Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs

Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.

Infections and systemic lupus erythematosus / Infecções e lúpus eritematoso sistêmico

ABSTRACT Objective To determine the incidence of infections in a population of systemic lupus erythematosus individuals and the characteristics of infections regarding original site, as well as to study the possible associations between infections and treatment. Methods An analytical retrospective study using data from medical charts of systemic lupus erythematosus patients from a single university hospital. A total of 144 patients followed up for five years were included. Data collected comprised age of patients and age at onset of lupus, sex and ethnicity, disease duration before the study period, medications, cumulative dose of prednisone, occurrence of infections and their original site. Results The most frequent infections were urinary tract infections (correlated to use of prednisone − p<0.0001 and cyclophosphamide − p=0.045), upper airways infections (correlated to use of prednisone − p=0.0004, mycophenolate mofetil − p=0.0005, and cyclosporine − p=0.025), and pneumonia (associated to prednisone − p=0.017). Conclusion Prednisone was the drug more often associated with presence of infections, pointing to the need for a more judicious management of this drug.

RESUMO Objetivo Determinar a incidência de infecções em uma população com lúpus eritematoso sistêmico e a caracterização das mesmas quanto aos locais de origem, assim como estudar possíveis associações das infecções com a terapêutica utilizada. Métodos Estudo retrospectivo analítico utilizando dados de prontuários de indivíduos com lúpus eritematoso sistêmico de um único hospital universitário. Foram investigados 144 pacientes acompanhados pelo período de 5 anos. Os dados coletados incluíam idade do paciente e idade de início do lúpus, sexo e etnia, tempo de duração da doença antes do período do estudo, medicamentos administrados, dose cumulativa de prednisona, ocorrência de infecções e seu local de origem. Resultados As infecções mais observadas foram as do trato urinário (correlacionadas com o uso de prednisona − p<0,0001, e ciclofosfamida − p=0,045), infecções das vias aéreas superiores (correlacionadas com o uso de prednisona − p=0,0004, micofenolato de mofetila − p=0,0005 e ciclosporina − p=0,025) e pneumonia (correlacionadas ao uso de prednisona − p=0,017). Conclusão A prednisona foi o medicamento mais associado com a presença de infecções, apontando para a necessidade de um manejo mais judicioso desse medicamento.

Avaliação da exposição solar na intoxicação experimental por Brachiaria decumbens em ovinos / Evaluation of solar exposure in Brachiaria decumbens poisoning in sheep

Foram utilizados 26 ovinos, entre 3 e 4 meses de idade, divididos em 3 grupos, provenientes de rebanhos que nunca tiveram contato com pastos de Brachiaria spp.. Dois grupos receberam Brachiaria decumbens no cocho diariamente ad libitum, sendo que um deles permaneceu em área com exposição solar (GS) e o outro foi mantido em baias cobertas protegidos do sol (GSB). O grupo controle (GC) foi também mantido em local com exposição solar e alimentado com feno de Cynodon dactylon e capim Pennisetum purpureum triturado. Todos os grupos receberam alimentação em cochos e foram suplementados com 200g/dia/animal de ração comercial para ovinos. Foi realizada a avaliação clínica diária dos ovinos e colhidas amostras duas vezes por semana para dosagem sérica de AST e GGT. Os animais que morreram foram submetidos a necropsia e em todos os ovinos sobreviventes foi realizada biópsia hepática no final do experimento. Três animais do grupo GS adoeceram e dois morreram. Um ovino do grupo GSB adoeceu e morreu. Não houve alterações clínicas nos ovinos controles. Os principais sinais clínicos observados nos animais que adoeceram foram apatia, emagrecimento, fotofobia, hiperemia e secreção ocular e icterícia. Nenhum animal apresentou lesões cutâneas de fotossensibilização. O grupo que permaneceu no sol apresentou atividades séricas médias de AST e GGT significativamente maiores que a dos demais grupos (p<0,05) e os animais que permaneceram na sombra apresentaram níveis maiores de GGT (p<0,05) em comparação ao grupo controle. A histopatologia das amostras de fígados dos ovinos com sinais clínicos demonstrou tumefação e vacuolização de hepatócitos, necrose individual de hepatócitos, macrófagos espumosos com cristais birrefringentes intracitoplasmáticos e dentro de ductos biliares e infiltrado mononuclear periportal. Amostras do capim fornecidas aos cordeiros evidenciaram níveis médios de 0,94±0,80% da saponina protodioscina. As observações do presente experimento sugerem que ...

Twenty-six five-month-old lambs originated from flocks with no previous contact with Brachiaria spp. pastures were divided into three groups. Two groups (GS and GSB) were fed daily with fresh harvested Brachiaria decumbens ad libitum. GS was kept in an area with solar exposure and GSB was kept in stalls sheltered from solar exposure. Control group (GC) was also kept under solar exposure, but fed with Cynodon dactylon grass hay and Pennisetum purpureum fresh grass. All sheep from the three groups were supplemented with 200g daily of a commercial concentrated food. Evaluation of clinical signs was carried out daily and blood samples were collected twice a week to determine AST and GGT serum activities. Three out of nine lambs of GS presented clinical signs of Brachiaria spp. poisoning, and two died. One animal showed clinical signs and died in GSB. The main clinical signs observed were apathy, weight loss, photophobia, conjunctivitis, ocular mucous discharge and jaundice. Dermatitis due to photosensitization was not observed. Mean serum AST and GGT activities were significantly higher (p<0,05) in the group exposed to sun, than in the other two groups, and the GGT activities were significantly higher in the group sheltered than in the control group (p<0,05). All animals at the end of the experiment were submitted to liver biopsy and died lambs were necropsied. Histopathological evaluation of liver samples from sheep with clinical signs evidenced swelling and vacuolization of hepatocytes, individual hepatocytes necrosis, presence of foamy macrophages, crystal negative images within bile ducts and foamy macrophages, biliary duct hyperplasia and periportal mononuclear infiltration. These results suggest that sun exposure does not define intoxication, but exacerbates the toxicity of the grass.

Fotossensibilidade amplificada? Relato de porfiria cutânea tarda associada a lúpus eritematoso sistêmico / Increased photosensitivity? Case report of porphyria cutanea tarda associated with systemic lupus erythematosus

A associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade. Um achado que pode diferenciar as duas doenças são as lesões cutâneas bolhosas, raras no LES, mas características da PCT. Descrevemos um caso de associação de PCT e LES e revisamos a literatura, enfatizando questões fisiopatológicas, clínicas e terapêuticas. Um dado relevante para a prática clínica concerne ao tratamento do lúpus com antimaláricos, o que pode oferecer riscos para a PCT.

The association of porphyria cutanea tarda (PCT) and systemic lupus erythematosus (SLE) is rare. Systemic lupus erythematosus, of complex pathophysiology and pleomorphic clinical manifestations, is similar to PCT regarding photosensitivity. One finding that can differentiate both diseases is the presence of cutaneous blisters, which are rare in SLE, but characteristic of PCT. We report one case of the association of PCT and SLE and revise the literature, emphasizing pathophysiological, clinical and therapeutic aspects. One relevant information for clinical practice relates to the treatment of SLE with antimalarials, which is a risk for PCT.

Fotossensibilização primária em eqüídeos e ruminantes no semi-árido causada por Froelichia humboldtiana (Amaranthaceae) / Primary photosensitization in equidae and ruminants in the Brazilian semi-arid caused by Froelichia humboldtiana (Amaranthaceae)

Fotossensibilização é freqüente em eqüinos no semi-árido da região Nordeste, mas jumentos, mulas, ovinos e bovinos são, também, afetados. A dermatite afeta, principalmente, áreas de pele despigmentadas e os animais se recuperam após serem retirados das pastagens. Para comprovar a etiologia da enfermidade Froelichia humboldtiana (Roem. et Schult.) Seub., coletada no campo foi administrada no mesmo dia da colheita ou após ser mantida em refrigerador por 1-4 dias, por períodos de 30 ou mais dias, ad libitum como único alimento, a 2 jumentos e um ovino branco e, como único alimento volumoso, a um eqüino branco. Esses animais não manifestaram sinais clínicos e as atividades séricas de gama-glutamiltransferase (GGT), aspartato-aminotransferase (AST) e alanino-aminotransferase (ALT) ficaram dentro dos valores normais. Em outro experimento, um ovino foi colocado a pastar diariamente, durante o dia, preso por uma corda em uma área que tinha exclusivamente F. humboldtiana, por um período de 26 dias. Lesões características de fotossensibilização foram observadas 4-5 dias após o início do experimento. Após cessar o consumo da planta, no 26º dia, o ovino recuperou-se totalmente em 30 dias. Em outro experimento, 4 ovinos foram também colocados, presos por cordas, na mesma área. Outros 4 permaneceram como controles em uma pastagem vizinha, mas sem F. humboldtiana. Lesões de pele, características de fotossensibilização foram observadas após 11-25 dias de consumo de F. humboldtiana. As atividades séricas de AST e GGT, e os níveis de bilirrubina sérica permaneceram dentro dos valores normais. No final do período de permanência em pastagens de F. humboldtiana, 2 ovinos foram abatidos e 2 foram retirados da pastagem. Os que foram abatidos não apresentaram lesões macroscópicas nem histológicas do fígado; os outros dois se recuperaram das lesões da pele 17 e 20 dias após o fim do pastejo. Uma égua e seu potro foram colocados na mesma pastagem com F. humboldtiana...

Photosensitization is common in the Brazilian semiarid, affecting mainly horses, but also donkeys, mules, sheep and cattle. The dermatitis affects mainly non pigmented skin, and the animals recover after being withdrawn from the pastures. To demonstrate the etiology of the disease, Froelichia humboldtiana (Roem. et Schult.) Seub., collected in the field one or two times a week and kept in the refrigerator for 1-4 days, was administered for 30 or more days as the only food ad libitum to 2 donkeys and one white sheep, and as the only forage ad libitum, to one white horse. No clinical signs were observed in those animals, and serum activities of aspartate-aminotransferase (AST), alanine-aminotransferase (AST), and gamma-glutamyltransferase (GGT) were within normal ranges. In another experiment, one sheep was tied by a rope, during the day, in a pasture of exclusively F. humboldtiana for a 26 days period. Skin lesions characteristic of photosensitization appeared 4-5 days after the start of the experiment and became severe until day 26. After the withdrawal of the animal from the pasture on day 26 it fully recovered within 30 days. In another experiment, 4 sheep were tied by ropes in the same pasture, during the day, for a 29 days period. Another 4 control sheep were maintained in a neighboring pasture without F. humboldtiana. Skin lesions characteristic of photosensitization were observed after 11-25 days of F. humboldtiana grazing. Serum activities of AST and GGT, and serum levels of bilirubin were within normal ranges. At the end of the 29 days grazing F. humboldtiana, 2 sheep were euthanized, and 2 were withdrawn from the pastures. No gross or histologic liver lesions were observed on the 2 sheep euthanized; the other 2 sheep recovered within 17 and 20 days after the end of grazing. One mare and its foal grazed in the same pasture during 44 days. The mare that had a pigmented skin had no dermatitis, but the foal showed dermatitis on the...

Chronic actinic dermatitis--a study of clinical features.

BACKGROUND: Chronic actinic dermatitis (CAD), one of the immune mediated photo-dermatoses, comprises a spectrum of conditions including persistent light reactivity, photosensitive eczema and actinic reticuloid. Diagnostic criteria were laid down about 20 years back, but clinical features are the mainstay in diagnosis. In addition to extreme sensitivity to UVB, UVA and/or visible light, about three quarters of patients exhibit contact sensitivity to several allergens, which may contribute to the etiopathogenesis of CAD. This study was undertaken to examine the clinical features of CAD in India and to evaluate the relevance of patch testing and photo-aggravation testing in the diagnosis of CAD. METHODS: The clinical data of nine patients with CAD were analyzed. Histopathology, patch testing and photo-aggravation testing were also performed. RESULTS: All the patients were males. The average age of onset was 57 years. The first episode was usually noticed in the beginning of summer. Later the disease gradually tended to be perennial, without any seasonal variations. The areas affected were mainly the photo-exposed areas in all patients, and the back in three patients. Erythroderma was the presenting feature in two patients. The palms and soles were involved in five patients. Patch testing was positive in seven of nine patients. CONCLUSIONS: The diagnosis of CAD mainly depended upon the history and clinical features. The incidence of erythroderma and palmoplantar eczema was high in our series. Occupation seems to play a role in the etiopathogenesis of CAD.

Porphyria Cutanea Tarda Presenting as Jaundice / 대한간학회지

Porphyria cutanea tarda (PCT) is a disease characterized by an early appearance of severe photosensitivity with an increase in urinary uroporphyrin excretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocyte. This disease has been known to be caused by a dramatic decrease in the activity of the uroporphyrinogen decarboxylase. Multiple infectious and environmental factors may contribute to PCT by influencing oxidative stress in the hepatocytes. We report here on a case of porphyria cutanea tarda that presented with jaundice and photosensitivity.

Prevalence of photosensitivity--an Indian experience.

One thousand nine hundred and forty newly recruited entrants for training as pilots (Group A) underwent photic stimulation during EEG recording during the entrance examination to the flying stream. One hundred and sixty individuals (Group B) working on radars for prolonged periods were interviewed for eliciting complaints referable to photosensitivity and were subjected to EEG. EEGs in respect to 1000 cases (Group C) of known epilepsy were examined for the incidence of a photosensitive response. The study has revealed that 14 cases (0.72%) in group A had an abnormal response to photic stimulation out of which one case developed seizure during EEG recording. One case (0.62%) in group B and 30 cases (3%) in group C were detected to have photosensitivity. The maximum response was seen at 20 Hz stimulation. The prevalence of photosensitivity and its manifestations in these groups indicates that this condition is not uncommon.

Actinoreticulosis y conjuntivitis exuberante pigmentada: informe de un caso / Actinoreticulosis and pigmented exuberant conjunctivitis: report of a case

Se reporta un paciente afectado simultaneamente de actinoreticulosis (AR) y conjuntivitis exuberante pigmentada (CEP), afecciones que de modo aislado son de observación relativamente frecuentes en las zonas más altas del territorio boliviano. Esta asociación patológica apoyaría el origen actínico de la CEP, en tanto que para la AR tal orígen no ofrece duda. Se describen las características más importantes de ambas afecciones, estableciendose la diferención de la CEP con la denominada conjuntivitis primaveral. A la luz de esta asociación y de casos semejantes de CEP en el curso de otras fotodermatosis, creemos apropiado considerar esta lesión ocular, al menos por el momento, como la única alteración extracutánea y un signo más en el especto clínico de las fotodermatosis "de altura"