Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and HNF4A genes were sequenced in 46 unrelated patients that had at least two of the three classical clinical criteria for MODY (age at diagnosis, family history, and clinical presentation). The functional consequences of the mutations were predicted by bioinformatics analysis. Mutations were identified in 23 (50%) families. Twelve families had mutations in the GCK gene, eight in the HNF1A gene, and three in the HNF4A gene. These included seven novel mutations (GCK c.494T>C, GCK c.563C>G, HNF1A c.1623G>A, HNF1A c.1729C>G, HNF4A c.68delG, HNF4A c.422G>C, HNF4A c.602A>C). Mutation-positive patients were younger at the time of diagnosis when compared to mutation-negative patients (14.3 vs. 23.0 years, p = 0.011). This study further expands the spectrum of known mutations associated with MODY, and may contribute to a better understanding of this type of diabetes and a more personalized clinical management of affected individuals.

Atopic dermatitis (AD) is a chronic skin disease characterized by severe pruritus, erythema, edema, crusting, excoriation, lichenification and skin dryness. AD is often diagnosed during childhood, though the onset of symptoms may occur at any time. Lesions in older children and adults are usually located in flexural areas along with the head and neck. Facial involvement is also common in AD, not only in children but additionally in adolescents [1]. This inflammatory disease is characterized by skin microbial dysbiosis and barrier dysfunction. Initial inflammation has a T2 profile in response to allergens, which is later amplified by skin barrier breaking and reduction of antimicrobial peptides. This promotes skin pathogens growth (mainly Staphylococcus aureus) and the evolution to a T2, T1 and T17 pattern [2,3]. AD is often associated with other atopic diseases such as rhinitis and asthma.