RCAAP Repository

Psoriasis is a chronic inflammatory disease frequently seen in dermatologic practice. Although it is possible to control the majority of patients using only topical therapies, a significant percentage is refractory to these treatments, requiring systemic therapies. In these cases, one of the possible options is phototherapy. This paper details the various available therapeutic modalities of phototherapy in the treatment of psoriasis and the most frequently used protocols.

Concerning the premium «dermatologist from the Heart» awarded by the Fondation La Roche Posay in 2014, we put into practice the winning project "Corvo Island Dermatology". The project’s main objective was to perform a screening of the skin in an area of the country with difficult geographical accessibility to specialized health care. The island has a single doctor, a general practitioner - Dr. José Pinto Faustino. The screening was performed for 5 days, between 13 and 18 July 2015 in the Health Unit of Corvo. There were attended 120 people living on the island that were observed by 2 participant dermatologists. No skin diseases with statistical significance were detected.

In the last 35 years, major progresses have been accomplished in the prevention, diagnosis and treatment of HIV infection, with reduction of the incidence of infection in Portugal, in the last decade. Nevertheless, there is still a high rate of late diagnosis, with individual and populational adverse outcomes. This paper aims to: present the current situation of HIV infection in Portugal, briefly review the natural course of HIV infection and exhibit the most recent HIV laboratory diagnostic testing algorithm, reviewed in 2014, strengthening the need of maintaining a high grade of clinical suspicion for early diagnosis of infection.

Infection by cytomegalovirus has worldwide distribution with high prevalence in developing countries, where it reaches almost 100% of the population. Cutaneous manifestations are rare. Moreover, unspecific presentation of dermatological lesions may contribute to subdiagnosis of the disease. We report a case of a 24 years-old female patient, severely immunocompromised, with ulcerations on the skin with 4 months of evolution, diagnosed with human immunodeficiency virus type 1 infection two months after the onset of lesions. In the third week of hospitalization she developed an acute cytomegalovirus retinitis, and despite initiation of anti-retroviral and anti- cytomegalovirus treatment initiation, she died after three months with an acute pericarditis.

Herpes zoster is an infectious disease caused by the reactivation of the varicella zoster virus in the cranial or dorsal sensorial ganglia, characterized by a vesicular skin rash affecting one or more dermatomes. It is more common in the elderly, in association with the decline of the cell-mediated immunity in advanced age. In young adults, herpes zoster infection correlates more frequently with clinical conditions of low immunity. This paper reports a clinical case of herpes zoster with an atypical presentation, both with regard to the location and the high number of recurrences in a young immunocompetent female patient. The author discusses the case, based on the current scientific evidence, emphasizing the symptoms, clinical presentation, differential diagnosis, impact on quality of life and management.

Extra-articular manifestations in patients with rheumatoid arthritis are common. Subcutaneous nodules appear in almost 8% of users of methotrexate with rheumatoid arthritis. Methotrexate, one of the recommended drugs in this disease, may cause unwanted effects such as accelerated nodulosis. This complication is an important differential diagnosis in subcutaneous nodules rapidly evolving in rheumatoid arthritis patients on methotrexate and TNF inhibitors. Early diagnosis is essential for a forehand treatment. We describe a case of accelerated nodulosis associated with the use methotrexate and etanercept in patients with rheumatoid arthritis.

Gorlin-Goltz syndrome is a rare autosomal dominant disorder caused by mutation in the gene PTCH1 (patched homolog 1 (Drosophila)), a tumor suppressor gene. The classic triad described by Gorlin and Goltz in 1960 is composed of multiple basal cell carcinomas, odontogenic keratocysts and bifid ribs, but many other changes may be present, such as palmoplantar pits, calcification of the falx cerebri, rare tumours such as medulloblastoma, congenital malformations, macrocephaly and various skeletal changes. Diagnosis is based on clinical, radiological and presence of first-degree relative with the syndrome. We describe two cases that illustrate the need for a rigorous clinical examination, radiological investigation and multidisciplinary follow-up after clinical suspicion, because life expectancy is not usually affected, but the potential morbidity can be considerable.

Graham-Little-Piccardi-Lasseur Syndrome (SGLPL) is characterized by a progressive multifocal scarring alopecia of the scalp associated with disseminated follicular hyperkeratosis and non-scarring axillary and pubic hypotrichosis. These clinical aspects may occur simultaneously, although alopecia of the scalp often precedes the other findings in months to years. It affects mainly adult females and is considered a rare disease. Treatment is challenging with many suggested medications but with controversial results. We report the case of a female patient with an area of alopecia in the right parietal region, paravertebral violaceous pruritic polygonal papules, hyperchromic macules with white reticular lesions on the oral mucosa as well as a slight hypotrichosis of the axillae. A slight improvement was observed after oral hidroxizine associated with topical clobetasol propionate and intralesional betamethasone in the limits of the alopecic area.

Peeling skin syndrome (PSS) is a rare genodermatosis of autosomal recessive inheritance caused by mutations in CDSN, TGM5 or CHST8, depending on the type of disease. It is characterized by localized or generalized superficial peeling of the skin, with or without erythema and itching. Concerning to the generalized form, Heiko Traupe proposed distinction between noninflammatory (type A) and associated with congenital erythroderma (type B). Mevorah described the type C, with features similar to type B. Noninflammatory type is characterized for continuous spontaneous clearance areas of stratum corneum, which begins at birth or during childhood. We describe a 19 year’s old male patient, with skin peeling of the neck, trunk and upper limbs since childhood and a similar dermatoses in the family.

Spiny keratoderma is a rare dermatosis of unknown etiology that has been described with both hereditary and acquired variants. The acquired form has been associated with underlying malignancy and systemic diseases. We report a case of a 65-year- -old caucasian male presenting with multiple filiform hyperkeratotic papules in the palmar aspect of his hands which were present for the past year. Skin biopsy revealed aspects compatible with spiny keratoderma. After 10 months of follow-up, the patient developed mycosis fungoides, staged as IB according to the European Organization for Research and Treatment of Cancer and treated with PUVAtherapy with good control of both dermatosis. The authors raise the hypothesis of a new paraneoplastic association of spiny keratoderma.

Dermatosis neglecta is characterized by accumulation of sebum, sweat, keratin and impurities due to inadequate skin cleansing, hyperesthesia and immobility secondary to trauma and/or surgery. Recognizing this condition avoids unnecessary, aggressive diagnostic and therapeutic procedures. We report a case of dermatosis neglecta in a patient with neglected hygiene in an area of previous surgery.

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Three types of hereditary angioedema (HAE) have been described within the spectrum of idioptahic nonhistaminergic angioedema. Type I and II related with C1-INH (C1-esterase inhibitor) deficiency is more frequent and type III is rare, occurs mostly in young women, without C1 inhibitor (C1-INH) alterations, and may be associated with mutations in the factor XII gene. Trauma, stress and estrogen may be the precipitants, treatment is still a challenge due to the absence of controlled studies. We present a case of possible type III HF in a young woman, aggravated by the introduction of anti-conception and improvement with its suspension and treatment with tranexamic acid, but without a family history or a factor XII mutation.

Introduction: Lichen planus pigmentosum is a variant of lichen planus observed mostly in India, the Middle East and Latin America. It usually begins in the third and fourth decade of life, with equal sex distribution and is more frequent in type III-V phototypes. Skin lesions are characterized by brownish, dark brown or brownish-gray, oval or rounded, usually symmetrical and bilateral macules.Case report: We observed a 12-year-old boy presenting typical clinical manifestations of lichen planus pigmentosum, however with an unusual clinical appearance around the eyes, resembling a sleeping mask.Conclusion: The case reported is particular due to the age of the patient and the peculiar arrangement of the lesions in the periorbicular area, resembling a "sleeping mask", which alerts to the possibility of differential diagnosis of hyperchromic and photosensitive lesions in the pediatric population.

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Rasopathies are a group of developmental diseases associated with mutations in the RAS/MAPK pathway. In the recent years, the study of intracellular signaling pathways allowed the characterization of this heterogeneous group of genetic disorders, with pleomorphic clinical manifestations, depending on the mutated gene. Rasopathies may be associated with cognitive impairment, cardiovascular disease, facial dysmorphism and cutaneous findings, as well as an increased risk of neoplasia. This group includes the Noonan syndrome, LEOPARD syndrome, neurofibromatosis type 1, Legius syndrome, Costello syndrome and cardiofaciocutaneous syndrome. It is important to recognize the cutaneous findings of rasopathies, which can help to establish the clinical diagnosis.

The increasing number of drugs used in dermatological a venereological practice demands from the dermatologist an updated knowledge on their safety. In the case of pregnant women or those breastfeeding, the decision on whether or not to prescribe a particular drug must be based on a thoughtful evaluation of the benefits for maternal health and the potential risks to fetus' or infant's well-being. Whenever these patients require topical or systemic therapies, most can be adequately treated with safe and effective options. This part of this article discusses the most recent data on the safety of some of the most commonly used topical drugs in the dermatological context, in women of childbearing age.

Skin cancer is the most frequent cancer, with higher incidence in head and neck, due to chronic sun exposure. The risk of neck metastasis depends on their histology and staging. Melanoma and Merkel carcinoma with N0 neck stage, have a probability of locorregional micrometastases around 20% and from 20-50% respectively. Squamous cell carcinoma has a risk from 5 up to 20%. However, there are several factors, including staging model limitations, that turn assessment of squamous cell carcinoma metastasis cumbersome. The use of sentinel lymph node biopsy and follow-up protocols are also debatable.