Ana Elisa Kiszewski

Úlcera de Buruli

A ulcera de Buruli, uma doenca infecciosa causada pela Mycobacterium ulcerans (M. ulcerans),e a terceira micobacteriose em ocorrencia, apos a hanseniase e a tuberculose. Essa micobacteriose atipica tem sido relatada em mais de 30 paises, principalmente, nos que tem climas tropicais e subtropicais, mas a sua epidemiologia permanece obscura. Recentemente, os primeiros casos autoctones do Brasil foram relatados, fazendo com que dermatologistas brasileiros estejam atentos a esse diagnostico. O quadro clinico varia: nodulos, areas de edema, placas, mas a manifestacao mais tipica e uma grande ulcera, que ocorre, em geral, nas pernas ou nos bracos. Apesar do amplo conhecimento quanto ao seu quadro clinico em paises endemicos, nas outras areas, esse diagnostico pode passar despercebido. Assim, medicos devem ser orientados quanto a ulcera de Buruli, pois o diagnostico precoce, o tratamento especifico e a introducao de cuidados na prevencao de incapacidades sao essenciais para uma boa evolucao.

Expanding the Phenotypic Spectrum of Olmsted Syndrome

are of Slavic origin, suggesting an ancestral mutation propagated through Slavic migration to Northern Romania and Eastern Germany, where our patients are living. Nevertheless, the mutation affects a CpG dinucleotide, which has a high mutation rate from 5methylated CG to TG and its complementary pair CA, suggesting that it could also be recurrent. Altogether, we show that KS patients may harbor FERMT1 deep-intronic mutations, which are missed in targeted and whole-exome sequencing, and require RNA analysis or whole-genome sequencing. Our results argue against a genetic heterogeneity of KS.

Is there an increased prevalence of Wilms' tumor in incontinentia pigmenti syndrome?

incontinentia pigmenti syndrome? We report the case of 5-month-old girl with incontinentia pigmenti (IP), showing the typical lesions during the first month of life (Fig. 1a). At the age of one month, abdominal distension was observed by her mother. Physical exam revealed hepatomegaly and linear hyperchromic pigmentation, following Blaschko lines on both arms, both legs, and abdomen (Fig. 1b). There were no other abnormalities. The infant’s abdominal ultrasonography revealed an enlarged and heterogeneous liver, occupying almost all of the upper abdominal cavity, and a septated kidney cyst. Computed tomography (CT) scans of the abdomen revealed voluminous hepatomegaly, with hypodense nodular images, randomly distributed in the hepatic parenchyma, the largest being 3.0 9 3.5 cm, and another complex lesion, located in the middle third of the left kidney, measuring 8.1 9 7.5 cm, compatible with a primary neoplastic lesion. Histological and immunohistochemical findings of a hepatic nodule biopsy evidenced a metastatic Wilms’ tumor (Fig. 2). During hospitalization, the patient acquired a respiratory syncytial virus and died on the 10th day due to respiratory failure. We had planned a course of antineoplastic therapy to reduce the size of the tumor and then have it surgically removed. Two literature reviews revealed six cases of cancer in patients with IP; two of them were Wilms tumors (one of these also developed paratesticular rhabdomyosarcoma and acute myelomonocytic leukemia); two others were retinoblastomas, one was a rhabdoid kidney tumor, and one case was an acute myelocytic leukemia. Later, two cases of squamous skin cell carcinoma were reported in 16and 25-year-old patients with IP. Ours is the third case of a Wilms tumor and the ninth case of cancer reported. As a PUBMED search reveals approximately 2000 published cases of IP, the frequency of Wilms tumors in patients with IP could therefore be estimated as 1.5/1000 cases. On the other hand, the frequency in the general pediatric population has been reported as substantially lower, 0.008/1000 cases. Different mutations in the NEMO gene are associated with IP. This gene is required for the activation of NF-jB, which is fundamental or the core issue to immune response, inflammation, cell growth, tissue differentiation, and apoptotic pathways. NF-jB is aberrantly activated in tumor cells. The mechanism of this activation is not clear. With the epidemiological data available at present, we believe the prevalence of Wilms tumor, in patients with IP, has increased. Longitudinal studies on IP should focus on the occurrence of malignancies and will be useful to confirm these findings. For this reason, we think that abdominal ultrasonographies, in the first and second year of life, might be warranted.

Dermatophytosis caused by Microsporum gypseum in infants: report of four cases and review of the literature

Dermatophytosis caused by Microsporum gypseum is rare, especially in infants, with few published cases. Diagnosis in this age group is frequently delayed. We review the literature and report 4 new cases of tinea of glabrous skin caused by M. gypseum mimicking eczema in infants. Considering new and previously reported cases, half of patients were exposed to sand, emphasizing the importance of this transmission vehicle in this age group. In conclusion, although rare, dermatophytosis by M. gypseum should be part of the differential diagnosis of inflammatory dermatosis in infants. A clinical suspicion and the availability of culture are keys to the diagnosis.

Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti

PURPOSE The aim of this study was to evaluate the skeletal characteristics of patients with the rare genetic disease of Incontinentia Pigmenti, by lateral cephalometric analysis on the antero-posterior plane and by frontal cephalometric analysis on the horizontal plane. METHODS Lateral skeletal cephalometric analyses were performed according to Steiner for evaluation of antero-posterior direction, and frontal skeletal cephalometric analyses according to Ricketts for evaluation of horizontal direction in 9 patients with IP. Left and right facial widths at the level of the zygomatic arch were also evaluated. The Student t-test was used for paired to a 5% level of significance data. RESULTS The lateral skeletal cephalometric findings were not statistically significant, but the Class II was the most frequent finding (44.4%), followed by Class III (33.3%) and Class I (22.2%). The right maxillo-mandibular width was significantly lower than normal values, and the right facial width was significantly higher than the left, at the level of the zygomatic arch. CONCLUSIONS Patients with IP showed more skeletal discrepancies of Class II and III than Class I malocclusion, and had significant horizontal facial skeletal asymmetries. This should alert health professionals to route these patients for orthodontic assessment and possible therapeutic interventions. However, larger samples are needed to better elucidate if these cephalometric findings can be specifically related to IP.

Bromoderma in an infant

Bromoderma is a cutaneous eruption caused by the absorption of bromide. Clinical manifestations include acneiform and vegetative lesions. We report the case of an infant with bromoderma caused by the use of syrup for abdominal colic containing calcium bromide. The lesions regressed after discontinuation of the drug.

Mesalazine in the treatment of extensive alopecia areata: A new therapeutic option?

Background: Alopecia areata (AA) is a T-lymphocyte-mediated disease that results in alopecia plaques or diffuses alopecia on the scalp and body. Etiologic factors include genetic and autoimmune susceptibility. Treatment modalities are usually considered according to the extent of hair loss and the patients age. Since there is no approved treatment by the US Food and Drug Administration, treatment options and combinations available are off-label. Patients with extensive AA (including totalis and universalis) have a low rate of spontaneous remission and poor treatment response. Extensive AA is usually associated with severe emotional distress, social discomfort, bullying, and other psychological problems for the child and family. In this context, the need for new therapeutic schemes is clear. Materials and Methods: We retrospectively analyzed five patients (aged 2–17 years) with extensive and refractory AA who were treated with mesalazine associated or not with oral prednisolone and topical betamethasone/minoxidil. Results: We observed complete growth of terminal hair in all patients. No patient had abnormal laboratory results or manifested drug side effects. Conclusions: In extensive and refractory AA cases, the topical treatment combined with mesalazine may provide excellent results, reducing the need for extended oral corticosteroids courses. Besides that, mesalazine seems to minimize relapses on discontinuation of oral steroids. Controlled studies are needed to confirm the effectiveness of this combination.

Intrafamilial clinical variability in four families with incontinentia pigmenti: Intrafamilial clinical variability in four families with incontinentia pigmenti

Incontinentia Pigmenti (IP) is an X‐linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF‐κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial cases, were included in the study. The patients were subjected to clinical examination and collection of family histories for assessment of intrafamilial clinical variability. All familial cases carried the IKBKGdel recurrent deletion. A noticeable intrafamilial clinical variability was observed in all studied families, with mild and severe cases co‐occurring within a same family. Additionally, to best of our knowledge, our study was the first to address the variability of dental defects within IP families, and here too, our results reveal remarkable differences among affected relatives. A number of as yet unidentified genes might act as modifiers, influencing disease expressivity. Our study found important clinical variability within four IP families and contributes to the understanding of the genetic background involved in IP expressivity.

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar

Purpose: To identify possible speech-language disorders in children with Incontinentia Pigmenti (IP), seeking to characterize the role of speech therapy in the evaluation and management of this genetic condition. Methods: The sample was composed of seven female children diagnosed with IP. Results: The patients in the sample had a mean age of 6.4 years. Among the main structural features verified in the patients, highlighted the presence of no physiological diastema and hard palate abnormalities, found both in 85.7 % of the sample, in addition to tooth agenesis in 71.4% of cases. As for functional findings, 71.4 % of the sample had abnormal tongue mobility and 57.1%, inappropriate chewing. As for changes in speech, the main findings consisted of phonetic/phonological alterations, verified in 85.7 % of the sample, being the most common phonetic alteration characterized by distortion of alveolar fricative [s], present in 57.1 % of cases. None of the children had abnormal voice and swallowing according to the used protocol. Furthermore, no detectable hearing abnormality was observed according to claim of the family or by observation during the evaluation. Conclusion: In this sample the most frequent speech-language alterations verified among the patients with IP were mainly related to the stomatognathic system structures and speech.