A case-control study of HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome.

Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease that manifests by the triad of recurrent orofacial edema (frequently as cheilitis granulomatosa), relapsing facial paralysis and plicated tongue. The cause of MRS remains unknown, but genetic predisposal and a relationship with inflammatory bowel disease are suspected. The objective of this research was to compare the frequency of class I and II HLA alleles in patients with a confirmed diagnosis of MRS with those of a healthy control group. We conduct a case-control study and typed of HLA A, B, C, DR, and DQ using molecular techniques. The study included 36 patients with MRS and 297 patients in the control group. There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277]), HLA DRB1*13 (not statistically significant) and HLA DQB1*03 (p = 0,0177; OR: 1,829 [1,122-2,978]) and low levels of HLA A*01 (p = 0.0046; OR: 0,097 [0,009-0,538]), HLA DRB1*04 (p = 0.0274; OR: 0,228 [0,053-0,844]), HLA DRB1*07 (p = 0,0091; OR: 0,183 [0,043-0,670]) and HLA DQB1*02 (p = 0.0051; OR: 0,312 [0,143-0,721]) in MRS patients compared with the control group. Crohn disease (CD) patients had disparate genetic profiles versus those with MRS. This single-institution study had a small cohort, because this disease is rare. Conclusions: There is a genetic predisposition toward MRS, involving associated and protective genes.

Atrichia with Papular Lesions: Importance of Histology at an Early Disease Stage.

We report the case of a 5-year-old girl born from consanguineous parents, presenting with alopecia universalis since the age of 8 months, without papules or cysts over the scalp or body. The goal of this paper is to emphasize the relevance of histopathology for the early diagnosis of atrichia with papular lesions in children with alopecia universalis, in settings where genetic testing may not be available.

Lichen Planopilaris with Pustules: A Diagnostic Challenge.

INTRODUCTION: Lichen planopilaris (LPP) is a lymphocytic primary cicatricial alopecia presenting with scarring hair loss and variable degrees of perifollicular erythema and scaling. Pustules are infrequent and may mimic folliculitis decalvans (FD) and other forms of neutrophilic alopecia. We present a series of LPP cases with pustules and discuss the importance of differentiating them from primary neutrophilic folliculitis. MATERIALS AND METHODS: Demographic, clinical, histopathological, and follow-up data of 13 cases of LPP with pustules followed at the Department of Dermatology of the University of São Paulo Medical School were described. RESULTS: Seven females and 6 males were included. Onset of signs and symptoms ranged from 23 to 61 years of age. Previous diagnoses were FD in 3 patients, pityriasis amiantacea in 2 cases, and folliculitis keloidalis nuchae in 1 case. Other 7 cases presented typical clinical features of LPP. DISCUSSION: There is limited data concerning LPP with pustules. Our analysis shows that LPP should be considered a differential diagnosis in patients with refractory folliculitis. Cautious examination of the entire scalp with dermoscopy and/or reevaluation after a course of antibiotics can avoid misdiagnosis. Further studies are required to establish the etiology of pustules in the setting of LPP.

Syphilitic Alopecia: Case Reports and Trichoscopic Findings.

There has been a resurgence of syphilis in the last decade. Although alopecia is not a common manifestation of the disease, the "moth-eaten" pattern is considered patognomonic. However, diffuse hair loss, termed essential alopecia, sometimes can be the only sign of syphilis infection and mimic other conditions, such as alopecia areata and telogen effluvium. We describe three patients with syphilis in whom the pattern of alopecia was not typical. Although clinical, histopathological, and trichoscopic examinations may share some similar findings with other hair diseases, the inclusion of syphilis in the differential diagnosis of hair loss causes is fundamental to a correct screening and diagnosis.

Clinical and Histopathological Findings of Frontal Fibrosing Alopecia-Associated Lichen Planus Pigmentosus.

BACKGROUND: Frontal fibrosing alopecia (FFA) is a primary lymphocytic scarring alopecia occurring mainly in postmenopausal women. A range of facial lesions have been described in FFA, such as lichen planus (LP) pigmentosus, red dots, facial papules, and perifollicular and diffuse erythema. These lesions can be the first sign of FFA. LP pigmentosus is a rare variant of LP. The first description of LP pigmentosus associated with FFA (in 2012) reported 22 cases of LP pigmentosus among 44 cases of FFA affecting South African patients. METHODS: We reviewed 16 FFA patients with LP pigmentosus and the histopathological findings of the biopsy of LP pigmentosus in 9 patients. RESULTS: Most patients had intermediate skin phototypes (III-IV; n = 10; 62%). The age at onset of LP pigmentosus ranged from 30 to 60 years. The most common histopathological findings were epidermal atrophy, basal cell degeneration, interfollicular inflammatory infiltrate and melanophages, and perifollicular changes. Other findings not previously described in LP pigmentosus were inflammation and interface changes on sweat duct epithelia (acrosyringium and superior dermal duct), and lichenoid perisebaceitis. CONCLUSIONS: Histology of our cases confirmed previous findings and showed a high incidence of perifollicular involvement with occasional changes affecting sebaceous and sweat glands.

Extensive long-standing chromomycosis due to Fonsecaea pedrosoi: three cases with relevant improvement under voriconazole therapy.

OBJECTIVE: To evaluate voriconazole in the treatment of extensive cases of chromomycosis. Chromomycosis is a chronic infection, which is extremely difficult to eradicate, and is caused by dematiaceous (dark-colored) fungi which affect the skin and subcutaneous tissues, with Fonsecaea pedrosoi being the major etiologic agent. Drugs such as itraconazole, terbinafine, posaconazole and amphotericin B have been employed with variable results. METHODS: We treated three Caucasian male patients (ages 44, 57 and 77 years), two were farmers and one a trash collector, with long-standing (20, 10 and 21 years of disease, respectively) and extensive chromomycosis (one lower limb affected, at least) due to Fonsecaea pedrosoi. All patients had received previous therapy with the formerly indicated drugs itraconazole and terbinafine for several months either without or with incomplete response. After that, we started treatment with voriconazole per os 200 mg twice a day. RESULTS: The patients were treated with voriconazole for 12 months until there was clinical and mycological improvement. Clinical response was evident after 30-50 days. One patient developed visual abnormalities and tremors, and the voriconazole was reduced to 200 mg/day without impairment of the clinical and mycological response. The same patient presented photosensitive dermatitis after 12 months of therapy and the voriconazole was stopped. All patients showed elevations of serum gamma-glutamyl transpeptidase (GGT) during the treatment without clinical relevance. Moreover, our three patients obtained partial response with this therapy. CONCLUSIONS: This is the first report with a case series of chromomycosis treated with voriconazole. Despite its high cost, voriconazole is a safe and possibly promising drug for use on extensive chromomycosis refractory to conventional treatment.

Clinical, dermoscopic and histopathological evaluation of the Meyerson nevus: case report.

Meyerson nevi occur whenever a rare focal and transitory eczematous eruption arises around melanocytic lesions. The same phenomenon has also been observed in non-melanocytic lesions as well. Herein we report the case of a 25 year old, male patient, who had noticed, two months before, the arising of a pruriginous and erithematous halo around two nevi localized on his abdomen. The lesions were found to be atypical on dermoscopic examination and he was submitted to surgical excision of both nevi. Histopathological examination revealed displastic compound melanocytic nevi, surrounded by intraepidermical vesicles and spongiosis. Present report suggests that Meyerson phenomenon does not seem to alter dermoscopic features of nevi.

Chromoblastomycosis: study of 27 cases and review of medical literature.

BACKGROUND: Chromoblastomycosis is a subcutaneous mycosis that occurs mainly in rural workers although is being more commonly found among people working in other sectors. The fungus penetrates the skin after its inoculation and the most frequently isolated agent is the Fonsecaea pedrosoi. OBJECTIVES: This study aims at evaluating patients suffering from chromoblastomycosis admitted into the Department of Dermatology of the University Hospital of the Faculty of Medicine of São Paulo State during the ten-year period from 1997 to 2007. METHODS: It is a retrospective study and the medical report cards of 27 Brazilian patients diagnosed as suffering from Chromoblastomycosis from 1997 to 2007 at the Dermatology Department of the Medical School, University of Sao Paulo were reviewed. The following items were analyzed: previous therapeutic approaches; treatment implemented by the group; length of time between the appearing of the lesion and diagnosis; age; gender; profession; origin; site of lesions; isolated agents found in culture and histopathology. RESULTS: Twenty two patients were from the state of Sao Paulo whereas the others came from the states of Bahia and Rondonia. 37% of them were rural workers. Men were more frequently infected (85%). Lesions were more commonly found on the lower limbs (59.2%). In 52% of the cases the isolated agent was the dematiaceous fungus Fonsecaea. pedrosoi. Biopsies showed sclerotic bodies in 92.5% of the cases. CONCLUSION: Data found are in accordance with medical literature on the subject. The disease had been previously studied in our institution in 1983 by Cucé et al. This present study is the second retrospective one about the characteristics of patients suffering from chromoblastmycosis which has been published in indexed medical literature in the state of Sao Paulo.

Avaliação clínica, dermatoscópica e histopatológica do nevo de Meyerson: relato de caso / Clinical, dermoscopic and histopathological evaluation of the Meyerson nevus: case report

O nevo de Meyerson ocorre quando uma rara erupção eczematosa focal e transitória surge ao redor de lesões melanocíticas. O mesmo fenômeno também foi observado em lesões não melanocíticas. O caso relatado é o de um doente masculino, 25 anos, que há dois meses notara surgimento de eritema e prurido, circundando dois nevos, localizados no abdome. As lesões eram atípicas à dermatoscopia e procedeu-se à excisão cirúrgica dos dois nevos. O exame histopatológico revelou nevos melanocíticos compostos displásicos, envolvidos por espongiose e vesículas intraepidérmicas. O presente relato sugere que o fenômeno de Meyerson não modifica as características dermatoscópicas dos nevos.

Meyerson nevi occur whenever a rare focal and transitory eczematous eruption arises around melanocytic lesions. The same phenomenon has also been observed in non-melanocytic lesions as well. Herein we report the case of a 25 year old, male patient, who had noticed, two months before, the arising of a pruriginous and erithematous halo around two nevi localized on his abdomen. The lesions were found to be atypical on dermoscopic examination and he was submitted to surgical excision of both nevi. Histopathological examination revealed displastic compound melanocytic nevi, surrounded by intraepidermical vesicles and spongiosis. Present report suggests that Meyerson phenomenon does not seem to alter dermoscopic features of nevi.

Cromoblastomicose: relato de 27 casos e revisão da literatura / Chromoblastomycosis: study of 27 cases and review of medical literature

FUNDAMENTOS: A cromoblastomicose é uma micose subcutânea que acomete principalmente homens trabalhadores rurais, sendo cada vez mais observada em outras atividades profissionais. O fungo penetra na pele após inoculação, e o agente mais frequentemente isolado é a Fonsecaea pedrosoi. OBJETIVOS: Este estudo visa a avaliar os pacientes com cromoblastomicose admitidos no departamento de dermatologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo no período de 1997 a 2007. MÉTODOS: É um estudo retrospectivo, utilizando a revisão de prontuários, e inclui 27 pacientes. Analisaram-se os tratamentos prévios e os atuais instituídos, o tempo entre o aparecimento das lesões e o diagnóstico, a idade, o gênero, a profissão, a procedência, a localização das lesões e os agentes isolados em cultivo. RESULTADOS: Vinte e dois pacientes eram procedentes do estado de São Paulo. Os demais eram procedentes da Bahia e Rondônia. A maioria dos pacientes estudados eram trabalhadores rurais (37 por cento). Os homens foram os mais acometidos (85 por cento). A maior parte dos pacientes apresentava lesões nos membros inferiores (59,2 por cento). Em 52 por cento dos casos foi isolado o fungo F. pedrosoi. O exame anatomopatológico mostrou corpos escleróticos em 92,5 por cento dos casos. CONCLUSÃO: Os dados encontrados estão concordantes com os da literatura, sendo este o segundo estudo retrospectivo sobre as características dos doentes portadores de cromoblastomicose no âmbito do estado de São Paulo publicado na literatura indexada.

BACKGROUND: Chromoblastomycosis is a subcutaneous mycosis that occurs mainly in rural workers although is being more commonly found among people working in other sectors. The fungus penetrates the skin after its inoculation and the most frequently isolated agent is the Fonsecaea pedrosoi. OBJECTIVES: This study aims at evaluating patients suffering from chromoblastomycosis admitted into the Department of Dermatology of the University Hospital of the Faculty of Medicine of São Paulo State during the ten-year period from 1997 to 2007. METHODS: It is a retrospective study and the medical report cards of 27 Brazilian patients diagnosed as suffering from Chromoblastomycosis from 1997 to 2007 at the Dermatology Department of the Medical School, University of Sao Paulo were reviewed. The following items were analyzed: previous therapeutic approaches; treatment implemented by the group; length of time between the appearing of the lesion and diagnosis; age; gender; profession; origin; site of lesions; isolated agents found in culture and histopathology. RESULTS: Twenty two patients were from the state of Sao Paulo whereas the others came from the states of Bahia and Rondonia. 37 percent of them were rural workers. Men were more frequently infected (85 percent). Lesions were more commonly found on the lower limbs (59.2 percent). In 52 percent of the cases the isolated agent was the dematiaceous fungus Fonsecaea. pedrosoi. Biopsies showed sclerotic bodies in 92.5 percent of the cases. CONCLUSION: Data found are in accordance with medical literature on the subject. The disease had been previously studied in our institution in 1983 by Cucé et al. This present study is the second retrospective one about the characteristics of patients suffering from chromoblastmycosis which has been published in indexed medical literature in the state of Sao Paulo.

Toxic epidermal necrolysis-like cutaneous lupus erythematosus: A series of three patients.

Toxic epidermal necrolysis-like lesions have been described in the setting of lupus erythematosus, and have been considered as a specific hyperacute variant of cutaneous lupus erythematosus, with features different from classical drug-related toxic epidermal necrolysis. We report here a series of three patients with lupus erythematosus who presented with severe worsening of their cutaneous disease in a toxic epidermal necrolysis-like fashion. We compared these cases with cases reported previously. Based on this discussion, we speculate that some of these patients may have classical drug-related toxic epidermal necrolysis rather than lupus erythematosus-related toxic epidermal necrolysis.

Laser de Erbium 2940 nm fracionado com pulso duplo, para o fotorrejuvenescimento: estudo clínico e histopatológico dos efeitos no tecido cutâneo / 2940-nm Erbium Laser, fractionated with dual pulse, for photorejuvenation: clinical and pathologic trial of eff ects on skin tissue

Introdução: Há anos, o laser de Erbium 2940 nm é utilizado no tratamento do fotoenvelhecimento, com duração de pulso de 0,25 ms. Atualmente, tem sido mais usado na forma fracionada. Uma nova duração de pulso de 5 ms foi introduzida, na tentativa de promover a coagulação do tecido, além de ablação, melhorando sua atuação no tratamento. Objetivo: Verifi car o mecanismo pelo qual os raios desse laser atuam sobre o tecido cutâneo, em sua forma fracionada e com pulso duplo, clínica e histopatologicamente. Material e métodos: Seis pacientes do sexo feminino com fotoenvelhecimento acentuado (graus III e IV, na classifi cação de Fitzpatrick) foram submetidas a essa técnica. Realizaram-se biópsias uma semana antes e dois meses após o tratamento, e foram feitas avaliações clínica e histológica com a utilização das seguintes colorações: hematoxilina-eosina, Verhoeff e tricrômico de Masson. Resultados: Houve melhora clínica importante em todas as pacientes e a histologia mostrou focos de dimensões compatíveis com as do raio do laser (microbeam) disparado, no qual ocorria redução da elastose solar. Em dois casos com resultados mais expressivos, essas áreas foram mensuradas. Conclusões: Clinicamente, houve melhora acentuada nas seis pacientes tratadas. Encontraramse alterações focais de dimensões semelhantes às dos raios disparados, enquanto estudos anteriores com Erbium 2940 nm fracionado apresentaram áreas não circunscritas de neocolagênese.

Introduction: The 2940-nm Erbium Laser has been used for years in photoaging treatment, with pulse duration of 0.25 ms. Currently, it has been widely used in fractionated mode. New pulse duration of 5 ms was introduced in an attempt to promote tissue coagulation, in addition to ablation, improving its treatment performance. Objective: To investigate the mechanism by which this laser rays act on cutaneous tissue, in its fractionated and dual pulse mode, clinically and histopathologically. Material and methods: Six female patients with marked photoaging (Fitzpatrick Classifi cation Scale, degrees III and IV) were designated to this technique. Biopsies were performed 1 week before and 2 months after treatment. Clinical and histological assessments were conducted using the following stains: hematoxylin-eosin, Verhoeff, and Masson's trichrome. Results: There was signifi cant clinical improvement in all patients, and histology showed foci sizes compatible with the laser microbeam shot in areas where decreased solar elastosis occurred. In two cases with more signifi cant results, these areas were measured. Conclusions: Clinically, there was marked improvement in six patients treated. Focal changes were found and they were similar in size to the rays shot, while previous studies with fractionated 2940- nm Erbium showed areas of non-circumscribed neocollagenesis.

Manifestações cutâneas das trombofilias / Cutaneous manifestations of thrombophilia

O escopo deste artigo é revisar os estados de hipercoagulabilidade sangüínea (trombofilias) mais provavelmente encontrados por dermatologista. Seus sinais cutâneos incluem o livedo reticular, necrose cutânea, ulcerações e isquemia digital, púrpura retiforme, além de úlceras nas pernas. Revisamos seu tratamento adequado, bem como ressaltamos as manifestações cutâneas que impõem pesquisa laboratorial de trombofilias e os exames indicados nessas situações.

The aim of this article is to review the hypercoagulable states (thrombophilia) most probably found by dermatologists; their cutaneous signs including livedo racemosa, skin necrosis, digital ischemia and ulcerations, retiform purpura and leg ulcers; their appropriate treatment; to describe the skin manifestations that require laboratory tests for thrombophilias and the tests indicated in these clinical conditions.

Urticaria unresponsive to antihistaminic treatment: an open study of therapeutic options based on histopathologic features.

BACKGROUND: The non- or low-sedating H1 receptor antagonists represent the basic therapy for urticaria. OBJECTIVE: To test an alternative approach to patients unresponsive to conventional treatment. MATERIALS AND METHODS: A total of 22 patients with chronic urticaria unresponsive to conventional antihistamine treatment were enrolled for this study. They had uncontrolled urticaria even using multiple combinations of antihistamines on maximum doses and corticosteroids in short cycles (prednisone 20-40 mg, per os once a day, 3-7 days per month). Cutaneous biopsies of the urticaria lesions were taken. These findings were classified as: (I) a mixture of perivascular dermal inflammatory infiltrate composed of lymphocytes, monocytes and neutrophils and/or eosinophils; (II) inflammatory infiltrate composed chiefly of neutrophils; and (III) inflammatory infiltrate composed mainly of eosinophils. According to histology, the patients were submitted to one of the following therapeutic schemes: class A - antihistamine treatment plus dapsone; class B - colchicine or dapsone; class C - montelukast. RESULTS: Four patients in class A, 08 in class B and seven in class C displayed complete control of urticaria after 12 weeks of treatment; one patient in class B and two in class C did not respond to treatment. Two years after discontinuation, 16 patients are still free of urticaria. CONCLUSIONS: This study suggests an alternative approach for treating unresponsive chronic urticaria.

Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes.

PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.