RESUMO
Discoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and RNA sequencing technologies to characterize a consanguineous Lebanese family with four affected individuals who presented with classical scalp DLE and generalized folliculitis. Our results unraveled a novel biallelic variant c.1313C > A leading to a missense substitution p.(Thr438Asn) in TRAF3IP2(NM_147200.3). Expression studies in cultured cells revealed mis-localization of the mutated protein. Functional characterization of the mutated protein showed significant reduction in the physical interaction with the interleukin 17-A receptor (IL17RA), while interaction with TRAF6 was unaffected. By conducting a differential genome-wide transcriptomics analysis between affected and non-affected individuals, we showed that the hair follicle differentiation pathway is drastically suppressed, whereas cytokine and inflammation responses are significantly upregulated. Furthermore, our results were highly concordant with molecular signatures in patients with DLE from a public dataset. In conclusion, this is the first report on a new putative role for TRAF3IP2 in the etiology of DLE. The identified molecular features associated with this gene could pave the way for better DLE-targeted treatment.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Alopecia/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Lúpus Eritematoso Discoide/genética , Receptores de Interleucina-17/genética , Adolescente , Alopecia/diagnóstico por imagem , Alopecia/patologia , Criança , Pré-Escolar , Consanguinidade , Feminino , Foliculite/diagnóstico por imagem , Foliculite/genética , Foliculite/patologia , Predisposição Genética para Doença , Humanos , Lúpus Eritematoso Discoide/diagnóstico por imagem , Lúpus Eritematoso Discoide/patologia , Masculino , Linhagem , Ligação Proteica/genética , Mapas de Interação de Proteínas , Análise de Sequência de RNA , Sequenciamento do ExomaRESUMO
BACKGROUND: Clinical differentiation of folliculitis types is challenging. Dermoscopy supports the recognition of folliculitis etiology, but its diagnostic accuracy is not known. OBJECTIVE: To assess the diagnostic accuracy of dermoscopy for folliculitis. METHODS: This observational study included patients (N = 240) with folliculitis determined on the basis of clinical and dermoscopic assessments. A dermoscopic image of the most representative lesion was acquired for each patient. Etiology was determined on the basis of cytologic examination, culture, histologic examination, or manual hair removal (when ingrowing hair was detected) by dermatologist A. Dermoscopic images were evaluated according to predefined diagnostic criteria by dermatologist B, who was blinded to the clinical findings. Dermoscopic and definitive diagnoses were compared by dermatologist C. RESULTS: Of the 240 folliculitis lesions examined, 90% were infections and 10% were noninfectious. Infectious folliculitis was caused by parasites (n = 71), fungi (n = 81), bacteria (n = 57), or 7 viruses (n = 7). Noninfectious folliculitis included pseudofolliculitis (n = 14), folliculitis decalvans (n = 7), and eosinophilic folliculitis (n = 3). The overall accuracy of dermoscopy was 73.7%. Dermoscopy showed good diagnostic accuracy for Demodex (88.1%), scabietic (89.7%), and dermatophytic folliculitis (100%), as well as for pseudofolliculitis (92.8%). LIMITATIONS: The diagnostic value of dermoscopy was calculated only for common folliculitis. Diagnostic reliability could not be calculated. CONCLUSION: Dermoscopy is a useful tool for assisting in the diagnosis of some forms of folliculitis.
Assuntos
Dermoscopia , Eosinofilia/diagnóstico por imagem , Foliculite/diagnóstico por imagem , Foliculite/etiologia , Dermatopatias Infecciosas/complicações , Dermatopatias Infecciosas/diagnóstico por imagem , Dermatopatias Vesiculobolhosas/diagnóstico por imagem , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Dermatomicoses/complicações , Dermatomicoses/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Foliculite/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Escabiose/complicações , Escabiose/diagnóstico por imagem , Método Simples-Cego , Dermatopatias Bacterianas/complicações , Dermatopatias Bacterianas/diagnóstico por imagem , Dermatopatias Virais/complicações , Dermatopatias Virais/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND AND OBJECTIVE: Malassezia Folliculitis (MaF) is an inflammatory condition of hair follicles caused by Malassezia yeast. Optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) are imaging technologies enabling in vivo visualization of superficial skin layers. This study explores morphology of pustules in MaF imaged by OCT and RCM. METHODS: Patients with microscopically verified MaF were included in this case series. Morphology was evaluated qualitatively with RCM and OCT, focusing on shape, border and content of selected pustules. RESULTS: Nine patients with MaF were included. Clinically, six patients presented monomorphic MaF with multiple superficial pustules, while three patients showed more polymorph MaF appearance. In total 13 pustules were investigated by RCM and OCT. In RCM images, pustules varied from having a well-defined border with homogenous content to ill-defined borders with heterogeneous content. A distinct black halo was occasionally observed around pustules as were dilated vessels. In OCT images, pustules appeared polymorphic, showing both well- and ill-defined structures with oval or irregular shape and more or less homogenous content. Malassezia fungi were not discernible by either RCM or OCT. Specific morphological image features in RCM and OCT did not reflect different clinical manifestations of MaF. CONCLUSION: RCM and OCT images identify morphological aspects of MaF pustules, and confirm that MaF is a folliculitis with clinical as well as morphological variance.
Assuntos
Dermatomicoses/diagnóstico por imagem , Foliculite/diagnóstico por imagem , Malassezia , Microscopia Confocal , Tomografia de Coerência Óptica , Adolescente , Adulto , Idoso , Dermatomicoses/patologia , Feminino , Foliculite/microbiologia , Foliculite/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemAssuntos
Doenças do Cabelo/diagnóstico por imagem , Cabelo/ultraestrutura , Microscopia Intravital/métodos , Animais , Diagnóstico Diferencial , Resíduos de Drogas/análise , Foliculite/diagnóstico , Foliculite/diagnóstico por imagem , Cabelo/química , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/parasitologia , Preparações para Cabelo , Humanos , Infestações por Piolhos/diagnóstico , Infestações por Piolhos/diagnóstico por imagem , Infestações por Piolhos/parasitologia , Óvulo , PediculusRESUMO
Malassezia folliculitis is an under-recognizedentity commonly affecting the face and upper trunk. Clinical picture mimics acne vulgaris and diagnosis is challenging at times. 10% potassium hydroxide examination is usually performed to confirm the diagnosis. This study sought to describe the dermoscopic features in Malassezia folliculitis. Patients diagnosed clinically with Malassezia folliculitis and confirmed by 10% potassium hydroxide preparation were included in the study. Dermoscopy was performed with a videodermatoscope [Dinolite AM413ZT; Polarising] from the most representative lesion. A total of 45 patients (M:F = 1:0.8 ) were recruited. All patients had monomorphic papulo-pustular lesions. Itching was present in 64.4% patients. Dermoscopy reveled folliculocentricity (100%), perilesional background erythema (100%), dotted/linear/tortous vessels (88.9%), dirty white scaling (77.8%), hypo pigmentation of hair follicle (64.4%), coiled/looped hairs (57.8%) and broken hairs (13.3%). In conclusion, dermoscopy shows typical features in Malassezia folliculitis and can serve as a office based tool for identification of this entity (AU)
La foliculitis por Malassezia es una entidad que no está debidamente reconocida y que afecta normalmente a la cara y tronco superior. El cuadro clínico remeda el acné vulgar, siendo a veces difícil su diagnóstico. Normalmente se realiza un examen con hidróxido de potasio al 10% para confirmar el mismo. El objetivo de este estudio fue describir las características dermatoscópicas de la foliculitis por Malassezia, incluyéndose en el mismo a los pacientes diagnosticados clínicamente y confirmados mediante aplicación de hidróxido de potasio al 10%. La dermatoscopia fue realizada con un videodermatoscopio [Dinolite AM413ZT; Polarising] en la lesión más representativa. Se incluyó a un total de 45 pacientes (V:M = 1:0.8). Todos los pacientes tenían lesiones monomórficas papulopustulosas. El 64% de los pacientes presentó prurito. La dermatoscopia reveló foliculocentricidad (100%), eritema circundante perilesional (100%), vasos punteados/lineales/tortuosos (88,9%), escamas de color gris parduzco (77,8%), hipopigmentación del folículo piloso (64,4%), pelos en espiral/enrollados (57,8%) y rotura del pelo (13,3%). En conclusión, la dermatoscopia muestra las características típicas de la foliculitis por Malassezia, pudiendo servir de ayuda en consulta como herramienta para la identificación de esta entidad (AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Dermatomicoses/diagnóstico por imagem , Foliculite/diagnóstico por imagem , Foliculite/microbiologia , Malassezia , DermoscopiaRESUMO
La foliculitis por Malassezia es una entidad que no está debidamente reconocida y que afecta normalmente a la cara y tronco superior. El cuadro clínico remeda el acné vulgar, siendo a veces difícil su diagnóstico. Normalmente se realiza un examen con hidróxido de potasio al 10% para confirmar el mismo. El objetivo de este estudio fue describir las características dermatoscópicas de la foliculitis por Malassezia, incluyéndose en el mismo a los pacientes diagnosticados clínicamente y confirmados mediante aplicación de hidróxido de potasio al 10%. La dermatoscopia fue realizada con un videodermatoscopio [Dinolite AM413ZT; Polarising] en la lesión más representativa. Se incluyó a un total de 45 pacientes (V:M = 1:0.8). Todos los pacientes tenían lesiones monomórficas papulopustulosas. El 64% de los pacientes presentó prurito. La dermatoscopia reveló foliculocentricidad (100%), eritema circundante perilesional (100%), vasos punteados/lineales/tortuosos (88,9%), escamas de color gris parduzco (77,8%), hipopigmentación del folículo piloso (64,4%), pelos en espiral/enrollados (57,8%) y rotura del pelo (13,3%). En conclusión, la dermatoscopia muestra las características típicas de la foliculitis por Malassezia, pudiendo servir de ayuda en consulta como herramienta para la identificación de esta entidad (AU)
Malassezia folliculitis is an under-recognizedentity commonly affecting the face and upper trunk. Clinical picture mimics acne vulgaris and diagnosis is challenging at times. 10% potassium hydroxide examination is usually performed to confirm the diagnosis. This study sought to describe the dermoscopic features in Malassezia folliculitis. Patients diagnosed clinically with Malassezia folliculitis and confirmed by 10% potassium hydroxide preparation were included in the study. Dermoscopy was performed with a videodermatoscope [Dinolite AM413ZT; Polarising] from the most representative lesion. A total of 45 patients (M:F = 1:0.8 ) were recruited. All patients had monomorphic papulo-pustular lesions. Itching was present in 64.4% patients. Dermoscopy reveled folliculocentricity (100%), perilesional background erythema (100%), dotted/linear/tortous vessels (88.9%), dirty white scaling (77.8%), hypo pigmentation of hair follicle (64.4%), coiled/looped hairs (57.8%) and broken hairs (13.3%). In conclusion, dermoscopy shows typical features in Malassezia folliculitis and can serve as a office based tool for identification of this entity (AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Dermatomicoses/diagnóstico por imagem , Foliculite/diagnóstico por imagem , Foliculite/microbiologia , Malassezia , DermoscopiaRESUMO
Topical or systemic antifungal therapy was administered to patients diagnosed with Malassezia folliculitis during the 5-year period between March 2007 and October 2013. The diagnosis of Malassezia folliculitis was established on the basis of characteristic clinical features and direct microscopic findings (10 or more yeast-like fungi per follicle). Treatment consisted of topical application of 2% ketoconazole cream or 100 mg oral itraconazole based on symptom severity and patients' preferences. Treatment was given until papules flattened, and flat papules were examined to determine whether the patient's clinical condition had "improved" and the treatment had been "effective". The subjects were 44 patients (35 men, 9 women), with a mean disease period of 25±15 days. In regard to the lesion site, the frontal portion of the chest was the most common, accounting for 60% of all patients. The mean period required for improvement was 27±16 days in 37 patients receiving the topical antifungal agent and 14±4 days in the 7 patients receiving the systemic antifungal agent. The results were "improved" and the treatment was "effective" in all patients. Neither treatment resulted in any adverse reactions. Although administration of oral agents has been recommended for the treatment of Malassezia folliculitis, this study revealed that beneficial results are safely obtained with topical antifungal therapy alone, similar to those of systemic antifungal agents.
Assuntos
Antifúngicos/administração & dosagem , Dermatologia , Foliculite/tratamento farmacológico , Foliculite/microbiologia , Departamentos Hospitalares , Hospitais Universitários , Itraconazol/administração & dosagem , Cetoconazol/administração & dosagem , Malassezia , Tinha Versicolor , Administração Oral , Administração Tópica , Adolescente , Adulto , Feminino , Foliculite/diagnóstico por imagem , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
This report describes the usefulness of dermoscopy as a supportive diagnostic tool in a pseudomonas folliculitis case.
Assuntos
Dermoscopia/métodos , Foliculite/diagnóstico por imagem , Foliculite/microbiologia , Infecções por Pseudomonas/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Feminino , Foliculite/patologia , Humanos , Infecções por Pseudomonas/patologia , Pseudomonas aeruginosa/isolamento & purificação , Reprodutibilidade dos Testes , Pele/diagnóstico por imagem , Pele/microbiologiaRESUMO
BACKGROUND: There are limited data on the validity of dermatoscopy in primary cicatricial alopecias (PCAs) and its subtypes, including lichen planopilaris and discoid lupus erythematosus. Trichoscopic features of PCAs, their prevalence, and validity were evaluated in this study. METHODS: One hundred patients with PCA underwent dermatoscopy. Biopsy specimens were obtained after the site was marked with a dermatoscope. The control group comprised 100 patients with non-cicatricial alopecia and 100 normal individuals. Finally, the prevalence, sensitivity, and specificity of trichoscopic features were evaluated using SPSS and Stata software. RESULTS: The absence of follicular opening, perifollicular scale, and presence of one scarring pattern or white patch were sensitive and specific patterns in the trichoscopy of PCAs. The presence of tortuous branching vessels and follicular keratotic plugging was 100% specific for a diagnosis of discoid lupus erythematosus. CONCLUSIONS: Some trichoscopic features can help a dermatologist to differentiate between non-cicatricial alopecia and PCA. Moreover, a group of dermatoscopic features can be helpful in the diagnosis of PCA subtypes.
Assuntos
Alopecia/diagnóstico por imagem , Alopecia/etiologia , Dermoscopia , Dermatoses do Couro Cabeludo/diagnóstico por imagem , Pele/patologia , Adolescente , Adulto , Alopecia/patologia , Biópsia , Estudos de Casos e Controles , Cicatriz/etiologia , Feminino , Foliculite/complicações , Foliculite/diagnóstico por imagem , Foliculite/patologia , Humanos , Líquen Plano/complicações , Líquen Plano/diagnóstico por imagem , Líquen Plano/patologia , Lúpus Eritematoso Discoide/complicações , Lúpus Eritematoso Discoide/diagnóstico por imagem , Lúpus Eritematoso Discoide/patologia , Masculino , Pessoa de Meia-Idade , Dermatoses do Couro Cabeludo/complicações , Dermatoses do Couro Cabeludo/patologia , Sensibilidade e Especificidade , Adulto JovemRESUMO
OBJECTIVE: To describe the in vivo skin echostructure, hair follicle shape, and dermal thickness in hidradenitis suppurativa. DESIGN: Qualitative and quantitative assessment of high-frequency (20-MHz) B-mode ultrasound images of lesional and paralesional skin. SETTING: University hospital. PATIENTS: Age- and sex-matched outpatients with hidradenitis suppurativa (n = 15) and healthy control subjects (n = 13). Median age was 34 years (range, 31-38). RESULTS: Clinically normal paralesional hair follicles in hidradenitis have an abnormal shape. The follicles appear to be wider in the deep dermis, the difference being statistically significant in the genitofemoral region (P = .007). Patients with hidradenitis have larger follicles in the axilla than controls (P = .002). Mature acne and hidradenitis lesions are indistinguishable, but both are different from epidermal cysts. Mean axillary and genitofemoral skin was significantly thicker in patients than in controls. CONCLUSIONS: In vivo ultrasonography shows characteristic differences in the shape of hair follicles in hidradenitis. The general underlying abnormalities appear to occur in the deep part of the follicle. The mature lesions are indistinguishable from acne, but are clearly different from epidermal cysts. A thickened skin may play a pathogenic role in the development of hidradenitis.
Assuntos
Foliculite/diagnóstico por imagem , Folículo Piloso/diagnóstico por imagem , Adulto , Axila , Feminino , Genitália , Humanos , Perna (Membro) , Masculino , Pessoa de Meia-Idade , Supuração , UltrassonografiaRESUMO
Eosinophilic pustular folliculitis (EPF), also known as Ofuji's disease, is an inflammatory dermatosis that was first described in Japan in 1970. More than 300 cases have been reported so far, and 113 Japanese cases have been reported in Japan since 1980. To comprehend the characteristics of Japanese EPF cases, we classified these cases into three types: classic, immunosuppression-associated (IS-EPF), and infancy-associated (I-EPF). Trends in age of onset and in distribution and characterization of eruptions differed between the types. We found 91 cases of classic EPF (mean age, 39.7 years), consisting of 66 males (73%) and 25 females (27%), in most of which eruptions primarily affected the face; 18 cases of IS-EPF (44.2 years), consisting of 15 males (83%) and three females (17%), in which eruptions affected the face less predominantly; and four cases of I-EPF (7.0 years), consisting of two males (50%) and two females (50%), primarily affecting the scalp. The number of IS-EPF cases has increased since the late 1990s, reflecting the increasing number of HIV-positive patients in Japan. Systemic non-steroidal anti-inflammatory drugs were effective in more than 70% of cases. Dimethyl diphenyl sulfone, antibiotics including minocycline, psoralen plus ultraviolet A therapy and ultraviolet B treatments worked in some cases. Topical steroids and tacrolimus were also effective in some cases of EPF, while topical indomethacin was less effective.
Assuntos
Antibacterianos/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Eosinofilia/classificação , Foliculite/classificação , Glucocorticoides/uso terapêutico , Imunossupressores/uso terapêutico , Dermatopatias Vesiculobolhosas/classificação , Fatores Etários , Idade de Início , Povo Asiático , Eosinofilia/diagnóstico por imagem , Eosinofilia/tratamento farmacológico , Feminino , Foliculite/diagnóstico por imagem , Foliculite/tratamento farmacológico , Humanos , Japão , Masculino , Radiografia , Dermatopatias Vesiculobolhosas/diagnóstico por imagem , Dermatopatias Vesiculobolhosas/tratamento farmacológico , Terapia UltravioletaRESUMO
Abstract This report describes the usefulness of dermoscopy as a supportive diagnostic tool in a pseudomonas folliculitis case.