Case for diagnosis. A pruritic eruption of keratotic papules over the face and neck

Abstract Generalized eruptive keratoacanthoma of Grzybowski is a rare variant of multiple keratoacanthomas counting with about 40 cases reported. It is a chronic and progressive disease for which none of the described therapeutic options has been entirely satisfactory. We report a case of an 83-year-old female who presented with a 3-month history of extremely pruritic, multiple, skin-coloured to erythematous to brownish, millimetric papules, with a keratotic centre. Histological examination of an incisional biopsy was consistent with the diagnosis of keratoacanthoma. The patient started acitretin 25 milligrams daily with a complete resolution of pruritus and regression of numerous lesions.

Bilateral retinal detachment - when the kidney meets the eye / Descolamento de retina bilateral - quando o rim afeta o olho

ABSTRACT Exudative retinal detachment occurs when fluid accumulates between the neurosensory retina and the retinal pigment epithelium. Ocular diseases or multisystem conditions such as nephrotic syndrome may lead to exudative retinal detachment. This report describes a case of nephrotic syndrome secondary to minimal change disease, anasarca and bilateral serous macular detachment in an adult patient. A 75-year-old male patient presented to the emergency department with generalized edema, asthenia, and visual impairment. Medical history included a recent diagnosis of nephrotic syndrome secondary to minimal change disease, which had been controlled with corticosteroid therapy. At presentation, best corrected visual acuity was 20/100. Slit-lamp examination revealed xanthelasmas and mild bilateral eyelid edema and chemosis. Dilated fundus examination confirmed bilateral macular detachment. The patient did not respond to diuretic therapy. Ttherefore, hemodialysis was started. Two months later, visual acuity improved to 20/25 and near normal restoration of retinal anatomy was achieved, with concurrent remission of proteinuria. Exudative retinal detachment is a multifactorial condition. However, in diseases associated with severe hypoalbuminemia, such as nephrotic syndrome, low oncotic pressure in choroidal vessels and high interstitial pressure in the choroid may explain retinal detachment. Patients with chronic kidney disease carry a high risk of ophthalmic disease development. Several mechanisms that affect ocular vessels, the retina and the choroid are thought to be involved. A multidisciplinary approach is crucial to resolve the ophthalmic condition and improve overall health.

RESUMO O descolamento de retina exsudativo ocorre quando o fluido se acumula entre a retina neurossensorial e o epitélio pigmentado da retina. Patologias oculares isoladas ou doenças multissistêmicas, como a síndrome nefrótica, podem levar ao descolamento de retina exsudativo. Apresenta-se aqui o caso de um adulto com síndrome nefrótica por doença de lesões mínimas, anasarca e descolamento de retina exsudativo macular bilateral. Trata-se de um homem de 75 anos de idade, que recorreu ao serviço de urgência com edema generalizado, astenia e diminuição da acuidade visual. Os antecedentes pessoais incluíam diagnóstico recente de síndrome nefrótica secundária à doença de lesões mínimas, em uso de corticoterapia. Na apresentação, a melhor acuidade visual corrigida era 20/100. A biomicroscopia revelou xantelasmas, edema palpebral leve e quemose nos dois olhos. Fundoscopia mostrou descolamento macular bilateral. O doente iniciou diuréticos com pouca resposta clínica, tendo sido adicionada hemodiálise. Verificou-se melhora da acuidade visual para 20/25 e restauração quase total da anatomia da retina 2 meses após o início do tratamento, coincidindo com a remissão da proteinúria. A fisiopatologia dos descolamentos de retina exsudativos é multifatorial, mas, em doenças com hipoalbuminemia grave, como a síndrome nefrótica, a baixa pressão oncótica e a alta pressão intersticial na coroide podem explicar o descolamento macular exsudativo. Doentes com doença renal crônica constituem um grupo de risco para o desenvolvimento de doença ocular, envolvendo vários mecanismos que afetam vasos, retina e coroide. Uma abordagem multidisciplinar é crucial para a melhoria da doença oftalmológica e do estado geral do doente.

Doença de Behçet ocular: a nossa realidade / Behçet disease: our experience

Resumo Objetivo: A doença de Behçet é uma vasculite inflamatória sistémica, de etiologia desconhecida. Pode atingir virtualmente todos os sistemas, sendo as manifestações oculares comuns. O objectivo deste trabalho foi analisar doentes com doença de Behçet ocular quanto aos parâmetros demográficos, manifestações clinicas, terapêutica e principais complicações. Métodos: Estudo descritivo e retrospetivo, que incluiu 11 doentes com o diagnóstico de doença de Behçet ocular, segundo os critérios do ISG, observados na consulta de Inflamação Ocular do Hospital Prof. Doutor Fernando da Fonseca nos últimos 3 anos. Resultados: Identificaram-se 11 doentes, 5 homens e 6 mulheres, todos caucasianos. A idade média ao diagnóstico foi de 33,45±6,49 anos. A manifestação ocular foi o primeiro sinal da doença em 2 doentes. Em 72,7% dos casos as manifestações oculares foram bilaterais. Identificaram-se 4 casos de panuveíte, 3 de uveíte posterior, 2 de uveíte anterior, 1 de queratite e 1 caso de episclerite. O glaucoma e a catarata foram a complicação ocular mais frequente. O tratamento sistémico incluiu a corticoterapia oral em associação com terapêutica adjuvante imunossupressora, sendo os mais utilizados a azatioprina e a ciclosporina. Em 3 doentes houve necessidade de terapêutica biológica com infliximab para controlo da doença. Conclusão: A manifestação ocular mais frequente foi a panuveíte. Esta doença pode condicionar complicações oculares com diminuição irreversível da acuidade visual. A orientação destes doentes exige uma abordagem global e interdisciplinar.

Abstract Objective: Behçet's disease is a systemic inflammatory vasculitis of unknown etiology. It can virtually reach all systems, being common ocular manifestations. The aim of this study was to analyze patients with ocular Behcet's disease regarding demographic parameters, clinical manifestations, therapeutic approach and main complications. Methods: Descriptive and retrospective study, including 11 patients diagnosed with ocular Behcet's disease, according to the ISG criteria, observed in the Ocular Inflammation appointment of the Hospital Prof. Doutor Fernando da Fonseca in the last 3 years. Results: We identified 11 patients, 5 males and 6 females, all caucasian. The mean age at diagnosis was 33.45 ± 6.49 years. Ocular manifestation was the first sign of the disease in 2 patients. In 72.7% of the cases, ocular manifestations were bilateral. There were four cases of panuveitis, 3 of posterior uveitis, 2 of anterior uveitis, 1 of keratitis and 1 case of episcleritis. Glaucoma and cataract were the most frequent ocular complications. Systemic treatment included oral corticosteroid therapy in combination with adjuvant immunosuppressive therapy, and the most commonly used was azathioprine and cyclosporine. In 3 patients there was a need for biological treatment with infliximab to control the disease. Conclusion: The most frequent ocular manifestation was panuveitis. This disease can promote eye complications with an irreversible decrease in visual acuity. Orientation of these patients requires a global and interdisciplinary approach.

Metastatic Crohn's disease despite infliximab therapy

Abstract Metastatic Crohn's disease is a rare extraintestinal manifestation of Crohn's disease. It is characterized by polymorphic skin lesions formed by non-caseating granulomas located on anatomical sites distant from the gastrointestinal tract. We report a rare case of metastatic Crohn's disease, simultaneously displaying multiple clinically heterogeneous cutaneous lesions, in a patient with previously diagnosed Crohn's disease in remission due to anti-TNF-α use. This case highlights the need for high clinical suspicion and early biopsy in the setting of a patient with Crohn's disease and persistent skin lesions, even under biologic therapy. Furthermore, it reinforces the need of monitoring of the serum level of infliximab, increasing the dose in case it is low or undetectable.

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Abstract Dyspigmentation 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.

Sarcoidose ocular: a nossa realidade nos últimos seis anos / Ocular sarcoidosis: our reality for the past six years

RESUMO Introdução: Na sarcoidose, as manifestações oculares são comuns e podem constituir a manifestação inicial da doença ou mesmo a única. O objetivo deste trabalho foi analisar os parâmetros demográficos, manifestações clínicas, terapêutica e principais complicações oculares em doentes com sarcoidose ocular. Métodos: Estudo descritivo e retrospectivo que incluiu doentes com o diagnóstico de sarcoidose ocular, observados nas consultas de Inflamação Ocular e de Doenças Auto-Imunes do Hospital Prof. Doutor Fernando Fonseca, no período entre 2009 e 2015. Resultados: Foram identificados 11 doentes com o diagnóstico de sarcoidose ocular, com predomínio do sexo feminino (54,5%) e caucasianos. A média da idade ao diagnóstico foi de 45±14 anos. A sarcoidose manifestou-se de forma exclusivamente ocular em 36% dos casos. O envolvimento ocular foi a manifestação inicial em 90,9% dos casos. Identificaram-se 9 casos de uveíte, 1 de esclerite anterior nodular e 1 de queratite intersticial. O tratamento com corticoterapia tópica foi realizado em 100% dos casos, sendo o tratamento único em apenas 1 doente. Nos restantes, foi necessário associar corticoterapia oral. Em 4 desses doentes, pela gravidade da doença e atingimento binocular, utilizou-se também corticoterapia pulsada endovenosa. O tratamento adjuvante imunossupressor mais frequentemente utilizado foi o metotrexato (45%). Um doente necessitou de terapia biológica com infliximabe para controle da doença. Conclusão: A manifestação ocular mais comum foi a uveíte, com predomínio da panuveíte. O tratamento mais utilizado e com maior taxa de controle da doença foi a corticoterapia sistêmica em associação com o metotrexato.

ABSTRACT Purpose: In sarcoidosis, ocular manifestations are common and can be the initial or even the only clinical manifestation. The aim of this study was to analyze the demographic parameters, clinical manifestations, treatment and the major ocular complications in patients with ocular sarcoidosis. Methods: We conducted a descriptive and retrospective study that included patients with the diagnosis of ocular sarcoidosis, followed by inflammatory ophthalmology and immune-mediated disease consults at the Prof. Doutor Fernando Fonseca Hospital, between 2009 and 2015. Results: Eleven patients with the diagnosis of ocular sarcoidosis were identified, with a predominance of females (54,5%) and Caucasians. The average age at diagnosis was 45 ± 14 years. Sarcoidosis was exclusively ocular in 36%. The first manifestation of sarcoidosis was eye disease in 90.9 % of cases. Nine cases of uveitis, one of nodular scleritis and one of interstitial keratitis were observed. Topical corticoid treatment was applied in 100% of cases, with only one achieving remission of the disease. Oral corticoid treatment was necessary in 10 cases, four of which needed a high dose methylprednisolone induction. Methotrexate was the adjunctive immunosuppressive treatment of choice in 45% of cases. There was one refractory case for conventional immunosuppressive therapy, having achieved remission with biologic agent infliximab. Conclusion: Uveitis was the commonest ocular manifestation, and there was a predominance of panuveitis. Systemic corticoid and methotrexate were the most used immunosuppressive treatments for maintaining the controlled stated of the disease.

Benign follicular tumors

Abstract: Benign 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.

Lower lip reconstruction with nasolabial flap - going back to basics

Squamous cell carcinoma of the lower lip is frequent, and radical excision sometimes leads to complex defects. Many lip repair techniques are aggressive requiring general anesthesia and a prolonged post-operative period. The nasolabial flap, while a common flap for the repair of other facial defects, is an under-recognized option for the reconstruction of the lower lip. We describe the use of nasolabial flap for the repair of a large defect of the lower lip in a ninety year-old male, with good functional results and acceptable cosmetic outcome. We believe the nasolabial flap is a good alternative for intermediate-to-large lower lip defects in patients with impaired general condition.

Multiple minute digitate hyperkeratosis - a peculiar entity

Multiple minute digitate hyperkeratosis is a rare, non-follicular dermatosis, with fewer than 30 cases described worldwide. It can be either acquired or inherited in an autosomal dominant pattern. We describe the case of an 83-year old patient with life-long, multiple, digitate, milimetric lesions, and a positive family history for the same dermatosis.

Frontal cutaneous meningioma - Case report

Cutaneous meningiomas are rare tumors most commonly located on the scalp. We report the case of a 55-year-old male who presented with a 2x3 cm tumoral lesion on the forehead. The lesion was hard, adherent and covered by normal skin. Incisional biopsy revelead a proliferation of monomorphic round cells, organized in nests and focally forming pseudovascular spaces. Immunohistochemical study revealed positivity for epithelial antigen membrane and vimentin. Vascular markers, cytokeratins and S100 protein were negative. A brain CT scan did not show any evidence of intracranial meningioma. The authors describe the case of a cutaneous frontal meningioma in probable relation with previous cranioencephalic trauma.

Generalized Lichen Nitidus in a boy with Niemann-Pick disease type B / Liquen nitido generalizado em paciente com doenca de Niemann-Pick tipo B

Generalized lichen nitidus is an uncommon chronic inflammatory dermatosis with very characteristic histological findings. Its pathogenesis is still unclear; very rarely it has been associated with genetic disorders. Herein we report the case of a 12-year-old boy with Niemann-Pick disease who developed generalized lichen nitidus.

Líquen nítido generalizado é uma dermatose inflamatória crônica, rara, com achados histológicos muito característicos. Sua patogênese não está completamente esclarecida e, muito raramente, tem sido associado a doenças genéticas. Reportamos o caso de um doente do sexo masculino, de 12 anos de idade, com Doença de Niemann-Pick, que desenvolveu líquen nítido generalizado.

Case for diagnosis / Caso para diagnostico

Human scabies is an intensely pruritic skin infestation caused by Sarcoptes scabiei var. hominis. Crusted scabies (previously known as Norwegian scabies) is a rare form, very contagious and transmitted by direct contact with the skin. Despite being readily treatable, a delayed diagnosis often leads to widespread infestation of contacts, and therefore difficult to restrain. This case concerns a patient where dermoscopy (with scabetic burrows and a visible hand-glider structure), together with direct microscopic examination, allowed a prompt diagnosis, thereby reinforcing the increasing importance of this technique in daily practice.

A escabiose ou sarna humana é uma infestação cutânea intensamente pruriginosa causada por Sarcoptes scabiei var hominis. A sarna crostosa (previamente conhecida como sarna norueguesa) é uma forma rara, muito contagiosa e transmitida pelo contacto direto com a pele. Apesar de eficazmente tratável, um atraso no diagnóstico leva muitas vezes ao contágio e infestação dos contactos, o que dificulta a contenção dos surtos. Apresentamos o caso de um doente onde os achados dermatoscópicos (sulcos escabióticos e estruturas em asa delta), confirmados pelo exame parasitológico direto, permitiram um rápido diagnóstico, reforçando o papel crescente que esta técnica assume na prática clínica.