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The aim of this paper was to evaluate efficacy and tolerability of a topical gel (ACNAID TM gel medical device) containing 3% hydrogen peroxide (HPO), 1.5% salicylic acid (SA) and 4% D-panthenol (D-p) in the treatment of mild-moderate acne, comparing it with a previous formulation (ACNAID TM gel Cosmetic) containing 4% HPO, 0.5% SA, 4% D-p.

Introduction. Skin is a specific target of new cancer treatments. Xerosis, inflammatory lesions and radiodermatitis are the most frequent skin reactions. They can decries patients quality of life and compromise their compliance with cancer therapy. Vitamin E is well known for its antioxidant action, for which it is used in many inflammatory skin diseases. We evaluated the efficacy and safety of a medical device based on vitamin E for the treatment of xerosis, of consequent effects of papulopustular rash and radiodermatitis. Materials and methods. We selected 20 women between 35 and 60 years old, affected by xerosis, consequent effects of papulopustular rash and radiodermatitis. The protocol provided for the application of a topical product consisting of tocopherols and tocotrienols to 10% to 0.3% twice a day to the affected area. The evaluations were carried out at the beginning of treatment (TO) and after 40 days (T1) using the following methods: photographic assessment; clinical evaluation; evaluation of Trans Epidermal Water Loss (TEWL) by corneometry; assessment of skin color by colorimeter X-Rite̊ 968 according to the L *a*b* system; assessment of tolerability with a questionnaire; assessment of adherence to therapy through the completion of a daily diary. Statistical analysis was performed by calculating the Student's t. Results. Photographic evaluation shows a significant improvement of the lesions from T0 to T1. Clinical evaluation showed a good improvement in 13 of 20 patients (65 %). TEWL in patients with xerosis went from a value of 19.86 at T0 to a mean value of 14.62 at T1. The outcomes of patients with papulopustular rash presented at T0 an average value of TEWL of 17,25, which was of 15.42 at T1. In patients with previous radiodermatitis, the TEWL was 35.06 at T0 and it was 13.23 at T1. Colorimetry showed a L * value of 58,06 at T0 while it was 60.04 at T1 in patients with xerosis. Patients with previous papulopustular rash presented at T0 an average value of L* of 57.33 while at T1 this was 59.67. In patients with an outcome of radiodermatitis the average went from 53.12 at T0 to 59.91 T1. Tolerability was excellent in 100% of cases. The analysis of the diaries of application of the product showed a good adherence to therapy. Discussion and conclusions. The preparation based on tocopherol and tocotrienols showed an excellent efficacy profile, a good tolerability and safety profile and an excellent profile of adherence.

Platelet-rich plasma (PRP) contains autologous growth factors, which could act synergistically with growth factors induced by skin needling in order to enhance the wound-healing response. The com- bination of treatments, carried out by using skin needling and PRP application, should enhance both efficacy of skin needling and PRP application. The objective of this study is to establish the effectiveness of the combined use of skin needling and PRP application in acne scarring treatment. Twelve patients affected with rolling acne scars were enrolled. Each patient underwent 2 sessions of treatments, each consisting of skin needling followed by PRP application on the right side of the face and skin needling alone on the left side of the face. Digital photographs of all patients were taken. Photographic data were analyzed by using the Sign Test (a,.05). The study showed that the scars severity grade in all patients was greatly reduced on all of the face, but the improvement was more efficient on the side treated with both skin needling and PRP. Our study showed that the combined use of skin needling and PRP is more effective than skin needling alone in improving acne scars.

We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within this gene have been described (Beroud and Soussi, 1996). Of these, about 95% are chain-terminating mutations, and more than 60% have been localized within exon 15 (Nagase and Nakamura, 1993, Beroud and Soussi, 1996). Using polymerase chain reaction-single strand conformation polymorphism, protein truncation test (PTT) and DNA sequencing we have identified five new frameshift mutations (2523insCTTA, 2638delA, 2803insA, 3185delAA, 4145delTCATGT), all occurring within exon 15 and giving rise to truncated protein products. Two of these new mutations are of particular interest because of the unusual phenotypic features shown by probands. The phenotype of the proband bearing the 2523insCTTA mutation at codon 842 was very aggressive with onset of the symptoms at 12 years, while the patient bearing the 3185delAA mutation at codon 1062 exhibited features of an attenuated form of FAP (AAPC). Our data reiterate the great heterogeneity of the mutational spectrum in FAP that gives rise to an extreme variability of the clinical expression.

Hereditary nonpolyposis colorectral cancer (HNPCC), an autosomal dominantly inherited predisposition for early onset colorectal cancer, accounts for at least 6% of all colorectal malignancies. HNPCC results from germ-line mutations in DNA mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1 and hPMS2) and is associated with a high rate of replication errors in tumor cells. Using PCR-SSCP, the protein truncation test and DNA sequencing we have analyzed the hMSH2 and hMLH1 genes in 10 Italian families that met the standard diagnostic criteria for HNPCC. We have identified three new mutations in the hMLH1 gene. One mutation consists in a deletion of one base pair at nucleotide 954 (954delC) in exon 11 that creates an early stop at codon 366 and is predicted to abolish normal protein function. The other two are missense mutations. Cys77Arg and Ser193Pro, that cause dramatic amino acid substitutions in two highly conserved MLH domains. The Cys77Arg mutation occurs within a domain (1-114 residues) that is very critical for MMR function. The Ser193Pro mutation occurs in a highly conserved central region of the MLH1 protein. No functional domains have yet been identified in this region. All mutant alleles cosegregate with the cancer phenotype.

Hereditary nonpolyposis colorectral cancer (HNPCC), an autosomal dominantly inherited predisposition for early onset colorectal cancer, accounts for at least 6% of all colorectal malignancies. HNPCC results from germ-line mutations in DNA mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1 and hPMS2) and is associated with a high rate of replication errors in tumor cells. Using PCR-SSCP, the protein truncation test and DNA sequencing we have analyzed the hMSH2 and hMLH1 genes in 10 Italian families that met the standard diagnostic criteria for HNPCC. We have identified three new mutations in the hMLH1 gene. One mutation consists in a deletion of one base pair at nucleotide 954 (954delC) in exon 11 that creates an early stop at codon 366 and is predicted to abolish normal protein function. The other two are missense mutations. Cys77Arg and Ser193Pro, that cause dramatic amino acid substitutions in two highly conserved MLH domains. The Cys77Arg mutation occurs within a domain (1-114 residues) that is very critical for MMR function. The Ser193Pro mutation occurs in a highly conserved central region of the MLH1 protein. No functional domains have yet been identified in this region. All mutant alleles cosegregate with the cancer phenotype.

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within this gene have been described (Beroud and Soussi, 1996). Of these, about 95% are chain-terminating mutations, and more than 60% have been localized within exon 15 (Nagase and Nakamura, 1993, Beroud and Soussi, 1996). Using polymerase chain reaction-single strand conformation polymorphism, protein truncation test (PTT) and DNA sequencing we have identified five new frameshift mutations (2523insCTTA, 2638delA, 2803insA, 3185delAA, 4145delTCATGT), all occurring within exon 15 and giving rise to truncated protein products. Two of these new mutations are of particular interest because of the unusual phenotypic features shown by probands. The phenotype of the proband bearing the 2523insCTTA mutation at codon 842 was very aggressive with onset of the symptoms at 12 years, while the patient bearing the 3185delAA mutation at codon 1062 exhibited features of an attenuated form of FAP (AAPC). Our data reiterate the great heterogeneity of the mutational spectrum in FAP that gives rise to an extreme variability of the clinical expression.

BACKGROUND: Tyrosine kinase inhibitors (TKIs) have been introduced for the treatment of lung cancer, improving progression-free survival, objective response rate, and quality of life. However, TKIs can lead to cutaneous toxicities, including papulopustular rash, xerosis, paronychia with/without pyogenic granulomas, scalp disorders, facial hair and/or eyelash growth. AIM: In this study, we describe retrospectively all cases of mucocutaneous side effects in patients with lung cancer under TKIs referring to our outpatient for the skin care of oncological patients. METHODS: We included patients referring from January 2016 to January 2018 affected by lung cancer and under TKIs. We collected data about the clinical exam, clinical photography, dermoscopy, histology and direct microscopic examination for each patient and we performed retrospectively descriptive analyses to assess whether a specific TKIs is linked significantly to particular cutaneous toxicity. RESULTS: The majority of skin toxicities were due to afatinib, and the most common skin reaction was rash. We selected 60 patients with skin reactions, treated by TKIs for lung cancer. The majority of skin toxicities were due to afatinib (47/102 adverse reactions) and erlotinib (39/102). The most common skin reaction was rash (63% of patients), followed by xerosis (30%) and granulomas (30%). There was no significant relationship between a specific type of cutaneous reaction and specific EGFRi except for granulomas, developed more frequently in patients under afatinib (p < 0.05). CONCLUSION: Most of our patients (63%) developed a cutaneous rash under TKIs. Most commonly afatinib was the drug involved, although it wasn’t the most used EGFRi. Moreover, we noticed a significant correlation between afatinib therapy and appearance of granulomas.

Medical treatment of advanced colorectal cancer is effective in prolonging the survival of patients. The aim of this study was to describe the most common skin toxicities that occur in those patients, analyzing the association between the type of reaction and the different chemotherapeutic drugs; and to evaluate the importance of an outpatient dermatologic service to improve quality of life.Seventy-two patients with skin reactions from advanced colorectal cancer chemotherapy were included. Each patient underwent physical examination and digital photographic imaging, and completed a quality-of-life questionnaire (Dermatology Life Quality Index [DLQI]).Papulopustular rash was the most common side effect observed. It was statistically associated with EGFRi + irinotecan, EGFRi + FOLFOX, and EGFRi. Xerosis occurred in 50% of patients during EGFRi therapy. Periungual pyogenic granuloma-like lesions occurred in 30% of patients during EGFRi therapy. Our data underline a statistically significant association between capecitabine, FOLFOX + EGFRi, FOLFIFI + EGFRi, and hand-foot syndrome (P .001). Because none of patients treated with EGFRi alone developed this kind of reaction, we suppose that it is associated with the use of 5-fluorouracil. Fifty percent of patients receiving anti-epidermal growth factor receptor (EGFR) therapy developed trichomegaly. These data underline a statistically significant association between these reactions and this specific drug.A dermatologic visit is useful, both for the correct diagnosis of and for the adequate therapy of chemotherapy side effects. The prevention and treatment of these toxicities are important, not only to improve quality of life but also to avoid unnecessary dose reduction or interruption, which can have a negative effect on treatment outcome.

Biodegradable polymers are promising materials for films and sheets used in many widely diffused applications like packaging, personal care products and sanitary products, where the synergy of high biocompatibility and reduced environmental impact can be particularly significant. Plasticized poly(lactic acid) (PLA)/poly(butylene succinate) (PBS) blend-based films, showing high cytocompatibility and improved flexibility than pure PLA, were prepared by laboratory extrusion and their processability was controlled by the use of a few percent of a commercial melt strength enhancer, based on acrylic copolymers and micro-calcium carbonate. The melt strength enhancer was also found effective in reducing the crystallinity of the films. The process was upscaled by producing flat die extruded films in which elongation at break and tear resistance were improved than pure PLA. The in vitro biocompatibility, investigated through the contact of flat die extruded films with cells, namely, keratinocytes and mesenchymal stromal cells, resulted improved with respect to low density polyethylene (LDPE). Moreover, the PLA-based materials were able to affect immunomodulatory behavior of cells and showed a slight indirect anti-microbial effect. These properties could be exploited in several applications, where the contact with skin and body is relevant.

Intracranial malignancies can be complicated by seizure activity, and anticonvulsants such as phenytoin are usually administered to prevent this neurological kind of complication. Cranial radiation therapy is instead the treatment of choice when the tumor is unresectable. Anyway, the combination of phenytoin and cranial radiation therapy can lead to a rare and severe mucocutaneous complication called EMPACT syndrome. It is composed of "erythema (E) multiforme (M) associated with phenytoin (P) and (A) cranial radiation (C) therapy (T)." Herein, we report 2 cases of EMPACT syndrome related to the use of phenobarbital instead of phenytoin as usually described in literature.

Papular urticaria caused by Scleroderma domesticum more often occurs in antique dealers, restorers or other people in touch with old furniture infested by woodworms. We report 3 cases of patients affected by papular-urticarial pruritic rash on the trunk persisting for many months and not responding to common symptomatic treatments.

Familial adenomatous polyposis (FAP), an autosomal dominantly inherited condition accounting for about 1% of all colorectal cancers, results from mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. The clinical spectrum and severity of FAP varies greatly with the mutation site, and both between and within families. Using the protein truncation test, single strand conformation polymorphism analysis and DNA sequencing, we identified 30 (75%) mutant alleles in 40 unrelated FAP families, for a total of 22 different APC mutations. Of these, 18 are known and 4 are novel: c.1797C>A (C599X), c.893_894delAC, (c.3225T>A; c.3226C>A) and c.4526_4527insT. Of the 30 APC gene mutations, 5 (approximately 17%) are nonsense mutations, 17 (approximately 57%) are small deletions, 5 (approximately 17%) are small insertions and 3 (approximately 10%) are complete deletions. All mutations occurred in single pedigrees, except those at codons 1061 and 1062, each found in two unrelated families, and the mutation at codon 1309 in exon 15, found in five unrelated families. About 40% of mutations, mostly small deletions and insertions, are located at repeated sequences; they promote misalignment-mediated errors in DNA replication and could represent a hot spot mutation region. This study enlarges the spectrum of APC gene mutations and sheds light on the correlation between the site of APC germline mutations and clinical manifestations of FAP.

We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.

The RET proto-oncogene encodes a tyrosine-kinase receptor specifically expressed in tissues of neuroectodermal origin. Recently specific point mutations of RET have been demonstrated to be responsible for the Multiple Endocrine Neoplasia type 2A and 2B and Familial Medullary Thyroid Carcinoma syndromes, characterized by the occurrence of medullary thyroid carcinomas. Here we report that a human medullary thyroid carcinoma cell line, the TT cell line, harbours a MEN2A-type mutation, specifically a cysteine to triptophan substitution at the level of the RET codon 634. This mutation is heterozygous and both normal and mutated alleles are expressed. We suggest that the TT cell line could be a useful cell system to investigate the role played by the RET oncogene in the transformation and differentiation of human thyroid C-cells.

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within this gene have been described (Beroud and Soussi, 1996). Of these, about 95% are chain-terminating mutations, and more than 60% have been localized within exon 15 (Nagase and Nakamura, 1993, Beroud and Soussi, 1996). Using polymerase chain reaction-single strand conformation polymorphism, protein truncation test (PTT) and DNA sequencing we have identified five new frameshift mutations (2523insCTTA, 2638delA, 2803insA, 3185delAA, 4145delTCATGT), all occurring within exon 15 and giving rise to truncated protein products. Two of these new mutations are of particular interest because of the unusual phenotypic features shown by probands. The phenotype of the proband bearing the 2523insCTTA mutation at codon 842 was very aggressive with onset of the symptoms at 12 years, while the patient bearing the 3185delAA mutation at codon 1062 exhibited features of an attenuated form of FAP (AAPC). Our data reiterate the great heterogeneity of the mutational spectrum in FAP that gives rise to an extreme variability of the clinical expression. © 1999 Wiley-Liss, Inc.

Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a very early age. The proband had a severe microsatellite instability (MIN) phenotype in both tumor and normal colon mucosa, and mutations in the TGFbeta-RII and APC genes in the colorectal tumor. We identified two germline mutations within the PMS2 gene: a G deletion (1221delG) in exon 11 and a four-base-pair deletion (2361delCTTC) in exon 14, both of which were inherited from the patient's unaffected parents. These results represent the first evidence that two germline frameshift mutations in PMS2, an MMR gene which is only rarely involved in HNPCC, are not pathogenic per se, but become so when occurring together in a compound heterozygote. The compound heterozygosity for two mutations in the PMS2 gene has implications for the role of protein PMS2 in the mismatch repair mechanism, as well as for the presymptomatic molecular diagnosis of at-risk family members. Furthermore, our data support and enlarge the notion that high DNA instability in normal tissues might trigger the development of cancer in this syndrome.