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1.  Atopic dermatitis phenotypes in childhood 
Background
Atopic dermatitis (AD) is a chronic inflammatory skin disease and can be the first step of the atopic march.
Objective
In this retrospective study, we analysed the immunological and clinical patterns of AD in a group of children affected by the disease since their first years of life, in order to evaluate if and how these patterns can change over time, and to identify biomarkers that can possibly correlate with the clinical phenotype.
Methods
We enrolled Caucasian children with diagnosis of AD performed by a specialist on the basis of Hanifin and Rajka’s criteria and with a first clinical and laboratory evaluation before 5 years of age. Patients were divided in 2 groups: IgE-associated AD (with or without allergic respiratory diseases) and non-IgE-associated AD.
Results
Among 184 patients enrolled in this study, at the beginning 30/184 were classified as having non-IgE-associated AD, but during follow-up, at the median age of 36 months, 15 patients became allergic. All 15 patients who switched from the non-IgE to the IgE-associated form had a significantly earlier onset of AD than those who did not switch. Dust mite sensitization seem to be the best biomarker (OR 2.86) to predict the appearance of allergic respiratory diseases.
Conclusion
IgE-associated AD is more frequent in childhood than non-IgE-associated AD. These two phenotypes are different in the age of onset and in the remission patterns. In the first years of life, it is important to distinguish the different phenotypes in order to evaluate possible allergic related conditions.
doi:10.1186/1824-7288-40-46
PMCID: PMC4063231  PMID: 24887188
Atopic dermatitis; Phenotypes; Allergy; Childhood; Atopic march
2.  A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer 
BMC Cancer  2014;14:70.
Background
An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management, the knowledge of associated manifestations and an accurate clinical and family history evaluation are warranted.
Case presentation
We describe the case of a woman who developed an infiltrating ductal carcinoma of the right breast at the age of 32, a contralateral BC at age 36 and another BC of the right breast at 40. When she was 39 years-old, during a dermatological examination, mucocutaneous features suggestive of Cowden Syndrome, a disorder associated to germ-line PTEN mutations, were noticed. PTEN genetic testing revealed the novel c.71A > T (p.Asp24Val) mutation, whose deleterious effect, suggested by conservation data and in silico tools, was definitely demonstrated by the incapacity of mutant PTEN to inhibit Akt phosphorylation when used to complement PTEN-null cells. In BC tissue, despite the absence of LOH or somatic mutations of PTEN, Akt phosphorylation was markedly increased in comparison to normal tissue, thus implying additional somatic events into the deregulation of the PI3K/Akt/mTOR pathway and, presumably, into carcinogenesis. Hence, known oncogenic mutations in PIK3CA (exons 10 and 21) and AKT1 (exon 2) were screened in tumor DNA with negative results, which suggests that the responsible somatic event(s) is a different, uncommon one.
Conclusion
This case stresses the importance of clinical/genetic assessment of early-onset BC patients in order to identify mutation carriers, who are at high risk of new events, so requiring tailored management. Moreover, it revealed a novel PTEN mutation with pathogenic effect, pointing out, however, the need for further efforts to elucidate the molecular steps of PTEN-associated carcinogenesis.
doi:10.1186/1471-2407-14-70
PMCID: PMC3922036  PMID: 24498881
Hereditary breast cancer; PTEN; Cowden syndrome; PI3K/Akt/mTOR pathway
3.  The empowerment of translational research: lessons from laminopathies 
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
doi:10.1186/1750-1172-7-37
PMCID: PMC3458975  PMID: 22691392
Laminopathies; Emery-Dreifuss Muscular Dystrophy; Dilated Cardiomyopathy with Conduction Defects; Mandibuloacral Dysplasia; Familial Partial Lipodystrophy Type 2; Hutchinson-Gilford Progeria Syndrome; Rare Diseases; Networking activity; interdisciplinary approach to diseases
4.  Atypical piloleiomyoma of the face presenting with central ulceration 
Dermatology Reports  2011;3(3):e50.
Piloleimyoma is a type of cutaneous leiomyoma arising from arrectores pilorum. It can present as either a solitary nodule or multiple lesions. Usually it is localized on the extremities, but can also occur on trunk, neck area and face. Lesions are usually cold, ulcerated and spontaneously painful. Herein we report a case of piloleiomyoma with cytological atypia that was painless despite the presence of central ulceration.
doi:10.4081/dr.2011.e50
PMCID: PMC4211501  PMID: 25386302
piloleiomyoma; surgical excision; immunohistochemestry.
5.  Congenital Syphilis Like Many Years Ago 
This case concerns a premature infant with typical signs of congenital syphilis born to an untreated foreign mother. Syphilis prevalence in pregnant women has been rising in Italy since the beginning of the 21st century, mainly due to immigration. A correct antenatal syphilis screening and consequent adequate therapy of pregnant woman are fundamental to prevent the neonatal infection.
doi:10.1155/2011/235059
PMCID: PMC3336237  PMID: 22567464
6.  Atopic Dermatitis and the Atopic March: What Is New? 
Journal of Allergy  2011;2011:279425.
Objective. In this paper the authors review the management of atopic dermatitis (AD) and the association between AD and allergic respiratory diseases. Data Sources. PubMed databases, researching articles in the last 15 years. Results. Studies about atopic march are cross-sectional population studies at different ages. They show that the most important predisposing factor for atopy is a decrease of the filaggrin's expression. Conclusions. The most modern theories seem to show that the most important factor which starts the atopic march is represented by an impaired epidermal barrier. It causes an increase in skin permeability to allergens that could induce sensitization even in the airways. The major predisposing factor is a primary inherited epithelial barrier defect resulting from filaggrin gene mutation, but other factors may play a role in this complex mechanism. Further studies are needed to focus on AD treatment and preventive strategies.
doi:10.1155/2011/279425
PMCID: PMC3173727  PMID: 21941575
7.  Hydroa vacciniforme 
doi:10.1503/cmaj.092088
PMCID: PMC2988564  PMID: 20837686

Results 1-7 (7)