TERT promoter mutations are associated with poor prognosis in cutaneous squamous cell carcinoma.

BACKGROUND: Telomerase reverse transcriptase gene (TERT) promoter (TERTp) mutations have been reported as potential predictors of poor prognosis in several cancers, but the prognostic value of TERTp mutations for cutaneous squamous cell carcinoma (cSCC) has not been determined. OBJECTIVE: To evaluate the frequency of TERTp mutations and correlate it with clinicopathologic features and patient outcome. METHODS: We performed genetic profiling of TERTp mutations in a retrospective series of cSCCs. The predictive value of TERTp mutations and clinicopathologic parameters were assessed by using logistic regression models. RESULTS: A total of 152 cSCCs from 122 patients were analyzed for TERTp mutations; the mutation rate was 31.6% (48 of 152), and it was higher in invasive cSCC (42 of 121 [34.7%]) than in in situ cSCC (6 of 31 [19.4%]). Age older than 75 years (odds ratio [OR], 14.84; P = .013] and TERTp mutation (OR, 8.11; P = .002) were independent predictors of local recurrence. TERTp mutation (OR, 15.89; P = .022) was independently associated with higher risk of lymph node metastasis. LIMITATIONS: The restricted number of metastatic cases. CONCLUSION: TERTp mutations may prove to be a molecular biomarker with prognostic significance in invasive cSCC, but larger studies are needed.

Autosomal recessive hyper-IgE syndrome successfully treated with hematopoietic stem cell transplantation.

Autosomal recessive hyper-IgE syndrome is a primary immunodeficiency that results from a mutation in the DOCK8 gene. We report a case of a patient presenting with severe eczema, atopy, and recurrent skin infections since the first months of life. The diagnosis of autosomal recessive hyper-IgE syndrome was made at the age of 7 by a positive DOCK8 genetic test. The patient underwent hematopoietic stem cell transplantation, with complete remission of the various manifestations.

Bullous lupus erythematosus with an erythema gyratum repens-like pattern.

Bullous lupus erythematosus is a rare clinical form of lupus. The diagnosis is challenging and involves the exclusion of other subepidermal bullous dermatoses. We present a 21-year-old woman with erythematosus, polycyclic plaques with vesiculobullae along the periphery, creating an erythema gyratum repens-like pattern on acral regions. The cutaneous biopsy, analytical, and autoimmune studies support the diagnosis of systemic lupus erythematosus. Dapsone and glucocorticosteroids were given with prompt resolution of the lesions within two weeks. To our knowledge this is the first case of bullous lupus erythematosus with this atypical acral presentation.

Allergic contact dermatitis caused by (meth)acrylates in nail cosmetic products in users and nail technicians - a 5-year study.

BACKGROUND: The increasing use of long-lasting nail aesthetic products has led to a growing number of cases of allergic contact dermatitis (ACD) caused by (meth)acrylates in recent years. OBJECTIVES: To provide information on ACD caused by (meth)acrylates related to nail cosmetic products. METHODS: We retrospectively reviewed files of patients with ACD caused by (meth)acrylates related to nail cosmetic products, who were patch tested between January 2011 and December 2015 in 13 departments of dermatology in Portugal. RESULTS: Two-hundred and thirty cases of ACD caused by (meth)acrylates (55 technicians, 56 consumers, and 119 with mixed exposure) had been documented, mostly as chronic hand eczema (93%). The most common sensitizers were: 2-hydroxyethyl methacrylate (HEMA), which was positive in 90% of the tested patients, 2-hydroxypropyl methacrylate (HPMA), which was positive in 64.1%, and ethyleneglycol dimethacrylate, which was positive in 54.5%. CONCLUSION: HEMA and HPMA were the most frequent positive allergens. HEMA, which identified 90% of cases, can be considered to be a good screening allergen. The high number of cases of ACD caused by (meth)acrylates in nail cosmetic products certainly warrants better preventive measures at the occupational level, and specific regulation in the field of consumer safety.

Presence of Human Papillomavirus in Human Tissues and the Environment.

Human Papillomavirus is one of the most well-known pathogens having potential to cause both benign and malignant illnesses. The current controversy focuses on its continuity in non-epithelial tissues and the environment, and its ability to cause infection in these settings. This review addresses the virology aspects that contribute to its presence and resistance in humans and the environment.

Granuloma faciale of the scalp.

Granuloma faciale (GF) is an uncommon dermatosis with characteristic clinicopathological features. Extrafacial isolated GF is extremely rare. Pulsed dye laser (PDL) is a treatment option for GF to minimize the risk of scarring. We report a case of a 78-year-old male with an extensive GF of the scalp successfully treated with pulsed dye laser (PDL).

Surgical treatment of rhinophyma using carbon dioxide (CO2) laser and pulsed dye laser (PDL).

Rhinophyma is a slowly progressive, benign dermatological disorder of the nose. The most widely accepted theory is that rhinophyma is the end stage of chronic rosacea. The primary reason for its excision is cosmetic deformity. Many treatment modalities have been described, including CO(2) laser. This method provides a very dry surgical field, which allows the sculpting of the hypertrophic areas. Pulsed dye laser (PDL) is a safe and effective treatment, resulting in a significant improvement in erythema, telangiectases, symptoms and quality of life. We report the case of a 63-year-old Caucasian man with a 2-year history of rapid progression rhinophyma. The patient was submitted to five CO(2) laser sessions, followed by three PDL sessions. Favourable re-epithelization of the surfaces treated with CO(2) laser was achieved within a very short period of time. PDL post-treatment purpura lasted a medium of 12 days. After 12 months of follow-up the patient remains without evidence of relapse. To our knowledge, this is the first case described of treatment using a combination of the CO(2) laser and PDL.

Epidermal nevus syndrome associated with hypophosphatemic rickets.

Epidermal Nevus Syndrome (ENS) is characterized by epidermal nevi associated with abnormalities involving the nervous, skeletal, and other systems. Rarely, hypophosphatemic rickets has been observed in association with epidermal nevi. A patient with ENS with right-sided serpiginous skin lesions, generalized weakness, and diffuse osteopenia associated with hypophosphatemic rickets is described. Medical management was enough to correct the clinical picture. The pathogenic mechanism involved in the onset of hypophosphatemic rickets in ENS is not fully clarified. Different studies suggest that phosphaturia, caused by circulating factor(s), called "phosphatonin(s)," may be secreted by an epidermal nevus. The nature of the phosphaturic factor(s) is not well understood, but elevated levels of circulating FGF-23 were recently reported in one patient with hypophosphatemic rickets. The authors suggest that serum FGF-23 measurement be included in the workup of this kind of rickets because there is growing evidence that in these situations the epidermal nevi produce a phosphaturic factor.

Squamous cell carcinoma in a pregnant woman with recessive dystrophic epidermolysis bullosa.

We report the case of a pregnant woman with recessive dystrophic epidermolysis bullosa. During pregnancy, she presents with a large, rapidly growing, tumor on her right forearm, whose biopsy revealed an invasive squamous cell carcinoma. Amputation by the middle third of the forearm was performed at 21 weeks of pregnancy, without intra- or post-operative complications. The remainder of pregnancy was unremarkable and, at 36 weeks, she gave birth to a healthy baby. One month after delivery, a large lymph node conglomerate was detected in the right axilla, highly suggestive of metastatic disease and complete lymph node dissection was then performed. Despite the prompt institution of chemotherapy, the patient died a few months later due to metastatic disease.

NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders, resulting from a wide spectrum of mutations in the NF1 gene. The NF1 microdeletion syndrome is characterized by a more severe clinical presentation than the majority of NF1 patients, with facial dysmorphic features, cognitive impairment, developmental delay, early-onset neurofibromas, and an increased risk of malignant tumors. This report provides the phenotypical characterization of a young boy diagnosed with this syndrome.

Prognostic Significance of RAS Mutations and P53 Expression in Cutaneous Squamous Cell Carcinomas.

TP53 is considered the most commonly-altered gene in cutaneous squamous cell carcinoma (cSCC). Conversely, RAS mutations have been reported in a low percentage of cSCC. The objective of our study was to evaluate the frequency of p53 expression and RAS mutations in cSCC and correlate them with clinicopathological features and patient outcome. We performed immunohistochemistry for p53 and genetic profiling for RAS mutations in a retrospective series of cSCC. The predictive value of p53 expression, RAS mutations, and clinicopathological parameters was assessed using logistic regression models. The overall frequency of RAS mutations was 9.3% (15/162), and 82.1% of the cases (133/162) had p53 overexpression. RAS mutations rate was 3.2% (1/31) of in situ cSCCs and 10.7% (14/131) of invasive cSCCs. RAS mutations were more frequently associated with an infiltrative than an expansive pattern of invasion (p = 0.046). p53 overexpression was a predictor of recurrence in the univariate analysis. Our results indicate that RAS mutations associate with features of local aggressiveness. Larger studies with more recurrent and metastatic cSCCs are necessary to further address the prognostic significance of p53 overexpression in patients' risk stratification.

Description and management of cutaneous side effects during erlotinib and cetuximab treatment in lung and colorectal cancer patients: a prospective and descriptive study of 19 patients.

Erlotinib and cetuximab are human epidermal growth factor receptor inhibitors (EGFRI) that are approved in monotherapy for the treatment of patients with locally advanced or metastatic non-small cell lung cancer after failure of at least one prior chemotherapy regimen. Papulopustular eruptions are the most frequent adverse effect, their occurrence being associated with increased survival in some studies. We describe 19 patients who presented with a rash located mainly to the face and trunk, without presence of comedones, shortly after initiation of EGFRI therapy. We present our algorithm to manage these patients and their respective responses. We also report other therapeutic options and cutaneous alterations that may be seen.

Quality of life and rosacea: pulsed dye laser impact.

BACKGROUND: Rosacea is a chronic inflammatory eruption of the face that may significantly impair patients' lives, leading to considerable emotional distress and behavioral withdrawal from normal social interactions. The pulsed dye laser is a device that selectively targets oxyhemoglobin with proved efficacy in the treatment of vascular lesions, especially at purpuric doses. OBJECTIVE: We decided to evaluate the impact of the pulsed dye laser on rosacea patients' quality of life using the Dermatology Life Quality Index (DLQI) score. METHODS: Twenty-two patients with erythematotelangiectatic rosacea were enrolled in the study. They were asked to complete a DLQI questionnaire before and after three treatments. Erythema improvement was subjectively evaluated by two investigators who ranked it as equal, better or worse after the three treatments. RESULTS: A statistically significant improvement was observed in the DLQI score after three treatment sessions. All patients were judged by the investigators to have improved facial erythema. CONCLUSION: This study reinforces the idea that pulsed dye laser usage for the treatment of erythematotelangiectatic rosacea is very efficient, emphasizing that it also has the ability to improve rosacea patients' quality of life.

Eruptive keloids: spontaneous reactivation after 60 years.

An 84-year-old man with keloids since early adulthood, was referred to our clinic because of the recent appearance of erythematous, tumid plaques upon the old keloids and upon uninvolved skin. The plaques were located mainly on the trunk in a linear distribution. On the back there were round, nodular, erythematous nodules and plaques, with central crusts, that had just appeared on normal skin. A skin biopsy was performed on the plaques that appeared over the older lesions. The histological appearance was consistent with keloid. Similar histology was found in a biopsy taken from a plaque that had erupted on normal skin.

Comparative effectiveness of purpuragenic 595 nm pulsed dye laser versus sequential emission of 595 nm pulsed dye laser and 1,064 nm Nd:YAG laser: a double-blind randomized controlled study.

INTRODUCTION: Erythematotelangiectatic rosacea is a common condition in Caucasians. The most frequently used lasers to treat this condition are pulsed dye laser (PDL) and neodymium:yttrium-aluminum-garnet laser (Nd:YAG). This study compares the treatment efficacy of purpuragenic PDL with that of sequential emission of 595 nm PDL and 1,064 nm Nd:YAG (multiplexed PDL/Nd:YAG). METHODS: We performed a prospective, randomized, and controlled split-face study. Both cheeks were treated, with side randomization to receive treatment with PDL or multiplexed PDL/Nd:YAG. Efficacy was evaluated by spectrophotometric measurement, visual photograph evaluation, the Dermatology Quality of Life Index questionnaire, and a post-treatment questionnaire. RESULTS: Twenty-seven patients completed the study. Treatment was associated with a statistically significant improvement in quality of life (p < 0.001). PDL and multiplexed PDL/Nd:YAG modalities significantly reduced the erythema index (EI; p < 0.05). When comparing the degree of EI reduction, no differences were observed between the two treatment modalities. PDL was associated with a higher degree of pain and a higher percentage of purpura. Multiplexed PDL/Nd:YAG modality was associated with fewer side effects and greater global satisfaction, and 96.3% of the patients would recommend this treatment to a friend. CONCLUSIONS: Both laser modalities are efficacious in the treatment of erythematotelangiectatic rosacea. The multiplexed PDL/Nd:YAG modality was preferred by the patients.

Ungual Tuberculosis: A Unique Clinical Case.

Cutaneous manifestations of tuberculosis (TB) are rare, particularly from an exogenous source. Involvement of the nail apparatus is extremely rare and has only previously been reported as a secondary involvement. We report the case of a 76-year-old female patient referred to our department with onychodystrophy with purulent drainage of the first left finger, which had developed during the preceding year. She had no previous traumatic history and had received treatment with multiple cycles of oral antibiotics and antimycotics, with no clinical improvement. Physical examination showed paronychia and onychodystrophy of the entire nail plate. Biopsy evaluation revealed epithelioid granulomas with central foci of necrosis, and laboratory cultures were positive for Mycobacterium tuberculosiscomplex. Chest computed tomography excluded primary pulmonary TB. X-ray of the left hand revealed the presence of dactylitis on the distal phalanx. Based on these findings, the patient was treated with rifampicin, isoniazid, pyrazinamide, and ethambutol for 2 months and with rifampicin and isoniazid for 7 months, resulting in complete resolution of the lesions. Cutaneous TB is a diagnostic challenge, particularly in rare cases such as involvement of the nail apparatus. It should be considered as a diagnostic hypothesis in cases of painless paronychia with refractory purulent drainage and associated onychodystrophy.

Daylight photodynamic therapy in 25 patients with actinic keratosis and evaluation of efficacy by confocal microscopy.

BACKGROUND: Daylight photodynamic therapy (PDT) has been reported as having similar efficacy to conventional photodynamic therapy in actinic keratosis treatment. METHODS: 25 patients with actinic keratosis of the scalp and/or face were submitted to a daylight photodynamic therapy session. Adverse reactions were evaluated after one week and efficacy after 3 months. Confocal Microscopy was performed in 6 patients, before and one week after the treatment. Our aim was to compare our results with others studies and analyse the changes occurring in the epidermis and upper dermis with confocal microscopy. RESULTS: 76% of the patients were male. The mean age was 74.2 years. In 51.7% of patients the treatment site was the scalp. Mean cure rate at 3 months was 74%. Aesthetic results were excellent in all patients and only one patient reported mild pain during the 2 h exposure. Confocal Microscopy showed a normalization of the honeycomb pattern in all of the patients. CONCLUSIONS: This therapy has similar results to conventional photodynamic therapy and stands out for less discomfort, fewer adverse effects and better cost-effectiveness. Using confocal microscopy it's possible to in vivo demonstrate the efficacy of this method, with normalization of the honeycomb pattern in the epidermis following succcessful PDT.

Chromoblastomycosis associated with Fonsecaea pedrosoi in a carpenter handling exotic woods.

Chromoblastomycosis is a rare, hard to diagnose disease that arises mostly in the tropics, especially in humid areas, affecting mainly males and rural workers. It is characterized by verrucous plaques or nodules that are slow growing and attributed to infection by different pigmented (dematiaceous) fungi. Usually the infection develops after injury, being primarily located on the lower extremities. The authors present the case of a healthy, 60-year-old man observed with a one year history of an erythematous violaceous 5cm tumor located on the right thigh. A biopsy specimen for histopathology revealed single or clustered brown pigmented cells, with a single or double septum and thick cell walls. Cultural smears showed growth of Fonsecaea Pedrosoi. The patient was treated with oral itraconazole (200mg per day), with a good response and clinical cure in 6 months that left only an atrophic scar.

Neutrophilic eccrine hidradenitis in a patient with FOLFOX chemotherapy.

This case study describes a 37-year-old Caucasian male with pruritic papules and plaques-some with central erosion-on the arms, neck, and trunk that appeared after chemotherapy with FOLFOX (folinic acid, fluorouacil, and oxiliplatin) for colon cancer. A histological examination showed features of neutrophilic eccrine hidradenitis. To the best of our knowledge, this is the first reported case of neutrophilic eccrine hidradenitis due to FOLFOX.

Inverse psoriasis treated with ustekinumab.

Inverse psoriasis is characterised by the involvement of flexural skin folds. This form of psoriasis has distinct clinical and therapeutic features. This report refers to the case of a 48-year-old Caucasian man who was observed in our department, with a clinically and biopsy proven diagnosis of inverse psoriasis. For 2 years, the patient was treated with different combinations of corticosteroids, vitamin D analogues and methotrexate, with no satisfactory response. Given the lack of a clinical response and comorbidities, latent tuberculosis was excluded, and we started treatment with ustekinumab. We chose this biological agent because the patient was a long-distance truck driver and refused the possibility of autoinjections. The patient underwent three ustekinumab injections, which resulted in significant improvement of pruritus, erythaematous lesions and quality of life.