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1.
Skinmed ; 20(1): 18-21, 2022.
Article in English | MEDLINE | ID: mdl-35435821

ABSTRACT

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.


Subject(s)
Alphapapillomavirus , Papillomavirus Infections , Humans , Papillomaviridae , Papillomavirus Infections/complications , Papillomavirus Infections/pathology
2.
Oxf Med Case Reports ; 2020(8): omaa059, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32793363

ABSTRACT

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.

4.
Genes (Basel) ; 11(7)2020 07 06.
Article in English | MEDLINE | ID: mdl-32640663

ABSTRACT

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.


Subject(s)
Biomarkers, Tumor/genetics , Carcinoma, Squamous Cell/genetics , Mutation , Skin Neoplasms/genetics , Tumor Suppressor Protein p53/genetics , ras Proteins/genetics , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Biomarkers, Tumor/standards , Carcinoma, Squamous Cell/metabolism , Carcinoma, Squamous Cell/pathology , Female , Humans , Male , Neoplasm Metastasis , Skin Neoplasms/metabolism , Skin Neoplasms/pathology , Tumor Suppressor Protein p53/metabolism , Tumor Suppressor Protein p53/standards , ras Proteins/metabolism , ras Proteins/standards
5.
Article in English | MEDLINE | ID: mdl-32566957

ABSTRACT

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.


Subject(s)
Craniofacial Abnormalities/diagnosis , Intellectual Disability/diagnosis , Learning Disabilities/diagnosis , Neurofibromatoses/diagnosis , Child , Chromosome Deletion , Chromosomes, Human, Pair 17 , Craniofacial Abnormalities/complications , Humans , Intellectual Disability/complications , Learning Disabilities/complications , Male , Neurofibromatoses/complications
6.
Oxf Med Case Reports ; 2020(4): omaa022, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32477572
8.
Skin Appendage Disord ; 5(6): 386-389, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31799269

ABSTRACT

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.

9.
Pediatr Dermatol ; 36(5): 693-696, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31338855

ABSTRACT

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.


Subject(s)
Hematopoietic Stem Cell Transplantation , Job Syndrome/diagnosis , Job Syndrome/therapy , Child , Female , Humans
10.
Article in English | MEDLINE | ID: mdl-30901061

ABSTRACT

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.


Subject(s)
Facial Dermatoses/radiotherapy , Lasers, Dye/therapeutic use , Lasers, Solid-State/therapeutic use , Low-Level Light Therapy/methods , Patient Satisfaction/statistics & numerical data , Rosacea/radiotherapy , Double-Blind Method , Esthetics , Facial Dermatoses/pathology , Facial Dermatoses/physiopathology , Female , Humans , Male , Prospective Studies , Quality of Life , Risk Assessment , Rosacea/pathology , Rosacea/physiopathology , Severity of Illness Index , Treatment Outcome
11.
Dermatol Online J ; 25(1)2019 Jan 15.
Article in English | MEDLINE | ID: mdl-30710900

ABSTRACT

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.


Subject(s)
Foot Dermatoses/diagnosis , Hand Dermatoses/diagnosis , Leg Dermatoses/diagnosis , Lupus Erythematosus, Systemic/diagnosis , Skin Diseases, Vesiculobullous/diagnosis , Anti-Infective Agents/therapeutic use , Dapsone/therapeutic use , Erythema , Female , Foot Dermatoses/drug therapy , Foot Dermatoses/etiology , Foot Dermatoses/pathology , Glucocorticoids/therapeutic use , Hand Dermatoses/drug therapy , Hand Dermatoses/etiology , Hand Dermatoses/pathology , Humans , Leg Dermatoses/drug therapy , Leg Dermatoses/etiology , Leg Dermatoses/pathology , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/immunology , Lupus Erythematosus, Systemic/pathology , Skin Diseases, Vesiculobullous/drug therapy , Skin Diseases, Vesiculobullous/etiology , Skin Diseases, Vesiculobullous/pathology , Young Adult
12.
Photodiagnosis Photodyn Ther ; 25: 414-416, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30721758

ABSTRACT

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.


Subject(s)
Aminolevulinic Acid/therapeutic use , Keratosis, Actinic/drug therapy , Photochemotherapy/methods , Photosensitizing Agents/therapeutic use , Sunlight , Aged , Aged, 80 and over , Face , Female , Humans , Male , Microscopy, Confocal , Scalp , Severity of Illness Index
13.
J Am Acad Dermatol ; 80(3): 660-669.e6, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30165166

ABSTRACT

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.


Subject(s)
Carcinoma in Situ/genetics , Carcinoma, Squamous Cell/genetics , Neoplasm Recurrence, Local/genetics , Skin Neoplasms/genetics , Telomerase/genetics , Age Factors , Aged , Aged, 80 and over , Biomarkers, Tumor/genetics , Carcinoma in Situ/pathology , Carcinoma, Squamous Cell/secondary , Female , Humans , Lymphatic Metastasis , Male , Middle Aged , Mutation , Neoplasm Invasiveness , Predictive Value of Tests , Prognosis , Progression-Free Survival , Promoter Regions, Genetic , Retrospective Studies , Skin Neoplasms/pathology , Survival Rate
14.
Article in English | MEDLINE | ID: mdl-30564834

ABSTRACT

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.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Colonic Neoplasms/drug therapy , Hidradenitis/chemically induced , Hidradenitis/diagnosis , Adult , Fluorouracil/therapeutic use , Hidradenitis/therapy , Humans , Leucovorin/therapeutic use , Male , Organoplatinum Compounds/therapeutic use
16.
Contact Dermatitis ; 77(6): 356-359, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28504363

ABSTRACT

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.


Subject(s)
Allergens/adverse effects , Dermatitis, Allergic Contact/etiology , Dermatitis, Occupational/etiology , Methacrylates/adverse effects , Humans , Patch Tests , Portugal , Retrospective Studies
17.
Article in English | MEDLINE | ID: mdl-27695866

ABSTRACT

Introduction: It is well known that adequate hygiene is important for health. Even though this topic has drawn the attention of the media, little or no scientific investigation has been done. Methods: We performed a comparative questionnaire-based cross-sectional study in three groups: patients attending a dermatology outpatient clinic, patients attending an internal medicine consultation, and community members. Results: We analyzed a total of 446 questionnaires (249 from dermatology patients, 98 from internal medicine patients, and 99 from the community group). The three groups did not differ statistically in sex and age (p=0.070). The patients from the dermatology department had a higher education level. The number of weekly baths did not differ among the three groups (p=0.417). Hair hygiene did not differ between the three groups. The dermatology and internal medicine groups washed their hands more frequently than the community group (p=0.028). Conclusions: Comparing our results to the limited data available, we find that the population surveyed has better hygiene habits than those previously reported. We believe that hygiene habits should be discussed during office visits.


Subject(s)
Habits , Hygiene , Adult , Aged , Ambulatory Care Facilities , Cross-Sectional Studies , Dermatology , Female , Health Behavior , Humans , Internal Medicine , Male , Middle Aged , Surveys and Questionnaires
19.
BMJ Case Rep ; 20162016 May 24.
Article in English | MEDLINE | ID: mdl-27222277

ABSTRACT

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.


Subject(s)
Dermatologic Agents/administration & dosage , Psoriasis/drug therapy , Ustekinumab/administration & dosage , Dermatologic Agents/therapeutic use , Humans , Injections , Male , Middle Aged , Quality of Life , Treatment Outcome , Ustekinumab/therapeutic use
20.
An Bras Dermatol ; 90(2): 262-4, 2015.
Article in English | MEDLINE | ID: mdl-25831002

ABSTRACT

Lymphangiomas are congenital lymphatic malformations and cutaneous lymphangioma circumscriptum is the most common type. It is clinically characterized by clusters of translucent vesicles and the presence of dermoscopically yellow lacunae surrounded by pale septa, as well as reddish to bluish lacunae. In our case, the recently described hypopyon-like feature manifested, aiding in the sometimes difficult differential diagnosis of cutaneous lymphangioma circumscriptum with vascular lesions, further highlighting the importance of dermoscopy in what can be a diagnostic challenge.


Subject(s)
Lymphangioma/pathology , Skin Neoplasms/pathology , Adolescent , Axilla , Dermoscopy , Diagnosis, Differential , Humans , Male , Vascular Malformations/pathology
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