RCAAP Repository

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The overall increasing incidence of melanoma will very probably be the trend over the next two decades. This data stresses the need for new therapeutic resources, other than classic chemotherapy. Nevertheless, the treatment of advanced melanoma has been changed in the last decade due to novel therapeutic strategies, including immunotherapy with immune checkpoint inhibitors targeting cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and programmed cell death protein 1 (PD-1). Inhibition of these targets enhances immune host response against cancer and results in durable objective responses, establishing immunotherapy as standard treatment for BRAF wild-type melanoma patients in advanced stages (III – unresectable and IV – metastases at distant sites). Anti-CTLA-4, ipilimumab, was the first–in-class immune checkpoint inhibitor to show improvement in overall survival in advanced melanoma. Latter, anti-PD-1 agents, nivolumab and pembrolizumab, have improved tumour response and tolerability in comparison with ipilimumab. Differences in outcome are expected considering the distinct target of checkpoint inhibition pathways. In this setting, it is of utmost importance the assessment of efficacy by combined therapy and the identification of biomarkers capable of predicting response to anti-CTLA-4 and anti-PD-1. After a previous review on cancer biology and mechanisms of action of immune checkpoint inhibitors we will focus on the main data on the immune checkpoint inhibitors for melanoma currently available in daily practice.

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Cutaneous leishmaniasis may mimic other infections in overlapping endemic areas and timely treatment prevents dissemination of the parasite. The required histopathological and microbiological examinations are not always available, and can only give a deferred confirmation of the diagnosis. In contrast, reflectance confocal microscopy (RCM) allows real-time visualization till the level of papillary dermis. A 59-year-old Brazilian male presented with ulcerated plaques and tumors on the extremities. The clinical differential diagnosis included leishmaniasis and other infections with lymphocutaneous pattern of dissemination. RCM showed the characteristic picture of «eggs in a bird’s nest» which has been described in cutaneous leishmaniasis. The diagnosis of leishmaniasis was later confirmed by skin biopsy, in which Leishmania guyanensis was identified by parasitological examination. After treatment with liposomal amphotericin B, reassessment with RCM corroborated the clinical cure, showing an «empty nest» picture. In conclusion, RCM noninvasively provides useful information for diagnosis and follow-up of cutaneous leishmaniasis.

Introduction: Important dimensions such as personal experiences, attitudes toward disease, its causes and treatments, are not fully addressed in clinical trials. Focus group (FG) has emerged as an interesting and valuable tool in clinical research complementing this gap. The aim of this qualitative research was to assess in both caregivers and patients dealing with atopic dermatitis (AD) their attitudes, personal experiences and perspectives toward the disease and its topical treatment as well as the impact in quality of life (QoL).Material and Methods: For discussion sessions, 10 caregivers of children and 10 adult patients were recruited. Two sessions of FG took place with 3 main themes discussed: perspectives toward AD, topical treatments and the impact in QoL. All activities were recorded in video and the discussions and notes were then transcribed to a document, followed by transcripts analysis.Results: The best descriptive feelings in the moment of diagnosis where “concern” (30%) and “quality of life” (30%) for caregivers and patients, respectively. The actual “positive” emotion or state of mind toward the disease was “overcoming” for caregivers (21%) and “control” for patients (17%). The main “negative or neutral” emotion was “fear” for caregivers (13%) and “resignation” for patients (18%), but when projecting to their child, “frustration” (19%) was the most mentioned. In relation to topical treatments, the mean global satisfaction of caregivers was high for tacrolimus (8.5/10), except in the item “price”. In the case of patients, corticosteroids received a better score (8.0/10), with exception for “tolerability/adverse effects”. Features like “preventive treatment with reduction of flares” and “free of cortisone” were important for both participants in an “ideal topical medicine” setting. All participants showed high levels of negative impact in their QoL due to AD, with 47% and 64.6% considering scores of “very much” and “a lot” of interference, respectively.Conclusion: Qualitative studies in AD by FG are scarce and to our knowledge this is the first one gathering both adult patients and caregivers. The dimensions yielded by this approach are useful to complement data retrieved from clinical trials and to drive decisions from researchers and health authorities.

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Organ transplant recipients have a high risk of skin cancer associated with immunosuppressive therapy and ultraviolet radiation. The incidence of non-melanoma skin cancer, in particular is up to 65-times higher than for the normal population. Field cancerization of sun- exposed skin is also a major health issue in these patients1.In Portugal there were 895 solid organ transplants in 2017, with the majority being kidney (529) and liver (259)2.   There are already several publications concerning skin cancer in Portuguese organ transplant recipients, reporting a prevalence of non-melanoma skin cancer ranging from 15% to 25% in renal transplant recipients3,4,5and 8% in one series6that included more liver transplant recipients with relatively less immunosuppression.The sunny geographical location and sun exposure habits, namely the poor knowledge and adherence to photoprotective measures, such as hats, long-sleeved clothes or sunscreen while on outdoor work or leisure activities, pose serious difficulties for skin cancer prevention in this population. In one study concerning knowledge of sun protective measures in a population of Portuguese transplant recipients7, 29% did not know that their risk of skin cancer was increased, and 25% of those who went to the beach stayed there between 11.30 and 16:00 pm. Not surprisingly, only 8% consulted a dermatologist in the first year after transplant7.Different organizations like the Skin Care in Organ Transplant Recipients - Europe (SCOPE) or the International Transplant Skin Cancer Collaborative (ITSCC) together with institutions such as the British National Institute for Health and Clinical Excellence (NICE)8,9,10, recommend initial assessment of these patients by a dermatologist and providing them with education on photoprotection and self-examination of the skin. These patients also need regular follow-up with time intervals defined by their previous history of skin cancer and the presence of field cancerization of their sun-exposed skin. In such patients with previous skin cancer and detectable field cancerization, some authors11propose three months as time interval between appointments. Dedicated or specialist dermatology clinics for organ transplantation are recommended11,12,and have also been shown to improve compliance with photoprotection13. Their introduction in the main Portuguese referral hospitals for transplantation would allow earlier dermatological care, inclusion of dermatology among the specialties that collaborate in the transplant teams and reduction of the burden of skin cancer in these patients, saving lives and costs.   

Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care.

Vitamin D3 (cholecalciferol) is a steroid hormone precursor and is synthesised when skin is exposed to ultraviolet B radiation. It is also found in a limited number of foods, especially oily fish. The two main sources of vitamin D are sun exposure and oral intake, including vitamin D supplementation and dietary intake. Multiple factors can influence vitamin D status. Vitamin D has well known effects on calcium metabolism and is traditionally linked to the prevention of rickets in children and bone fractures in the elderly. Because vitamin D receptors are present in many organs and tissues, vitamin D may have extraskeletal effects. Vitamin D has gained much attention in research and clinical practice as a possible preventive factor for a wide array of chronic diseases. The authors reviewed the literature with the purpose of providing the practising dermatologist with a simple and succinct document relevant to everyday clinical practice. At the present time, the lack of quality evidence to support vitamin D evaluation and supplementation in dermatologic conditions is still striking.

Publicamos recentemente na Revista da Sociedade Portuguesa de Dermatologia e Venereologia, v.76, n.1 (2018) o artigo intitulado “Esporotricose e seu Polimorfismo Clínico: Um Caso com Lesões Ulceradas na Região Centro Facial em Paciente Adulto”. Na parte de RELATO DE CASO, na página 87, parágrafo 3, continuando até a página 88, parágrafo 1: “... e sorologia para esporotricose, IgG SsCBF (técnica de ELISA, desenvolvida no Hospital Universitário Pedro Ernesto, através de método de cromatografia)”. Gostaríamos de reparar a descrição da técnica utilizada para o sorodiagnóstico da esporotricose. Neste trabalho, foi utilizado o teste de ELISA com o antígeno SsCBF (Sporothrix schenckii Con A-Binding Fraction), que é uma glicoproteína de parede celular da fase leveduriforme do S. schenckii. Essa técnica foi desenvolvida1 e validada2,3 no Instituto de Biologia Roberto Alcantara Gomes (IBRAG) na Universidade do Estado do Rio de Janeiro (UERJ). Esse teste apresenta elevadas taxas de sensibilidade (90%) e especificidade (80%),2 além de exibir uma efetiva correlação clínico-sorológica.4

Introduction: Biologic drug survival in psoriasis is mainly limited by a decrease of effectiveness over time. Strategies to improve retention rates are needed. Our purpose was to evaluate the efficacy and tolerability of concurrent narrowband ultraviolet- B (NB-UVB) or photochemotherapy (PUVA) to salvage the biologic drug in secondary non-response.Methods: Retrospective cohort study of 18 adults with moderate-to-severe plaque psoriasis treated with biologics who received concurrent phototherapy after a secondary efficacy loss.Results: Twelve patients underwent PUVA concurrently with etanercept and adalimumab in 13 and 5 cycles, respectively. Clinical response was observed in 72.2% of cycles (PASI75 55.5%). Median PASI decreased by 73%. Sustained response was observed for 25 months (median). A malignant melanoma was identified during follow-up. Six patients underwent NB-UVB concurrently with etanercept, adalimumab and ustekinumab in 7.3 and 2 cycles, respectively. Clinical response was observed in 75% of cycles (PASI75 41.7%). Median PASI decreased by 80%. Sustained responde was observed for 21 months (median).Conclusions: This study adds real-life evidence that PUVA and NB-UVB are effective options to salvage and improve the long-term performance of biologic drugs. Further efficacy and safety data, especially addressing the skin malignancy risk, should be sought to clarify the role of this interesting approach in the modern era of improved biologic therapies.

Phacomatosis pigmentokeratotica is a rare variant of the epidermal nevus syndrome, characterized by the association of a nevus sebaceous with nevus spilus and extracutaneous manifestations, which often involve the central nervous system, the skeleton or the kidneys. We report a patient who presented a congenital extensive nevus sebaceous in the head following the Blaschko lines, multiple speckled lentiginous nevus in the right hemibody, and skeleton abnormalities due to hypophosphatemic rickets. We emphasize the importance of understanding the epidermal nevus syndrome and its different clinical presentations, namely its extracutaneous manifestations, and we call the attention to cutaneous signs related to osteometabolic disorders.

Frontal fibrosing alopecia is a lymphocytic cicatricial alopecia characterized by progressive, symmetrical frontoparietal recess usually accompanied by loss of eyebrows. The etiology is unknown but hormonal factors may be implicated, as it is more prevalent in women (particularly among postmenopausal women) as well as environmental factors (all cases were reported in the last decades). Its increasing incidence and the irreversibility of this alopecia make it crucial to detect activity signs that are predictors of progression, determining, in such cases, an aggressive therapeutic approach. Based on a literature search the authors found the following factors that are predictors of progression: clinically, the diffuse variant of the disease and the fast development of alopecia worsen the prognosis; younger age of onset seems to correlate with a less severe disease course. In trichoscopy, perifollicular scaling and peri and interfollicular erythema are activity markers and probably, predictors of progression in frontal area but they are not observed in the temporal region even in cases of fast evolution.

Infantile hemangioma is the most common vascular tumor of childhood, characterized by an initial rapid growth in the first months of life and with gradual spontaneous involution in the first years. Despite its benign behavior and spontaneous regression, about 10% of infantile hemangiomas have a negative functional or cosmetic impact, thus requiring an effective treatment. In 2008, an accidental discovery of a favorable effect of propranolol, revolutionized the therapeutic approach of infantile hemangioma, consequently becoming the first-line treatment of this vascular tumor. In this article, we will briefly review the advances in the treatment of infantile hemangioma in the last decade and discuss the published research data regarding the clinical use of propranolol. In addition, other emerging treatments will be addressed, which may in the future extend the therapeutic armamentarium for infantile hemangioma.

The reconstruction of large defects of the glabella, especially when involving the forehead, is a surgical challenge. Surgical reconstruction of this location should take into account aesthetic subunits, avoid approximation of eyebrows and maintain symmetry of the face. The authors present a case with reconstruction of a surgical defect involving the glabella and the forehead after Mohs surgery. An A-T advancement flap to close the superior portion of the defect was combined with a rhomboidal transposition flap for closing the lower zone in order to maintain the distance between the eyebrows. Reconstruction by aesthetic subunits and the association of flaps allowed a good aesthetic and functional result.

Infantile hemangioma is a benign vascular tumor that frequently occurs at pediatric age, normally at a rate of 2% to 12% in Caucasian newborn babies, particularly in females. The International Society for The Study of Vascular Anomalies has divided these anomalies into two categories: vascular tumors and vascular malformations, including infantile hemangioma among benign vascular tumors. Clinical evolution is characteristic, and consists of a proliferative phase and a spontaneous involution phase. Diagnosis is usually clinical, but sometimes other diagnostic procedures may eventually be necessary. The majority of infantile hemangioma has a favorable outcome and spontaneous resolution. However, in some cases there are local or systemic complications, with the need for additional therapeutic intervention in case of vital, functional or esthetic risks. Oral propranolol is the current treatment of choice for infantile hemangioma, being the only treatment internationally approved for this indication. It should be started as early as possible to maximize efficacy and avoid potential complications. Other therapeutic options can be considered as a second choice, such as oral, topical or intralesional corticosteroids, topical beta-blockers, pulsed-dye laser or surgery.

Introduction: Congenital ichthyoses are a heterogeneous group of hereditary genetic disorders that occur due to a defective keratinization and consequent disruption of the skin barrier function. Although rare, they are presented as a diagnostic and therapeutic challenge. This study aimed to characterize clinically and genotypically the cases of non-syndromic congenital ichthyoses and to evaluate possible genotype-phenotype relation based on the most recent data in the literature.Methods: We performed a retrospective study in which all cases with clinical diagnosis and genetic confirmation of non-syndromic congenital ichthyoses were included in the Pediatric Dermatology Multidisciplinary Consultation of Hospital D. Estefânia of the Centro Hospitalar e Universitário de Lisboa Central.Results: A total of 11 patients aged between 20 months and 16 years were analyzed. Four had the X-linked recessive form with a mutation in the steroid-sulphatase gene, three of which typically manifested by the appearance at birth of generalized gray polygonal desquamation and one with milder manifestations of xerosis and eczema. The remaining seven patients had an autosomal recessive form, four of them mutated in the TGM1 gene, two in ALOX12B and one in CYP4F22. Regarding the evolution and prognosis, the same mutated gene was responsible for a broad spectrum of clinical manifestations, emphasizing the difficulty in establishing a genotype-phenotype relationship for these patients.Conclusion: Advances in genetics have been fundamental for better compression of the pathophysiology and clinical evolution of congenital ichthyoses. However, given the broad phenotypic spectrum associated with a mutation in the same gene, the establishment of a genotype-phenotype relationship, that would allow a correct prognosis, is not always possible. Although rare, the authors emphasize the importance of further studies in order to improve the quality of life of patients with these genodermatoses.

Leprosy is a chronic granulomatous disease with a long incubation period caused by Mycobacterium leprae that mainly affects the skin, mucous membranes and the peripheral nervous system. It carries the risk of per-manent sequels with a significant impact on the patient’s quality of life. It has a considerable clinically diver-sity and possible atypical presentations. We present a case of a 31-year-old, skin phototype V woman with multibacillary leprosy characterized by multiple outbreaks of erythema nodosum leprosum, as an inaugural manifestation of the disease. The disease was acquired within a group of children and adolescents from an endemic region of Africa, evolved untreated for 3 years, and presented with unusual features and remarkable lymphatic involvement. We highlight the importance of building and maintaining collaboration between expert centers and institutional partnerships in order to provide the adequate diagnostic resources and appropriate care to the affected populations.

Self-inflicted lesions include skin alterations caused by an abnormal behavior. They demand interdisciplinary involvement of health professionals. They are most common among middle-aged women. We report the case of a 42-year-old man with a diagnosis of an ulcerated lesion on the upper and lower lips, secondary to obsessive-compulsive behavior. Histopathological findings were non-specific and the results of laboratory tests performed showed no alterations. Joint evaluation by Psychiatry and Dermatology was initiated, with follow-up sessions of psychotherapy. Patient chose to abandon treatment. The importance of recognizing psychodermatoses for the dermatologist is emphasized, aiming at the early diagnosis and therapeutics, which will allow the prevention of destructive and mutilating lesions.