Infantile Hemangioma and Cardiac Defects: a Puzzling Association. A Single-center Experience.

Objectives: to evaluate clinical chart of patients with IH who had cardiologic evaluation before propranolol therapy and to compare our findings with literature data. Introduction: Some studies have assessed the incidence of heart defects in children suffering from infantile hemangioma (IH) treated with propranolol, showing a possible higher prevalence of cardiac abnormalities in this group of patients. Methods: We retrospectively reviewed clinical charts of children with infantile hemangiomas referred to our dermatologic division from 2016 to 2021, who underwent our pediatric cardiology protocol screening before starting propranolol therapy. Results: A total of 60 infants were enrolled. Electrocardiograms were available for all the patients and echocardiography for 50/60 (83.3%) children. Electrocardiogram didn't reveal any alterations in most cases (pathologic in 2/60 ones, 3.3%) while echocardiograms revealed findings in 31/50 (51.7%) patients. Of these, persistent foramenovale, which was found in 14/50 patients (28%), was considered as non-pathologic. Interatrial septal defects were the main pathological finding in 15/50 patients (30%), as single defect or in association with other abnormalities. Conclusions: Our study confirms the presence of a higher rate of cardiologic findings in patients with infantile hemangioma evaluated before starting oral propranolol, compared to the known rate of those defects in healthy newborns. We also confirm that interatrial septal defects are the most frequent pathologic finding with a higher prevalence compared to published studies. Large prospective studies are needed to clarify a possible association of pathological cardiac findings in all patients with infantile hemangiomas and thereafter to evaluate the possible effect of propranolol therapy on these defects during time.

Tuscany consensus for the treatment of moderate-severe psoriasis: update and focus on practical guidelines for place in therapy of anti-IL-17 and anti-IL-23 biologics.

Psoriasis is a common chronic skin disease characterized by a worldwide distribution and a natural tendency towards progression. According to the many clinical forms, the extension of the disease and the many comorbidities, almost the 20% of the patients require a systemic treatment. Biologics have greatly changed the ongoing of psoriasis and the quality of life of psoriasis patients. After the anti-TNF-alpha, which were the first biologics in use for psoriasis, the improvement in knowledge of the pathogenetic mechanisms underlying the disease has led to the development of a series of more specific therapies for psoriasis. This "second generation" of biologics includes the interleukin (IL)-12/23 inhibitor ustekinumab, IL-17 inhibitors (secukinumab and ixekizumab), the IL-17 receptor A (IL-17RA) antagonist brodalumab, and the IL-23 inhibitors guselkumab, risankizumab and tildrakizumab. This study represents an update of the Tuscany consensus focused on the use of new drugs, such as anti-IL-17 and anti-IL-23 in moderate-to-severe psoriasis and their correct place in therapy according to specific clinical requests and in full respect of the current financial restrictions.

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Here we describe three children with CMTC due to a postzygotic GNA11 mutation c547C > T (p.Arg183Cys), documented in saliva (patient 1) or lesional cutaneous tissue (patients 2 and 3). All three individuals had widespread and asymmetric CMTC which was present from birth and became fainter during the first years of life. Variably associated anomalies included glaucoma, choroidal capillary malformation, and body asymmetry. In previous case reports, postzygotic GNA11 mutations were documented in two cases of phacomatosis cesiomarmorata, being characterized by CMTC coexisting with segmental dermal melanocytosis. Moreover, postzygotic GNA11 mutations were noted in two CMTC patients described under the incorrect diagnosis of "nevus vascularis mixtus". Hence, the present cases convincingly support the concept that CMTC can be caused by mosaic GNA11 mutations and thus belongs to the GNA11-Related Capillary Nevus (GNARCAN) spectrum. In two other bona fide cases of CMTC, however, we were unable to find a mutation in GNA11, which may be explained either by our inability to detect a very low percentage of mutant cells or by genetic heterogeneity of the phenotype.

Tuscan consensus on the use of UVBnb phototherapy in the treatment of psoriasis.

Psoriasis (PSO) is traditionally defined as an immune-mediated, inflammatory dermatological disease characterized by a chronic-relapsing course and associated with multifactorial inheritance (genetic predisposition and influence of various environmental factors). Considered until recently a dermatological disease only, today PSO is correctly known as a systemic one because of the involvement of multiple organs with important impact on social life and relationships. PSO is found in the 0.3-4.6% of the world's population, while its prevalence in the Italian population is estimated at 2.8%. Therefore, if we consider that in Tuscany more than 100,000 people out of 3,672,202 suffer of psoriasis, it is of paramount importance to focus on a shared clinical and therapeutic protocol to manage the disease. With the aim of ensuring diagnostic-therapeutic suitability, high levels of care and standardization of treatment, a unique clinical-therapeutic management model has been developed and validated in Tuscany, involving all accredited regional dermatological centers. Among the possible alternatives to be implemented in the treatment of patients with mild, moderate-severe psoriasis, UVBnb phototherapy is widely used alone or in association with other systemic and non-systemic devices. Despite this, there is still no universally shared therapeutic protocol. In this context the CO.FO.TO working group (Consensus Fototerapia Toscana) is born with the aim of defining and validating the main guidelines in the use of phototherapy with UVBnb in psoriasis; the guidelines are based both on the real-life experience of the different centers of reference in the region and on the revision of the recent literature.

Tuscan consensus on the diagnosis, treatment and follow-up of moderate-to-severe psoriasis.

BACKGROUND: Psoriasis is traditionally defined as an inflammatory chronic-relapsing disease of the skin. As widely demonstrated, this disease is also associated with multiple comorbidities: arthropathy, inflammatory bowel disease, metabolic, cardiovascular, ocular and psychological disorders. The disease also has a significant impact on patients' quality of life, whose work ability decreases considerably with clear consequences for the social costs. Therefore, if we consider that in Tuscany, more than 100,000 people out of 3,672,202 suffer from psoriasis, it is of paramount importance focusing the attention on a rational model of clinical and therapeutic management of the disease. All the leading experts in Tuscany have come together with the aim of defining unanimously accepted regional guidelines for the diagnosis, treatment, follow-up and management of psoriasis, and of providing practical guidance/protocol on diagnosis, treatment, follow-up and management of special cases of moderate-to-severe plaque psoriasis. METHODS: In a working group formed ad hoc, the main topics have been discussed and approved by plenary vote. RESULTS: Diagnosis must include a proper general health condition overview, a careful evaluation of skin and joints, the assessment and management of other comorbidities and the definition of disease severity. With regards to the therapy the best time to start a systemic treatment, the therapeutic goal, the most appropriate drug and blood tests to be performed in case of moderate severe-psoriasis have been taken into account. During follow-up, proper monitoring of systemic therapy and its management in the long term has also been suggested. Eventually, the experts have addressed the problem of how to manage the disease in special conditions, such as during surgery, pregnancy, in children and in case of infections (HBV, HCV, HIV). CONCLUSIONS: The main aim of this Consensus was to find agreement on the criteria for diagnosis, treatment and follow-up of psoriasis, shared by all the Dermatologic Therapy Units of Tuscany. A need to create an easier way for the patient to access specialized dermatology outpatient services, and to reduce the waiting list and costs related to the management of psoriasis has been stressed. Most importantly, during the Consensus all of the participants agreed on the central role of the patient, and on the need of a multidisciplinary management of the disease which requires communication among specialists and regional centers in order to build on existing experience.

Treatment of disseminated granuloma annulare with allopurinol: case report.

Granuloma annulare (GA) is a rare disease characterized by granulomatous inflammation of the dermis. A variant form of the disease, disseminated granuloma annulare (DGA), can be observed in about 15% of affected patients. Localized GA is likely to resolve spontaneously within months or a few years, whereas DGA can persist for decades. Various therapies have been suggested in these cases, but none of them has been demonstrated to be consistently efficacious. Allopurinol has been successfully used in granulomatous diseases such as sarcoidosis or reactions to polymethylmethacrylate spheres; therefore, we decided to evaluate the possible efficacy of this drug in three patients with long-lasting, therapy-resistant DGA.

Diffuse sterile pustular eruption with changing clinical features in a 2-year old.

We report a 2-year-old girl with diffuse pustular eruptions occurring in close association with respiratory tract infections. The pustular eruption had different clinical characteristics over time, evolving from circinate to von Zumbush pustular psoriasis, and finally to subcorneal pustular dermatosis. Treatment with acitretin 1 mg/kg/day gave good results. A relapse showing striking clinical characteristics of subcorneal pustular dermatosis was treated with dapsone (1 mg/kg/day) followed by ultraviolet B-narrowband (UV-B-NB) phototherapy. The patient subsequently had several relapses over 1 year, which were well controlled with short cycles of UV-B-NB. This patient's findings demonstrate that pustular eruptions can vary over time, assuming clearly different clinical patterns, and highlight the difficulty of classifying pustular eruptions as separate diseases.

UVA light stimulates the production of cathepsin G and elastase-like enzymes by dermal fibroblasts: a possible contribution to the remodeling of elastotic areas in sun-damaged skin.

Solar elastosis is characterized by accumulation of large amounts of material staining similarly to elastin in the dermis. The nature of this material and the process responsible for its accumulation are still unknown. Elastolytic proteases have important functions in the catabolism of the interstitial matrix and can also generate, by the digestion of the interstitial proteins, soluble peptides which can induce collagen and elastin synthesis and deposition. We investigated whether (i) elastolytic enzymes can be detected in samples from sun-exposed and non-exposed skin, and (ii) ultraviolet (UV) rays influence the production of elastolytic activities in cultured dermal fibroblasts. Immunoelectron microscopy showed a positive reaction for neutrophil elastase and cathepsin G in fibroblast-like cells from specimens of sun-exposed areas. Little or no reaction was found in biopsies of sun-protected skin. Fibroblast cultures from sun-exposed skin expressed higher levels of hydrolytic activity against synthetic substrates of elastases and cathepsin G than those obtained from sun-protected areas. Irradiation with UVA strongly stimulated the production of these activities in fibroblasts from sun-protected sites. No significant change was detected in parallel sets of cultures after UVB irradiation. Inhibition experiments indicated that the elastase-like activity expressed by fibroblasts can be attributed to at least two enzymes.