Allergic diseases represent a global burden. Although the patho-physiological mechanisms are still poorly understood, epithelial barrier dysfunction and Th2 inflammatory response play a pivotal role. Barrier dysfunction, characterized by a loss of differentiation, reduced junctional integrity, and altered innate defence, underpins the pathogenesis of allergic diseases. Epithelial barrier impairment may be a potential therapeutic target for new treatment strategies Up now, monoclonal antibodies and new molecules targeting specific pathways of the immune response have been developed, and others are under investigation, both for adult and paediatric populations, which are affected by atopic dermatitis (AD), asthma, allergic rhinitis (AR), chronic rhinosinusitis with nasal polyps (CRSwNP), or eosinophilic esophagitis (EoE). In children affected by severe asthma biologics targeting IgE, IL-5 and against IL-4 and IL-13 receptors are already available, and they have also been applied in CRSwNP. In severe AD Dupilumab, a biologic which inhibits both IL-4 and IL-13, the most important cytokines involved in inflammation response, has been approved for treatment of patients over 12 years. While a biological approach has already shown great efficacy on the treatment of severe atopic conditions, early intervention to restore epithelial barrier integrity, and function may prevent the inflammatory response and the development of the atopic march.

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Introduction: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12 (12p). PKS has a wide spectrum of clinical manifestations which vary in different age groups. However, in the up to date literature there are no reported cases of puberty disorder associated with this syndrome. We describe a caucasian 17- year-old girl with PKS with primary amenorrhea as failure of appropriate pubertal progression. Patient: at first general examination, the patient shows a phenotype compatible with the PKS of adulthood was noted. Auxological data revealed undernutrition (BMI ?3 z-score), with pubertal Tanner stage 3. A retarded bone age was detected. At pelvic ultrasound prepubertal uterus and microfollicular ovaries were noted. The laboratory data was compatible with hypogonadotropic hypogonadism. Conclusion: this is the first case of primary amenorrhea in PKS. It would be interesting to reassess this novel finding in other patients affected by the same condition in order to establish whether hypogonadotropic hypogonadism is a typical clinical manifestation of the syndrome or it’s secondary to nutritional and stressful status.

Altered level of consciousness (ALC) represents a neurological emergency, which demands a methodical approach to evaluation and treatment. Emergency departments’ Paediatricians dealing with children with ALC need a rapid and reliable diagnostic process to rule out life-threatening conditions. ALC can be caused by structural and non-structural conditions, and, among non-structural conditions, intoxications must always be investigated. Toddlers and young children exposed to cannabis may present ALC due to explorative ingestion of the substance. We report three cases of toddlers who were admitted to our emergency department over a 12-month period with ALC due to cannabis intoxication. The three cases highlight how clinical presentation of cannabis intoxication can be variegated. Therefore, in case of afebrile children presenting with ALC Cannabis intoxication must be suspected and a urine drug test should be performed.

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