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- A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre SyndromePublication . Moura, AL; Regateiro, FS; Peres Resende, E; Coimbra Silva, H; Gonçalo, M; Todo-Bom, A; Faria, E
- Drug reaction with eosinophilia and systemic symptoms caused by spironolactone: Case reportPublication . Fernandes, RA; Regateiro, FS; Faria, E; Martinho, A; Gonçalo, Margarida; Todo‐Bom, A
- Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicismPublication . Gouveia, MP; Coutinho, I; Teixeira, V; d'Oliveira, R; Venâncio, M; Moreno, ADyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.
- [Allergic contact dermatitis to metals over a 20-year period in the Centre of Portugal: evaluation of the effects of the European directives]Publication . Teixeira, V; Coutinho, I; Gonçalo, MargaridaINTRODUCTION: Metals are a common cause of allergic contact dermatitis. After the introduction of the EU Nickel Directive (1994/27/CE; 2004/96/EC) and, more recently, the Cement Directive (2003/53/EC) there has been a significant decrease in sensitization to metals mainly in the Nordic countries. The applicability of these directives and their impact in the Portuguese population is unknown. MATERIAL AND METHODS: A retrospective study (1992-2011) was carried out in our patch test clinic to assess the temporal trend of metal sensitization (nickel [Ni], cobalt [Co] and chromium [Cr]) along the last 20 years, particularly considering age, sex and its relation with occupational activity. RESULTS: Out of 5 250 consecutively patch-tested patients, 1 626 (31%) were reactive to at least one metal (26.5% to Ni; 10.0% to Co and 7.9% to Cr). Women had a higher prevalence of sensitization to Ni (34.4% vs 8.9%) whereas men were more reactive to Cr (11.5% vs 5.0%). Nickel sensitization did not decrease significantly over the years, although in recent years among women sensitized to nickel the percentage of younger patients (16-30 years-old) is significantly lower (p < 0.001). Chromium sensitization significantly decreased, particularly in men (r = -0.535), and mainly in the construction workers (r = -0.639). Chromium reactivity associated with the shoe dermatitis has remained stable. DISCUSSION: We emphasize the higher and stable percentage of nickel sensitized individuals suggesting, so far, a low impact from the EU Ni directive, although a decreasing percentage in the the younger group among Ni sensitized women may suggest a beneficial effect is becoming evident is this age group. On the contrary, the impact of the directive regarding the modification of Cr in cement seems to be effective. There is now a need to regulate chromium content in leather products, namely in shoes. CONCLUSIONS: The regulation of interventional measures related either to the manufacture and trade of adornments or professional use will better protect the population of allergy to metals.
- Benign follicular tumorsPublication . Tellechea, O; Cardoso, JC; Reis, JP; Ramos, L; Gameiro, AR; Coutinho, I; Baptista, APBenign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.
- Development of a clinical score system for the diagnosis of photoallergic contact dermatitis using a consensus process: item selection and reliabilityPublication . Cazzaniga, S; Lecchi, S; Bruze, M; Chosidow, O; Diepgen, T; Gonçalo, M; Hercogova, J; Pigatto, PD; Naldi, LBACKGROUND: Photoallergic contact dermatitis (PACD) is an uncommon condition, and there is a lack of validated criteria for its diagnosis. OBJECTIVE: To identify a set of relevant criteria to be considered when suspecting a diagnosis of PACD and to assess the reproducibility of these criteria. METHODS: This was a diagnostic item selection and reliability study performed between July 2012 and October 2012. A panel of seven recognized experts was invited to consecutive rounds of a Delphi survey and to a conclusive face-to-face meeting with the aim of obtaining an agreement on criteria for the diagnosis of PACD. The panel was also provided with a series of 16 reports of suspected PACDs to be classified according to a five-point likelihood scale. Identified criteria with the weights attributed by experts were used to develop a score system for the diagnosis of PACD. Consensus was measured by calculating the Intraclass Correlation Coefficient (ICC). The performance of the score system was evaluated in terms of overall classification accuracy. RESULTS: Seven criteria were identified by experts as relevant for the diagnosis of PACD. The criteria were related to the type of skin lesions, accompanying symptoms, skin area involved, general medical history, modality of exposure to the culprit substance, history of exposure to the sun or other light sources and photopatch test results. Experts reached a moderate agreement on PACD cases classification, with ICC = 0.69 (95% Confidence Interval, CI, 0.50-0.86). The score system enabled discrimination of probable and definite PACD cases from possible and unlikely or excluded ones, with a nearly perfect agreement being observed between the score system classification and judgment by experts. CONCLUSION: A diagnostic score was proposed. The score should receive a comprehensive validation on a larger series of cases and with multiple evaluators.
- Childhood hypopigmented mycosis fungoides: a commonly delayed diagnosisPublication . Gameiro, A; Gouveia, M; Tellechea, O; Moreno, APrimary cutaneous lymphomas (PCLs) are exceedingly rare in children and adolescents, with mycosis fungoides (MF) being the most frequent PCL diagnosed in childhood. There are numerous unusual clinical variants of MF, including the hypopigmented type form (HMF). HMF is exceptional overall, but comparatively common among children. We present an 8-year-old boy with a 3-year history of progressive, generalised, scaly, hypopigmented round patches and few erythematous papules. He was first diagnosed with pityriasis alba (PA), and moisturisers were prescribed with no improvement. Skin biopsy showed typical features of MF, and the patient was successfully treated with narrowband ultraviolet B. HMF may simulate atopic dermatitis, PA, pityriasis lichenoides, tinea versicolour, vitiligo, postinflammatory hypopigmentation or leprosy. Therefore, persistent and unusual hypopigmented lesions should be biopsied to rule out this rare variant of MF.
- Tourette's syndrome and associated disorders: a systematic reviewPublication . Ferreira, BR; Pio-Abreu, JL; Januário, CTo compile data on Tourette's syndrome (TS), tics and associated disorders. METHODS: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies), based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included. RESULTS: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders. CONCLUSIONS: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance.
- Bowel-associated dermatosis-arthritis syndrome in an adolescent with short bowel syndromePublication . Pereira, E; Estanqueiro, P; Almeida, S; Ferreira, R; Tellechea, O; Salgado, MBowel-associated dermatosis-arthritis syndrome (BADAS) is a neutrophilic dermatosis, characterized by the occurrence of arthritis and skin lesions related to bowel disease with or without bowel bypass. We report an unusual case of BADAS in a 15-year-old white male with congenital aganglionosis of the colon and hypoganglionosis of the small intestine and multiple bowel surgeries in childhood complicated by short bowel syndrome. He presented with recurrent peripheral polyarthritis, tenosynovitis, and painful erythematous subcutaneous nodules located on the dorsolateral regions of the legs and on the dorsa of the feet. Histological examination disclosed a neutrophilic dermatosis confirming the diagnosis of BADAS.Although an uncommon disease, especially at pediatric age, it is important to evoke the diagnosis of BADAS in children and adolescents with bowel disease, because treatment options and prognosis are distinct from other rheumatologic conditions.
- Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutationPublication . Pinho, AC; Gouveia, MJ; Gameiro, AR; Cardoso, JC; Gonçalo, MargaridaBACKGROUND: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis. MAIN OBSERVATIONS: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband. CONCLUSIONS: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".