitations and propose a new version according to the Relational Frame Theory.
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During the COVID-19 pandemic, increased stress factors affected people's motivations to engage in potentially addictive behaviors. Sexuality, understood as one of the psychological aspects to be investigated to explore the level of psychological well-being of a person, has suffered considerable repercussions due to the pandemic. A growing body of evidence suggests an unprecedented increase in Internet use and online pornography consumption during the pandemic. Since March 2020, during the lockdown period, Pornhub has seen a worldwide increase in pornography use of 11.6% compared to the previous average days. This research was conducted with the aim of exploring the possible increasing use of pornographic material during the lockdown period, in order to assess whether dysfunctional behaviors, such as compulsive behaviors, and thoughts of sex-related obsessives can lead to hypersexual behavior or a more severe Sexual Addiction. The individuals who participated in our research were 18 years of age or older (mean 23.1, s.d. 5.8), and 48% male and 52% females and were recruited online to complete a self-report questionnaire in the period between April 2020 and April 2021. The questionnaires were delivered via main social networks. The tool used for our survey was the SAST (Sexual Addiction Screening Test), a questionnaire including socio-demographic data and data relating to sexual practices, such as sexual orientation and time spent on the Internet for sexual activities. The results revealed significant differences concerning the various factors investigated such as loss of control, addictive symptoms and hide score.
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Conducta Adictiva , COVID-19 , Adolescente , Adulto , Conducta Adictiva/psicología , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Femenino , Humanos , Masculino , Pandemias , Distanciamiento Físico , Políticas , SARS-CoV-2RESUMEN
It is widely recognized that body dissatisfaction is an important public health concern. In the past, being a fashion model was almost synonymous with anorexia/bulimia, and even today, there are cases of eating disorders in young women whose ambition is to become a top model. Moreover, stress can play a substantial role within ill health via related behaviors such as smoking, substance abuse, and inappropriate eating. In our study, we examined 112 aspiring fashion models aged between 15 and 24 years (M = 19.5, SD = 2.08) from 32 different countries of the world during an international contest, and 100 students (control group), aged between 16 and 22 years (M = 18.6, SD = 1.39). The purpose of this cross-sectional study was to examine whether stress mediated the relationship between body dissatisfaction and eating disorders. The study included the administration of stress and self-efficacy and the locus of control dimensions, body (image) dissatisfaction, and eating attitude disorder. Results indicated higher scores on body dissatisfaction, stress level, and eating attitudes disorder among the group of fashion models compared to the control. Mediational analyses showed that body dissatisfaction was partially mediated by stress level on eating disorders. Especially in the aspiring fashion models, there are often many possibilities that competitive stress causes candidates to exacerbate attempts to maintain their body weight below normal weight/height parameters. These results indicated that appropriate intervention for the management of stress level could possibly defend against the negative impact of body dissatisfaction on eating disorder symptoms. The presence of skilled health workers in the field of nutrition and psychology can be extremely important in the field of fashion to maintain an adequate quality of life.
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Más allá de las repercusiones neurobiológicas, cognitivas y académicas que acarrea la dislexia, se conocen poco las consecuencias en otras dimensiones del desarrollo humano, como las emocionales y de comportamiento socioemocional. Niños y adolescentes con dislexia (n = 41) fueron comparados con compañeros de su misma clase sin dificultades (n = 25), mediante pruebas estandarizadas que evaluaban la autoestima, la ansiedad y los problemas de comportamiento socioemocional. Los resultados, derivados del análisis estadístico con t de Student, mostraron que los alumnos con dislexia manifestaban un nivel menor de autoestima y mayor en problemas de comportamiento que sus iguales sin dificultades. Si bien presentaron más ansiedad en general, las diferencias resultaron significativas únicamente en ansiedad social y de separación. Por su repercusión a nivel escolar urge considerar las medidas para remediar las secuelas asociadas a las dificultades de aprendizaje, trabajando directamente las dimensiones emocionales afectadas y reduciendo las dificultades académicas de estos escolares, así como reflexionando sobre las metodologías didácticas en el grupo clase
Most research about dyslexia and comorbid learning difficulties has focused on neurobiological, cognitive, and academic effects. However, less is known about the dyslexia impact on other aspects of human development, as socioemotional or affective dimensions (i.e., self-esteem, anxiety, or socioemotional behavior). These dimensions were tested in students with dyslexia (n = 41), compared to students without learning difficulties (n = 25). Standardized measures of self-esteem, anxiety, and socioemotional behavior were used. Results of the analysis with Student's t indicated higher scores in the control group than in students with dyslexia in both self-esteem and socioemotional behavior. Results regarding anxiety showed that students with dyslexia would present more anxiety, particularly in social anxiety and separation anxiety. This study highlights the need for intervention measures to be applied at school, working in parallel learning difficulties with affective and socioemotional dimensions in students with dyslexia
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Humanos , Masculino , Femenino , Niño , Adolescente , Estudiantes/psicología , Psicología Educacional , Dislexia/psicología , Autoimagen , Ansiedad/psicología , Estudios de Casos y ControlesRESUMEN
Although tattoos have been historically characteristic of criminals and drug addicts therefore carrying negative associations, it is now an accepted and appreciated form of body modification. Tattoos could be considered as a projective psychological test, most people use their body as blackboard to represent the most varied meanings related to the way they perceive themselves. It is also true that tattoos can assume the role of diagnostic indicators for a possible abuse of psychoactive substances, as well as their aggregating and communicative functions within the group of drug addicts. The aim of this cross-sectional study was to explore the relation among personality traits, self-efficacy, locus of control and motivations for tattooing. The sample consisted of 150 subjects, 50 tattooed adults, 50 tattooed drug addicted adults, and 50 non-tattooed adults. Data were collected by using the Big Five Questionnaire (BFQ), the Perceived Self- efficacy Test, the Mini Locus of Control scale and a Tattoos Inventory. Results of the present study contribute to a deeper understanding of the new meaning of tattoos, they no longer represent personality traits, they rather have the function of reinforcing beliefs about how to perceive oneself, this happens especially in drug addicts in which the presence of tattoos reinforces the illusory belief of self-esteem and internal locus of control. Given the rising presence of tattoos today, this could be useful to get a better understanding of the existential unease of certain populations.
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Threat appeal campaigns have been widely used to induce people to change their bad smoking habits by adopting a better approach in favor of a healthier lifestyle. Social marketers who create this kind of messages tend to believe in the persuasive power of fear arousal. For most people, fear has an important consequence on behavior, leading them to search for means of deleting or coping with the unhealthy behavior. As demonstrated by the Ordered Protection Motivation Model, individual differences such as health resistance play an important role in determining, or not, a change of behavior when faced with the threat. This study explores the relationship between health resistance and attitude towards smoking behavior and examines the mediating impact of coping response and smoke damage perception in a sample of 260 university students, smokers and non-smokers. Results highlight that health resistance has an important direct effect on smoking attitude, but, it seems to be mitigated by the smoke severity of the damage shown in graphic images. The comparison between smokers and nonsmokers allowed us to understand the role of reactance in these two groups, and the significance that anti-smoking campaigns assume. Our results offer important suggestions for future decisions about social threat appeals campaigns.
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BACKGROUND: Cognitive dysfunction represents a distinct biological and clinical dimension in major depression disorders (MDD) and cognitive performance strongly affects psychosocial functioning in patients diagnosed with MDD. OBJECTIVE: To assess which neurocognitive variables at baseline predict the functional outcome of MDD patients in a 1-year follow-up study as assessed by Functioning Assessment Short Test (FAST) and whether the improvement observed on affective and cognitive symptoms in our 12 week-prospective observational study after treatment with selective serotonin reuptake inhibitors (SSRIs) and selective noradrenalin reuptake inhibitors (SNRIs) can affect the following long-term psychosocial functional outcome at 1 year in the same MDD patients. METHODS: We recruited a total of 31 patients (8 males; 23 females) with MDD who had previously completed a pharmacological treatment with SSRIs (n = 22) or SNRIs (n = 9) for 12 weeks, and then continued the same pharmacological treatment for 1 year. After an average 1-year follow-up, they were interviewed with the FAST to assess functional outcome. Multivariate analyses were applied to identify clinical and neurocognitive predictors of functional outcome. RESULTS: Total Montreal Cognitive Assessment (MoCA), Digit Span forward (Span F) and backward (Span B), and 15 Rey words immediate recall (Rey I) scores significantly correlated with FAST. However, after performing regression models only Rey immediate recall score was useful to predict long-term functional outcome (Pearson correlation coefficient R= -0.68, p < 0.001) in four specific subdomains of FAST. When considering changes in affective and cognitive symptoms at the end of the 12 weeks of pharmacological treatment with SSRI or SNRIs (T1-T0) by multiple regression analysis, we found that Span F-test predicted scores in the FAST leisure domain, whereas, changes in Span F, Frontal Assessment Battery (FAB) and Rey I predicted psychosocial functioning in the specific "cognitive" subdomains of FAST. CONCLUSION: Our data suggest that long-term psychosocial functioning can be influenced by neurocognitive performance at baseline, with verbal memory playing a key role in overall functioning. Furthermore, improvement in verbal memory can predict functional outcome at one year in MDD patients with a recent history of partial response to antidepressants.
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BACKGROUND: Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i.e., Legg-Calvé-Perthes-like disease) and disorders of autoimmunity (i.e., diabetes, thyroiditis). In 2014, Happle proposed to name the syndrome with the eponym Ruggieri-Leech syndrome. METHODS: Review of the existing literature on nevus vascularis mixtus and information on our personal experience on new cases and follow-up of previously reported cases by some of us. RESULTS: The existing literature revealed 4 previous studies including 33 cases with an inferred purely cutaneous trait and 3 cases with a combination of paired vascular twin nevi and brain malformation of the Dyke-Davidoff-Masson type. Our personal experience includes 4 unpublished patients (1 female and 3 males; currently aged 2 to 34 years) seen and followed-up at our Institutions in Italy who had: paired vascular nevi involving either the face (n=2) or the face and parts of the body (n=2); facial asymmetry (n=4); mild to moderate facial dysmorphic features (n=2); developmental delay (n=3); seizures/stroke-like episodes and associated hemiplegia (n=4); muscular hypotrophy (n=2); mild to moderate hemispheric atrophy (n=4); skull osseous hypertrophy (n=4); hyperpneumatisation of the sinuses (n=2); hypoplastic brain vessels (n=4); colpocephaly and malformation of cortical development (n=2). Follow-up data on our previous 2 cases revealed that the vascular abnormalities in the skin and nervous system were stable over years without neurological progression or deterioration. CONCLUSIONS: Pathogenically, this complex phenotype suggests that embryonic pairing and somatic recombination of recessive (didymotic) alleles controlling the balance between constriction (i.e., nevus anemicus) and dilatation (i.e., nevus telangiectaticus) of blood vessels could be the primary event causing the phenomena of cutaneous and brain vascular twin spotting and the paired phenomena of skull hyperpneumatisation vs. hypertrophy and brain megalencephaly/colpocephaly vs. cortical dysplasia. This association is likely more frequent than previously thought and should be investigated by means of: (I) brain and spinal cord imaging (combination of CT and MRI studies); (II) skeletal X-ray studies (when dictated by clinical findings); (III) systemic ultrasound studies; (IV) neurophysiologic studies (EEG); (V) psychomotor testing; (VI) and laboratory investigation (including immune-mediated dysfunction).
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BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e.g., cutis marmorata telangectasica congenita (phacomatosis achromico-melano-marmorata)] or in the context of other skin (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis, PPV) or complex malformation phenotypes (e.g., microcephaly and dwarfism). METHODS: (I) Review of the existing literature; and (II) information on our personal experience (clinical, laboratory and imaging data) on new cases with cutis tricolor seen and followed-up at our institutions during years 2010-2016. RESULTS: The existing literature revealed 19 previous studies (35 cases) with pure cutaneous or syndromic cutis tricolor phenomena. Our personal experience included 5 unpublished patients (3 boys; 2 girls; currently aged 2 to 14 years) seen and followed-up at our Institutions in Italy who had: (I) skin manifestations of the cutis tricolor type (N=5); (II) skeletal abnormalities including small skull (n=2), obtuse angle of mandible (n=3), mild to moderate scoliosis (n=3), vertebral defects (n=3), and long bones bowing (n=3); mild psychomotor delay (n=3); epilepsy (n=2); anomalies of the corpus callosum (n=3); and cavum vergae (n =2). CONCLUSIONS: This study further confirms and expands the overall phenotype of cutis tricolor. By literature review and personal experience we conclude that the skin abnormalities of the cutis tricolor type are stable over time; the skeletal defects are mild to moderate and do not progress or cause relevant orthopaedic complications; the neurological/behavioural phenotype does not progress and the paroxysmal events (when present) tend to decrease over time; there is a typical facial phenotype in some patients (long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose and anteverted nostrils), which characterizes a somewhat distinct syndromic phenotype; some patients may develop early onset cataracts. The allelic dydymotic hypothesis of post-zygotic mutations likely involving the same gene loci could well explain the overall skin, bone, lens and nervous system phenomena of migration of different streaks of clones in the different tissues.