SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.

Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated. Alleles were discriminated using the ABI StepOnePlus Real-Time PCR System using TaqMan Assays. The results were compared with 107 healthy individuals matched for genetic ancestry, gender, and age. European ancestry was prevalent among PCT patients (68.3%). The frequency of the TT genotype of rs13015236 in the SLC40A1 gene was higher in PCT patients (44.8%) than in controls (20.6%) (P < 0.02). The C allele was more frequent among healthy individuals (53.3%) compared with patients (34.5%) (P < 0.01). The rs17838832 G allele of the CP gene was more common among PCT patients (14.3%) compared with controls (4.9%) (P < 0.05). There was no statistically significant difference concerning the three remaining polymorphisms. Our data highlight a possible role for the rs17838832 single nucleotide polymorphisms in CP in causing PCT (higher frequency of the G variant in patients). Regarding the rs13015236 single nucleotide polymorphisms in SLC40A1, the presence of a C allele could protect against PCT.

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus.

Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)

Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Case for diagnosis.

Vascular leiomyoma are uncommon benign smooth muscle tumors which generally present as a single painful nodule in the lower limbs. We report a case of vascular leiomyoma on the second finger of the left hand, an unusual location for this tumor.

Case for diagnosis.

Hidradenitis suppurativa is a chronic inflammation of the apocrine glands. It usually starts at or soon after puberty, and women are more often affected than men. The most affected sites are the axillae; however, other regions rich in apocrine glands may also be affected. Involvement restricted to the inframammary fold alone is rare and to the best of our knowledge there have been no reports of any similar cases. The etiology of this condition has yet to be fully clarified.

Majocchi's granuloma.

We report the case of a man of 45 with superficial dermatophytosis longtime inadvertently treated with antibiotics and corticosteroids with subsequent progression to the deep form, known as granuloma Majocchi. Treatment with orally terbinafine was successful.

Case for diagnosis. Erythromelanosis follicularis faciei et colli.

Erythromelanosis follicularis faciei et colli is a rare disease of unknown etiology characterized by symmetric erythematous brownish hyperpigmentation on the frontal, malar and temporal areas associated with involvement of the pilary follicle. It is common to present pilar keratosis on the shoulders and neck. The three main clinical characteristics are: erythema (with or without telangiectasias), discrete follicular papules and brownish hyperpigmentation.

Estudo comparativo de hemifaces entre 2 peelings de fenol (fórmulas de BakerGordon e de Hetter), para a correção de rítides faciais / A splitface comparative study between two phenolbased peelings (BakerGordon and Hetter formulas) in the treatment of facial rhytids

Introdução: O envelhecimento é um conjunto de alterações fisiológicas inevitáveis e irreversíveis. No intuito de retardar e até de reverter esse processo, várias técnicas têm sido utilizadas. Objetivo: Comparar eficácia e efeitos colaterais locais de duas fórmulas que utilizam o fenol: Baker-Gordon e Hetter. Métodos: Sete pacientes foram incluídas neste estudo comparativo onde, na hemiface direita utilizou-se a fórmula de Baker Gordon e na esquerda, a de Hetter. As avaliações da intensidade da dor durante a aplicação e dos sinais clínicos do desconforto nos dias subsequentes foram feitas através de escala subjetiva de três níveis para cada lado da face. A avaliação dos resultados clínicos após 6 meses, foi feita pelas pacientes e pelo médico aplicador. Resultados: A intensidade da dor durante a aplicação foi equivalente em ambas as fórmulas. Com a fórmula de Hetter, a integridade da pele foi mais rapidamente restabelecida e os efeitos indesejados foram de menor intensidade. Quanto aos resultados clínicos finais, 2 pacientes preferiram a fórmula de Baker-Gordon, 1 a de Hetter enquanto para 4 o resultado foi indiferente. O médico avaliador julgou que 5 pacientes tiveram resultados semelhantes em ambas as hemi-faces, enquanto 2 apresentaram melhor avaliação com cada uma das fórmulas respectivamente. Conclusão: As formulações se equivalem no tratamento de rítides faciais.

Introduction: Aging is considered to be a set of inevitable and irreversible physiological changes. Several techniques have been used with the aim of slowing down and even reversing this process. Objective: To compare the efficacy and local side effects of two phenol-based formulas: the Baker-Gordon formula and the Hetter formula. Methods: Seven pacients were included in a split-face comparative study. The Baker-Gondon and the Hetter formulas were applied on the right and left facial sides respectively. The pain felt during the procedure and intensity of clinical changes in the period following the peeling were measured through a 3 degrees subjetive scale, for each side of the face. The clinic results after 6 months were evaluated by patients and the doctor Who performed the procedures. Results: The pain intensity during the procedure was equivalent for both formulas. With the Hetter's formula the skin's integrity was restored more quickly and the undesirable effects were of lower intensity. Regarding the final clinical results two patients preferred the Baker-Gordon formula, one gave preference to the Hetter's formula and for 4 patients the results were unconcerned. In the medical evaluation, 5 patients had similar results on both facial sides , while 2 presented better clinical results with each formula, respectively. Conclusion: The Gordon-Baker and the Hetter formulas are equivalent for the treatment of facial rhytids.

Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus / Análise de mutações nos genes PIK3CA e FGFR3 em caso de nevo epidérmico verrucoso

Os nevos epidérmicos verrucosos são hamartomas congênitos compostos por queratinócitos, que podem ocorrer isolados ou associados a alterações do desenvolvimento. Com a recente observação de uma relação estreita entre variações nos genes PIK3CA e FGFR3 e o aparecimento do nevo, realizamos ensaios moleculares para identificação das mutações E542K, E545G/K e H1047R do gene PIK3CA, e R248C do gene FGFR3. Interessantemente, durante o processo de amplificação não observamos o produto da PCR do exon 9 do gene PIK3CA, região que compreende aos aminoácidos 542-545, sugerindo fortemente a ocorrência de uma microdeleção da região e indicando uma provável variante alélica ainda não descrita na literatura.

Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus / Analise de mutacoes nos genes PIK3CA e FGFR3 em caso de nevo epidermico verrucoso

Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.

Os nevos epidérmicos verrucosos são hamartomas congênitos compostos por queratinócitos, que podem ocorrer isolados ou associados a alterações do desenvolvimento. Com a recente observação de uma relação estreita entre variações nos genes PIK3CA e FGFR3 e o aparecimento do nevo, realizamos ensaios moleculares para identificação das mutações E542K, E545G/K e H1047R do gene PIK3CA, e R248C do gene FGFR3. Interessantemente, durante o processo de amplificação não observamos o produto da PCR do exon 9 do gene PIK3CA, região que compreende aos aminoácidos 542-545, sugerindo fortemente a ocorrência de uma microdeleção da região e indicando uma provável variante alélica ainda não descrita na literatura.

Complicação de preenchimento cutâneo após tratamento de hepatite C com interferon e ribavirina / Dermal filling complication after hepatitis C treatment with interferon and ribavirin

Relata-se o caso de paciente portadora de hepatite C, com surgimento de granuloma por corpo estranho nos sulcos nasolabiais e glabela, cinco anos após submeter-se a aplicação de preenchedor cutâneo permanente. A paciente fez uso de interferon e ribavirina para tratar hepatite C durante seis meses, com o surgimento dos granulomas 30 dias após o fim do tratamento. Realizada então terapia com corticoide oral, havendo melhora gradativa do quadro cutâneo.

This article describes the case of a female hepatitis C patient who presented with a foreign body granuloma in the nasolabial folds and glabella five years after receiving an application of permanent dermal filler. The patient used interferon and ribavirin for treating hepatitis C for six months, and the granulomas appeared 30 days after the end of the treatment. Treatment with oral steroids was carried out, with a gradual improvement in the appearance of the skin.

Case for diagnosis / Caso para diagnóstico

Vascular leiomyoma are uncommon benign smooth muscle tumors which generally present as a single painful nodule in the lower limbs. We report a case of vascular leiomyoma on the second finger of the left hand, an unusual location for this tumor.

Angioleiomiomas são tumores benignos raros derivados da musculatura lisa vascular, que geralmente se apresentam como nódulo doloroso solitário nos membros inferiores. Relata-se um caso de angioleiomioma no segundo quirodátilo esquerdo, localização incomum deste tumor.

Caso para diagnóstico / Case for diagnosis

A hidradenite é uma inflamação crônica e supurativa das glândulas apócrinas. Ocorre mais frequentemente, nas mulheres, iniciando durante ou após a puberdade. Os locais mais acometidos são as axilas, porém, outras regiões ricas em glândulas apócrinas, podem ser comprometidas. A localização intermamária, de forma exclusiva, é rara e não encontramos relatos de outros casos semelhantes. Sua etiologia ainda não foi completamente elucidada.

Hidradenitis suppurativa is a chronic inflammation of the apocrine glands. It usually starts at or soon after puberty, and women are more often affected than men. The most affected sites are the axillae; however, other regions rich in apocrine glands may also be affected. Involvement restricted to the inframammary fold alone is rare and to the best of our knowledge there have been no reports of any similar cases. The etiology of this condition has yet to be fully clarified.

Tinea granulomatosa de Majocchi / Majocchi's granuloma

Relata-se o caso de um homem de 45 anos com dermatofitose superficial de longa data, tratado, inadvertidamente, com corticoide e antibiótico, com progressão subsequente para a forma profunda, conhecida como granuloma de Majocchi. O tratamento com terbinafina VO foi curativo.

We report the case of a man of 45 with superficial dermatophytosis longtime inadvertently treated with antibiotics and corticosteroids with subsequent progression to the deep form, known as granuloma Majocchi. Treatment with orally terbinafine was successful.

Caso para diagnóstico / Case for diagnosis

Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso. É comum apresentar ceratose pilar no pescoço e nos ombros. Sua característica clínica primária é composta pela tríade: eritema (com ou sem telangiectasias), pápulas foliculares discretas e hiperpigmentação acastanhada.

Erythromelanosis follicularis faciei et colli is a rare disease of unknown etiology characterized by symmetric erythematous brownish hyperpigmentation on the frontal, malar and temporal areas associated with involvement of the pilary follicle. It is common to present pilar keratosis on the shoulders and neck. The three main clinical characteristics are: erythema (with or without telangiectasias), discrete follicular papules and brownish hyperpigmentation.

Epidermolise bolhosa: recentes avanços / Epidermolysis bolhosa

As epidermólises bolhosas (Köebner, 1886) säo um grupo de doenças hereditárias que apresentam como quadro dermatológico comum a formaçäo de bolhas decorrentes de pequenos traumas. Este termo, entretanto, vem sendo abandonado por alguns autores que passaram a adotar o de doenças mecanobolhosas, introduzido por Pearson, em 1971. Ele advoga a troca do termo baseando-se no fato que epidermólise seria aplicado somente nos casos que houvesse citólise epidérmica, o que só ocorre em um pequeno grupo destas doenças. Uma forma adquirida da doença, com características imunológicas próprias, sugerem tratar-se de uma doença distinta, com etiologia diferente dos tipos hereditários, que portanto näo será incluída nesta revisäo

Urticária vasculite: relato de um caso / Urticarial vasculitis: report of a case

O trabalho descreve um caso de urticária/vasculite ocorrido em paciente com 37 anos, do sexo feminino, com manifestaçäo cutânea de urticária onde o estudo histológico e imunopatológico demonstrou uma vasculite leucocitoclásica. O controle terapêutico foi dificil só se atingindo remissäo da patologia após a utilizaçäo da dapsona

Manifestaçöes cutâneas em receptores de transplante renal / Skin diseases in patients who were submited to kidney transplant

Os autores fazem um estudo da incidência de dermatoses em 26 pacientes submetidos a transplante renal e imunossupressäo, acompanhados durante dois a 12 meses. Observou-se aumento de suscetibilidade as infecçöes, com predominância de micosese superficiais, ao mesmo em que as alteraçöes cushingóides constituíram a maioria das anormalidades verificadas