Real-life effectiveness and safety of baricitinib in patients with severe alopecia areata: A 24-week Italian study.

BACKGROUND: Alopecia areata is an autoimmune condition characterized by rapid hair loss in the scalp, eyebrows and eyelashes, for which treatments are limited. Baricitinib, an oral inhibitor of Janus kinases 1 and 2, has been recently approved to treat alopecia areata. MATERIALS AND METHODS: We conducted a retrospective study involving 23 medical centres across Italy, enrolling patients affected by severe alopecia areata (SALT >50), for more than 6 months. Clinical and trichoscopic assessment was performed at each visit and impact on quality of life, anxiety and depression were evaluated using the Skindex-16 and the Hospital Anxiety and Depression Scale (HADS), respectively. RESULTS: A total of 118 patients were enrolled, with a mean age of 39 years and a mean SALT >95. The mean value of the SALT score decreased from an average of 96.6 (±8.23 sd) to 48 (±35.2 sd) after 24 weeks of treatment and 42.3% of patients achieved a SALT 30, 31.3% a SALT 20 and 20.3% a SALT 10 by Week 24. Trichoscopic signs showed fewer yellow dots and black dots significantly earlier than hair regrowth. Adverse events during the treatment period (mild laboratory test abnormalities) were reported in 12.7% patients. No drop-out were registered. CONCLUSION: Data on the effectiveness and safety of baricitinib are promising and support the use of this drug in severe forms of AA, also in the early stages. We also suggest performing trichoscopy in order to reveal early response to therapy.

An update on juvenile dermatomyositis.

Juvenile dermatomyositis (JDM) is a rare, severe, autoimmune disease characterized by a small-vessel vasculopathy that primarily affects skin and muscle, but also lung, joints, gut and heart. Nowadays prompt recognition of this entity and aggressive treatment, when needed, improves outcomes and has decreased mortality that, before corticosteroid became a mainstay in therapy, could reach 40%.

Psoriasis and seborrheic dermatitis in infancy and childhood.

Psoriasis is a common inflammatory dermatosis that may be seen in infants, children, and adolescents. The clinical presentation and course may be quite variable, and while patients with mild disease are often easily managed, those with recalcitrant or more severe disease often present a therapeutic dilemma given the number of therapies available and the relative lack of data on the efficacy and safety of use of these therapies in children. Diagnosis in children can be more difficult, but family history may be helpful. Moreover, sometimes clinical pattern of pediatric psoriasis is very different from its adult counterpart or it could manifests in association with atopic dermatitis, and for these reason it is possibly misdiagnosed and under recognized. We therefore focus on diagnostic patterns and effective treatments of this challenging disease.

Real-life experience on effectiveness and safety of dupilumab in adult patients with moderate-to-severe atopic dermatitis.

BACKGROUND: Dupilumab, a fully human monoclonal antibody targeting the alpha subunit of IL-4 was recently approved for the treatment of moderate-to-severe atopic dermatitis (AD) in adult patients. OBJECTIVE: To assess dupilumab effectiveness and safety in adults with moderate-to-severe AD in a real-life Italian multicentre retrospective cohort. METHODS: Adult moderate-to-severe AD patients, referring to 39 Italian centers, received dupilumab in the context of a national patient access program. Disease assessment was performed at baseline, after 4 and 16 weeks of treatment using Eczema-Area-and-Severity-Index (EASI) score, itch and sleep numerical-rating-score (itch-NRS, sleep-NRS) and Dermatology-Life-Quality-Index (DLQI). RESULTS: A total of 109 (71 M/38F) patients was studied. There was a significant reduction in EASI score, itch-NRS, sleep-NRS and DLQI from baseline to week 4 and a further significant decline to week 16. EASI 50, EASI75 and EASI90 were achieved by 59.6%, 28.4% and 9.3% of patients at 4 weeks and by 87.2%, 60.6% and 32.4% of them at 16 weeks, respectively. Adverse events were experienced by 19.2% (21/109) of the patients and they were all mild in intensity, being conjunctivitis the most common side effect. CONCLUSIONS: Dupilumab significantly improved disease severity, pruritus, sleep loss and quality of life with an acceptable safety profile.

Proactive disease management with 0.03% tacrolimus ointment for children with atopic dermatitis: results of a randomized, multicentre, comparative study.

BACKGROUND: Long-term treatment for atopic dermatitis (AD) using low-dose, intermittent, topical anti-inflammatory agents may control acute disease and prevent exacerbations. OBJECTIVES: This 12-month, European, multicentre, randomized study investigated if proactive, twice-weekly application of 0.03% tacrolimus ointment can keep AD in remission and reduce the incidence of disease exacerbation (DE) in children. PATIENTS AND METHODS: During the initial open-label period, 267 children with AD applied 0.03% tacrolimus ointment twice daily for up to 6 weeks to all affected areas. When an Investigator Global Assessment (IGA) score of

Effectiveness and safety of cyclosporine in pediatric plaque psoriasis: A multicentric retrospective analysis.

BACKGROUND: Cyclosporine (CysA) is effective for psoriasis in adult patients but little data exist about its efficacy and safety in childhood and adolescence psoriasis. OBJECTIVES: To assess the effectiveness and safety of CysA for childhood and adolescence psoriasis. METHODS: Retrospective analysis of a group of children and adolescents (age < 17 years) with plaque psoriasis treated with CysA at several Italian dermatology clinics. RESULTS: Our study population consisted of 38 patients. The median age at the start of treatment was 12.3 years. Therapy duration varied from one to 36 months. The median maintenance dosage per day was 3.2 mg/kg (range 2-5 mg/kg). Fifteen patients (39,4%) achieved a complete clearance or a good improvement of their psoriasis defined by an improvement from baseline of ≥75% in the psoriasis area and severity index (PASI) at week 16. Eight patients (21.05%) discontinued the treatment due to laboratory anomalies or adverse events. Serious events were not recorded. CONCLUSIONS: In this case series, CysA was effective and well-tolerated treatment in a significant quote of children. CysA, when carefully monitored, may represent a therapeutic alternative to the currently used systemic immunosuppressive agents for severe childhood psoriasis.

Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.

BACKGROUND: Herlitz junctional epidermolysis bullosa (HJEB; MIM 226700) is a rare epithelial adhesion disorder caused by null mutations in any of the three genes encoding the alpha3, beta3 and gamma2 chains of laminin-5, and is mainly characterized by extensive mucocutaneous blistering, recurrent infections and early lethality. OBJECTIVES: To perform immunoepitope mapping, electron microscopy and molecular analysis of five Italian patients with HJEB in order to complete the clinical and molecular characterization of patients with HJEB collected in the Italian Registry of hereditary epidermolysis bullosa (IRHEB) and to calculate the HJEB carrier frequency in this population. METHODS: Skin biopsies from perilesional skin of all patients were employed for immunoepitope mapping and electron microscopy examination. Blood genomic DNA was used for mutation analysis in the LAMA3, LAMB3 and LAMC2 genes by heteroduplex scanning, preceded by a search for Italian recurrent mutations. Carrier frequency calculation was performed assuming Hardy-Weinberg equilibrium. RESULTS: Two novel mutations in the LAMA3 (p.R782X) and LAMC2 (c.3235delA) genes, as well as three known and recurrent mutations in the LAMB3 (c.31insC and p.R81X) and LAMC2 (p.Y355X) genes were identified. Based on disease incidence reported in the IRHEB and the prevalence of mutations in each laminin-5 gene, the population carrier risk for HJEB was calculated to be one in 375. CONCLUSIONS: Our delineation of a laminin-5 mutational spectrum in the general Italian population provides a solid basis for expedited diagnosis, accurate genetic counselling and DNA-based prenatal testing for Italian families at risk for recurrence of HJEB.

Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin.

We report a family affected to the fourth generation by uncombable hair syndrome. This syndrome is characterized by unruly, dry, blond hair with a tangled appearance. The family pedigree strongly supports the hypothesis of autosomal dominant inheritance; some members of the family had, apart from uncombable hair, minor signs of atopy and ectodermal dysplasia, such as abnormalities of the nails. The diagnosis was confirmed by means of extensive scanning electron microscopy. A trial with oral biotin 5 mg/day was started on two young patients with excellent results as regards the hair appearance, although scanning electron microscopy did not show structural changes in the hair. After a 2-year-period of follow-up, hair normality was maintained without biotin, while nail fragility still required biotin supplementation for control.

Specific skin infiltration as first sign of chronic myelomonocytic leukemia with an unusual phenotype.

A patient who had a plaque on his forehead as the first sign of chronic myelomonocytic leukemia (CMML) is described. Histologic studies, which formerly led to the misdiagnosis of non-Hodgkin's lymphoma, revealed CMML with an unusual phenotype. This represents a rare type of CMML for the following reasons: (1) specific cutaneous involvement is rarely the first sign of CMML; (2) the unique phenotype was detected by immunohistology on lesional skin, specifically, the leukemic infiltrate was CD4-positive and notably negative for CD15, the pan myeloid/monocytic marker.

The vitronectin receptor alpha-V beta-3, contrary to ICAM-1, is not modulated by interferon-gamma and tumour necrosis factor-alpha on melanoma cell lines.

A correlation was recently shown between expression of the vitronectin receptor (VnR) and the tumorigenic capacity of cultured human melanoma cell lines. On the other hand, modulation of VnR expression by interferon-gamma (IFN-gamma) and tumour necrosis factor-alpha (TNF-alpha) was observed on different non-melanoma cell lines. We tested IFN-gamma, TNF-alpha and interleukin-2 (IL-2), which are presumably released by infiltrating leukocytes in the melanoma lesional environment, on three melanoma cell lines. The VnR expression was assessed using FACS analysis and radioimmunolabelling. The VnR did not show any modulation after treatment with any of the cytokines tested. By contrast, the expression of the intercellular adhesion molecule-1 (ICAM-1), tested as control, on five melanoma cell lines, was greatly enhanced by IFN-gamma and TNF-alpha. Thus, some host cytokines may preferentially induce melanoma cells to express ICAM-1 (which can increase host cytotoxic response against melanoma), other than the VnR (which instead might contribute to melanoma metastasis).

Cisto dermoide da fossa posterior e meningitis repetitivas. Relato de caso. / Posterior fossa dermoid cyst and recurrent meningitis. Report of a case

Os autores relatam o caso de uma crianca que teve 5 meningites purulentas por Proteus mirabilis. A repeticao da infeccao estava relacionada com a presenca de cisto dermoide localizado na fossa posterior associado a sinus dermico occipital.Sao feitos comentarios sobre o cisto dermoide e suas implicacoes

Neurinomas do acustico - formas atipicas de manifestacao. / Acoustic neurinomas - atypical forms of manifestation

Revisando os neurinomas do acustico na Disciplina de Neurocirurgia da Escola Paulista de Medicina os autores encontraram formas atipicas de manifestacao que fogem a seriacao clasica proposta por Cushing.Analisam tais casos e fazem mencao aos achados de exame fisico, exames subsidiarios e achados operatorios

Abscesso intra-raqueano epidural. Levantamento de 23 casos. / Spinal epidural abscess. Report of 23 cases

Os autores apresentam um levantamento de 23 casos de abscessos intra-raqueanos epidurais da Disciplina de Nerocirurgia da Escola Paulista de Medicina, entre 1947-1981, sendo analizados 14 casos