Urticaria pigmentosa in a 9‐month‐old male: case report

@#Urticaria pigmentosa (UP) is the most common form of cutaneous mastocytosis in children. It can be diagnosed clinically, based on the appearance of numerous brownish macules and papules that are symmetrically distributed, mostly on the trunk and the extremities. Skin biopsy is helpful in establishing the diagnosis. Treatment options generally include antihistamines and/or topical corticosteroids. In most cases, pediatric UP tends to disappear spontaneously before puberty. We present the case of a 9-month-old male with a history of multiple brownish patches and plaques, which started when he was four months old. He was diagnosed with UP based on clinical and histopathologic findings, and was prescribed oral antihistamines and emollients for symptomatic treatment.

Idiopathic follicular mucinosis in a 32-year old Filipino man successfully treated with narrow-band UVB: A case report

INTRODUCTION@#Follicular mucinosis is a rare skin condition, which can present as an idiopathic benign condition or as a secondary symptom of a malignant disorder, most commonly mycosis fungoides. Since its first description in 1957, only 90 cases have been reported worldwide. This condition is characterized by erythematous infiltrated plaques with scaling, sometimes with follicular prominence on the head and neck. Definitive diagnosis is made histologically.@*CASE@#A 32-year old male presented with a 3- year history of recurrent scaling with eruption of pruritic erythematous papules and plaques over the face, neck and chest. Different local treatments (topical corticosteroids, antifungal cream and moisturizers) were ineffective. Overall, he was healthy. Histopathological examination of the lesion showed typical histological picture of follicular mucinosis. Alcian blue stain was positive. The patient was successfully treated with narrowband UVB (NB-UVB) therapy with no recurrence of lesions after one- month follow-up.@*CONCLUSION@#Idiopathic follicular mucinosis is a benign condition with localized involvement and excellent prognosis. However, long-term follow-up and monitoring is recommended because of its association with malignancy. Follicular mucinosis is a rare dermatosis, characterized histologically by the presence of mucin deposits within the hair follicle and sebaceous glands.1 There are three clinical types determined. The first and the most common type occurs as an idiopathic benign disorder, typically seen in young patients. The second type affects people 40-70 years of age and has a more chronic course. The third type usually occurs in the elderly and presents with widespread lesions. It can arise as a secondary symptom of a malignant disorder, most commonly mycosis fungoides.

Impact of Age and Life-expectancy on Treatment Receipt in High-risk Prostate Cancer

Background/Objectives:The incidence of Prostate cancer is increasing with age and active treatment of high-risk prostate cancer improves survival. However, it is uncertain how the age as contrasted with lifeexpectancy impact treatment decision-making for men with clinically significant prostate cancer. The aim of this study was to determine whether age or life expectancy affected the treatment receipt Participants:541 men with high-risk localized prostate cancer (Gleason ≥ 8 or PSA > 20) diagnosed between 2007 and 2013 were recruited to the study.Measurements:Outcome variables included treatment underuse and type of definitive therapies such as radical prostatectomy, radiotherapy, androgen deprivation therapy and cryotherapy. Life expectancy was assessed according to Schonberg Prognostic Index.Results:Among the 541 high-risk prostate cancer patients, older men (≥65 years) received definitive therapy at similar rates as younger men (97% vs 98%; p=0.2), while younger men were more likely to accept surgery compared with older men (95% vs. 72%, p<0.001). Age affected treatment choice depending on the patient's life expectancy. Among men with higher life expectancy, age did not affect surgery receipt (OR=0.62; 95%CI: 0.18-2.20). But among men with lower life expectancy, older age (OR=0.15; 95%CI: 0.06-0.38), black race (OR=0.27; 95%CI: 0.10-0.77), comorbidity (OR=0.31; 95%CI: 0.13-0.76) and non-commercial insurance (OR=0.12, 95%CI: 0.05-0.28) were associated with lower rate of surgical receipt.Conclusion:Although most high-risk prostate cancer patients undergo definitive therapy, both age and life expectancy affected the type of treatment. Clinical decisions appear to be based on patients’ medical condition and long-term outlook, rather than simply age. Non-clinical factors such as race and insurance play a role intreatment decision-making.

Bioenergetics of Human Cancer Cells and Normal Cells during Proliferation and Differentiation.

Cancer cells are known to have different metabolic properties than normal cells, particularly their tendency to undergo glycolysis even under aerobic favoring conditions. This has created interest in how mitochondrial function in tumor cells may differ from that in normal cells. Using human malignant cells (SW-620, PC-3, HT-1080, SK-MEL, HL-60, K-562 and MOLT-3), human fibroblast (CCL-153) and human T Cells, we investigated three key parameters that have been typically to describe mitochondrial function: cellular ATP production, mitochondrial potential and cellular cardiolipin levels. On average, tumor cancer cells had more ATP production and greater mitochondrial potentials. For example, ATP levels in malignant cells ranged from 20 to 69 μmole/106 cells, with a cancer cell average of 40±18 μmole/106 cells. For normal cells, the ATP level range went from 9 to 24 μmole/106 cells, for an average of 15±11 μmole/106 cells. Mitochondrial potentials tended to be three times higher in cancer cells, perhaps because overall mitochondrial mass (as measured by relative cardiolipin levels) were twice as high in cancer cells. Higher mitochondrial masses are consistent with proliferation. Proliferating cells in general showed higher mitochondrial function compared to quiescent cells (confluent monolayers), and HL-60 cells showed reductions in all three mitochondrial parameters measured here when the cells were exposed to the differentiating agent TPA. The effects of ATP production inhibitors CCCP and oligomycin on mitochondrial function in normal and cancer cells were also compared. In general, in these experiments, cancer cell mitochondrial inhibition with these agents produced a decrease ATP levels by 30-40% while in normal cells ATP production was reduced by 60%. These results provide evidence of a mitochondrial dysfunction in cancer cells. Cancer cells appear to better withstand interference with ATP synthesis in mitochondria since they rely mainly on glycolysis as an energy producing mechanism.

Nail cosmetics.

The nail as an anatomic structure protects the terminal phalanx of the digit from injury. Historically, it has served as a tool for protection and for survival. As civilizations developed, it attained the additional function of adornment. Nail beautification is a big industry today, with various nail cosmetics available, ranging from nail hardeners, polishes, extensions, artificial/sculpted nails, and nail decorations. Adverse events may occur either during the nail-grooming procedure or as a reaction to the individual components of the nail cosmetics. This holds true for both the client and the nail technician. Typically, any of the procedures involves several steps and a series of products. Separate "nail-bars" have been set up dedicated to serve women and men interested in nail beautification. This article attempts to comprehensively inform and educate the dermatologist on the services offered, the products used, and the possible/potential adverse effects related to nail-grooming and nail cosmetics.

Vulvar ulcer as a presentation of systemic langerhans cell histiocytosis.

We report a 38-year-old housewife with systemic Langerhans cell histiocytosis (LCH) presenting as a chronic vulvar and peri-anal ulcer. She had systemic involvement in the form of diabetes insipidus and bone "hot-spots". She responded favorably to etoposide, 6-mercaptopurine, and systemic steroids, and has been in remission since 10 years. Chronic vulvar ulcers not responding to routine therapy should not be neglected and need to be biopsied repeatedly to come to a specific diagnosis. The vulvar ulcer in our case provided a vital clue to a systemic LCH, with a successful outcome.

Displasias ectodérmicas do grupo A: elaboração de um banco de dados informatizado para auxílio ao diagnóstico genético-clínico / Ectodermal dysplasia of group A: Development of a computerized database to aid genetic diagnosis, clinical

As displasias ectodérmicas são afecções em que ocorre comprometimento das estruturas derivadas da ectoderme, constituindo um grupo nosológico grande e complexo. Freire-Maia, em 1971 e 1977, propôs uma definição clínica e uma classificação clínico-mnemônica das displasias ectodérmicas, dividindo-as em 2 grupos principais (A e B), de acordo com a presença de sinais clássicos em estruturas relacionadas a pêlos, dentes, unhas e glândulas sudoríparas. Objetivos: Este projeto teve como objetivos principais: 1) A análise da literatura sobre as displasias ectodérmicas já descritas com relação aos aspectos genéticos e clínicos. 2) A atualização da classificação fr Freire-Maia(1971, 1977), revista por Pinheiro e Freire-Maia (1994) com a realização das alterações necessárias no grupo A (união de afecções descritas anteriormente como distintas, mudanças de subgrupo, inclusão de novas afecções encontradas na literatura). 3) A criação de um sistema de controle informatizado (disponível em home page na internet), responsável pelo gerenciamenteo de um banco de dados contendo as informações obtidas, bem como um banco de imagens selecionadas, referentes às displasias ectodérmicas conhecidas e também um sistema de pesquisa, onde as informações fornecidas pelo usuário (de acordo com os sinais clínicos do paciente) são confrontadas com o banco de dados, resultando na filtragem das possíveis displasias ectodérmicas. Resultados: O banco de dados encontra-se disponível na internet no endereço http://displasiasbio.ufpr.br. cada afecção foi analisada individualmente, tendo sido elaborado para cada uma delas uma ficha com os seguintes dados: informações gerais, aspectos genéticos, sinais clínicos clássicos, outros sinais frequentes, comentários e referências bibliográficas utilizadas. Um banco de imagens e sistemas de pesquisa (por palavra-chave e por critérios clínicos) também foram disponibilizados...

Profilaxis de los accidentes por exposición profesional al VIH / Profilaxis of professional accidental exposure to the HIV

Se realizó el seguimiento durante un año de cuatro pacientes que accidentalmente se expusieron por via percutánea a sangre de pacientes infectados con VIH/SIDA con el objetivo de prevenir la infeccion por VIH. Los pacientes fueron evaluados clínicamente y a través de pruebas de laboratorio como la determinación de anticuerpos contra VIH. Los pacientes recibieron tratamiento antiretrovial según esquema establecido. Ninguno de los pacientes seroconvirtió.

Some syndromes with camptodactyly

Nosso trabalho pretende salientar a importância da camptodactilia na genética clínica. Estudamos pacientes portadores de camptodactilia e a utilizamos como sinal aglutinador de síndromes relacionadas. Neste trabalho relatamos 5 pacientes que tiveram diagnóstico sindrômico estabelecido, todos com camptodactilia

Humeroradial/multiple synostosis syndrome in a Brasilian child with consaguineous parents: a new multiple synostosis syndrome?

Os autores relatam sobre uma criança do sexo feminino, filha de casal consanguineo que apresenta plagio-braquicefalia, frontal proeminente, base nasal alargada, orelhas pequenas e um tipo incomum de sinostoses múltiplas das articulaçöes umero-radial, carpal, tarsal e interfalángicas, associadas com aplasia (aparente) das falanges distais dos dígitos pós-axiais (dedos e artelhos). Provavelmente se trata de uma nova síndrome autossômica recessiva, desde que näo há relatos de casos semelhantes na literatura pertinente

The A'-d ridge count in Ullrich-Turner syndrome: study in a large sample

Determinamos o valor da contagem de linhas A'-d numa constituída por 108 pacientes com síndrome de Ullrich-Turner (UTS), 28 mulheres com amenorréia primária e cariótipo normal e 111 controles femininos e 50 controles masculinos. O valor da contagem de linhas A'-d é significativamente maior nas pacientes com UTS que nos demais grupos, os quais por sua vez näo diferem entre si. Confirmamos, assim, a utilidade da contagem A'-d para o diagnóstico da UTS, apesar de a freqüência de classificaçöes errôneas no diagnóstico feito baseado apenas nessa contagem ser de 23%. Verificamos também que näo existem diferenças na contagem A'-d nas variantes citogenéticas de síndrome de UT bem como näo existe correlaçäo entre a contagem A'-d e afreqüência de células 45,X em casos de mosaicismo cromossômico 45,X/46,XX. Näo foi observado aumento na contagem A'-d em mulheres com amenorréia primária e cariótipo normal