RESUMEN
Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD-HS). However, molecular alterations in DDD-HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD-HS, one of those, under Adalimumab treatment. Our results have shown downregulation of NOTCH1/NCSTN pathway, distinct molecular profiles of inflammatory cytokines (IL23A and TNF), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (SPRR1B, SPRR2D, SPRR3, and IVL) in paired HS lesions of two DDD patients.
Asunto(s)
Citocinas/metabolismo , Regulación de la Expresión Génica , Hidradenitis Supurativa/patología , Hiperpigmentación/patología , Mediadores de Inflamación/metabolismo , Receptor Notch1/metabolismo , Enfermedades Cutáneas Genéticas/patología , Enfermedades Cutáneas Papuloescamosas/patología , Adulto , Secretasas de la Proteína Precursora del Amiloide/genética , Secretasas de la Proteína Precursora del Amiloide/metabolismo , Proteínas Ricas en Prolina del Estrato Córneo/genética , Proteínas Ricas en Prolina del Estrato Córneo/metabolismo , Femenino , Hidradenitis Supurativa/complicaciones , Hidradenitis Supurativa/genética , Hidradenitis Supurativa/metabolismo , Humanos , Hiperpigmentación/complicaciones , Hiperpigmentación/genética , Hiperpigmentación/metabolismo , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Persona de Mediana Edad , Pronóstico , Receptor Notch1/genética , Enfermedades Cutáneas Genéticas/complicaciones , Enfermedades Cutáneas Genéticas/genética , Enfermedades Cutáneas Genéticas/metabolismo , Enfermedades Cutáneas Papuloescamosas/complicaciones , Enfermedades Cutáneas Papuloescamosas/genética , Enfermedades Cutáneas Papuloescamosas/metabolismoRESUMEN
Abstract White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.
Asunto(s)
Humanos , Femenino , Anciano , Enfermedades Cutáneas Papuloescamosas/patología , Cuello/patología , Biopsia , Fibrosis , Dermis/patología , Tejido Elástico/patologíaRESUMEN
White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.
Asunto(s)
Cuello/patología , Enfermedades Cutáneas Papuloescamosas/patología , Anciano , Biopsia , Dermis/patología , Tejido Elástico/patología , Femenino , Fibrosis , HumanosRESUMEN
La papulosis fibrosa blanca del cuello es una patología benigna, que se presenta frecuentemente en personas mayores y que se caracteriza por pápulas blanquecinas ubicadas habitualmente en las regiones laterales del cuello. El hallazgo histopatológico distintivo es el incremento de las fibras de colágeno en la dermis papilar. Su etiopatogenia es, hasta ahora, desconocida y su tratamiento es difícil. Dado que corresponde a una patología infrecuente, probablemente subdiagnosticada, es que se decide reportar el caso de una mujer chilena de 77 años.
White fibrous papulosis of the neck is a benign pathology, which usually occurs in old people and is characterized by whitish papules that are frequently located in the lateral regions of the neck. The distinctive histopathological finding is the increase of collagen fibers in the papillary dermis. Its pathophysiology is not currently known and its treatment is difficult. Due to being a rare pathology, probably underdiagnosed, it was decided to report the case of a 77-yearold chilean woman.
Asunto(s)
Humanos , Femenino , Anciano , Envejecimiento de la Piel/patología , Enfermedades Cutáneas Papuloescamosas/patología , Cuello/patología , Biopsia , Diagnóstico DiferencialRESUMEN
La enfermedad de Dowling-Degos (DDD), conocida también como 'anomalía reticulada y pigmentada de las flexuras' es una rara genodermatosis autosómica dominante. Se caracteriza por la aparición de máculas hiperpigmentadas de configuración reticulada; afectando principalmente los grandes pliegues como las axilas e ingles. Pudiendo, además, comprometer otros pliegues como cervicales, antecubitales, submamarios e interglúteos. Otras características asociadas son las lesiones tipo comedones y los pits palmo-plantares. Presentamos el caso de una familia con enfermedad de Dowling-Degos sin respuesta al tratamiento con laser Nd:YAG y CO2. Se realiza una revisión de la literatura de los tratamientos disponibles.
Dowling-Degos disease (DDD), also known as "reticulate pigmented anomaly of the flexures", is a rare autosomal dominant genodermatosis. DDD is characterized by an acquired reticular skin hyperpigmentation which begins in the axillae and groin. It later involves other body folds, including neck, inner aspects of the arms and thighs, inframammary, and intergluteal folds. Associated features include comedolike lesions on the neck or back, pitted facial or perioral scars, and epidermoid cysts. Herein we present a family (proband, mother, grandmother) with DDD that were treated with Q-switched Nd:YAG laser and CO2 laser without response. Treatment options are discussed and the available literature is reviewed.
Asunto(s)
Humanos , Femenino , Adulto , Enfermedades Cutáneas Genéticas/terapia , Enfermedades Cutáneas Papuloescamosas/terapia , Hiperpigmentación/terapia , Láseres de Estado Sólido/uso terapéutico , Enfermedades Cutáneas Genéticas/patología , Dióxido de Carbono , Enfermedades Cutáneas Papuloescamosas/patología , Hiperpigmentación/patología , NeodimioRESUMEN
Clear cell papulosis is a rare, self-limited, benign disease of early childhood, characterized by white macules and flat papules over the milk line. Histopathologically, it is characterized by scattered clear cells throughout the basal and/or suprabasal epidermal layers, which-as clear cells of Toker of the nipple do-typically express cytokeratin 7. They also exhibit other markers expected for adenoid differentiation, such as low-molecular weight cytokeratins, carcinoembryonic antigen, epithelial membrane antigen, and mucin. The age of onset, distribution of lesions, histopathology, and its benign behavior nature help to exclude clinically similar conditions, either benign or malignant. The authors report a case of clear cell papulosis in a 7-year-old Brazilian girl in whom lesions were observed on the legs and histologically formed by solid and adenoid aggregates of clear cells, in a similar fashion than clear fetal cells of Toker.
Asunto(s)
Enfermedades Cutáneas Papuloescamosas/patología , Piel/patología , Biomarcadores/análisis , Biopsia , Niño , Femenino , Humanos , Inmunohistoquímica , Queratina-7/análisis , Extremidad Inferior , Piel/química , Enfermedades Cutáneas Papuloescamosas/metabolismoAsunto(s)
Granuloma de Células Gigantes/patología , Cefalea/fisiopatología , Enfermedades Cutáneas Papuloescamosas/patología , Brazo , Biopsia con Aguja , Diagnóstico Diferencial , Femenino , Granuloma de Células Gigantes/diagnóstico , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Enfermedades Raras , Recurrencia , Enfermedades Cutáneas Papuloescamosas/diagnósticoRESUMEN
Twelve previously unreported cases of nevus comedonicus are presented. Characteristic closely grouped dilated follicular openings with horny plugs that mimic comedones led to the diagnosis. One patient had nevus comedonicus syndrome and there were cases with atypical locations and unusual complications of this condition. We also highlight clinical associations and therapeutic options.
Asunto(s)
Nevo Intradérmico/epidemiología , Nevo Intradérmico/patología , Anomalías Cutáneas/epidemiología , Anomalías Cutáneas/patología , Enfermedades Cutáneas Papuloescamosas/epidemiología , Enfermedades Cutáneas Papuloescamosas/patología , Adolescente , Argentina , Biopsia con Aguja , Niño , Femenino , Humanos , Inmunohistoquímica , Incidencia , Masculino , Nevo Intradérmico/cirugía , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Muestreo , Anomalías Cutáneas/cirugía , Enfermedades Cutáneas Papuloescamosas/cirugíaRESUMEN
Papular elastorrhexis is a rare acquired disease, first described in 1987 by Bordas, which has been very rarely reported in the literature. It is characterized by small asymptomatic non-follicular papules, mainly distributed in the trunk. Histology of the lesions shows homogenization of collagen and fragmentation of elastic fibers in the dermis. The rarity of this disease is probably due to the subtlety and benign nature of clinical and histopathological alterations, which can be easily confused with other pathologies. The authors report the case of a patient with exuberant clinical manifestations typical of elastorrhexis papular.
Asunto(s)
Tejido Elástico/patología , Enfermedades Cutáneas Papuloescamosas/patología , Adulto , Femenino , Humanos , Enfermedades RarasRESUMEN
BACKGROUND: Among the papular-pruriginous dermatoses related to human immunodeficiency (HIV) infection, two entities remain poorly differentiated leading to confusion in their diagnosis: HIV-related pruritic papular eruption (HIV-PPE or prurigo) and eosinophilic folliculitis (HIV-EF). OBJECTIVE: To establish histopathological and immunohistochemical parameters to differentiate between two conditions associated with HIV infection, the pruritic papular eruption (HIV-PPE) and eosinophilic folliculitis (HIV-EF). METHODS: Clinically typical HIV-PPE (18 cases) and HIV-EF (10 cases) cases were compared with each other in terms of the following topics: clinical and laboratory features (gender, age, CD4+ cell and eosinophil count), histopathological features (hematoxylin-eosin and toluidine blue staining) and immunohistochemical features (anti-CD1a, anti-CD4, anti-CD7, anti-CD8, anti-CD15, anti-CD20, anti-CD30, anti-CD68/macrophage and anti-S-100 reactions). RESULTS: Among the HIV-EF patients, we found an intense perivascular and diffuse inflammatory infiltration compared with those patients with HIV-PPE. The tissue mast cell count by toluidine staining was higher in the HIV-EF patients, who also presented higher expression levels of CD15 (for eosinophils), CD4 (T helper), and CD7 (pan-T lymphocytes) than the HIV-PPE patients. LIMITATIONS: Only quantitative differences and not qualitative differences were found. CONCLUSIONS: These data indicate that HIV-related PPE and EF could possibly be differentiated by histopathological and immunohistochemical findings in addition to clinical characteristics. In fact, these two inflammatory manifestations could be within the spectrum of the same disease because only quantitative, and not qualitative, differences were found.
Asunto(s)
Eosinofilia/patología , Foliculitis/patología , Infecciones por VIH/complicaciones , Prurito/patología , Enfermedades Cutáneas Papuloescamosas/patología , Enfermedades Cutáneas Vesiculoampollosas/patología , Adulto , Biomarcadores/metabolismo , Biopsia , Diagnóstico Diferencial , Eosinofilia/inmunología , Eosinofilia/virología , Femenino , Foliculitis/inmunología , Foliculitis/virología , Infecciones por VIH/inmunología , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Prurito/inmunología , Prurito/virología , Estudios Retrospectivos , Piel/patología , Enfermedades Cutáneas Papuloescamosas/inmunología , Enfermedades Cutáneas Papuloescamosas/virología , Enfermedades Cutáneas Vesiculoampollosas/inmunología , Enfermedades Cutáneas Vesiculoampollosas/virologíaRESUMEN
La elastólisis de la dermis papilar similar a pseudoxantoma elástico es un raro trastorno adquirido caracterizado por pápulas y placas amarillentas localizadas principalmente en cuello y región supraclavicular. Los hallazgos histopatológicos y la ausencia de afectación sistémica lo diferencian del pseudoxantoma elástico. Comunicamos seis pacientes de sexo femenino de entre 72 y 79 años con diagnóstico clínico e histopatológico de esta entidad.
Asunto(s)
Humanos , Femenino , Anciano , Dermis/patología , Tejido Elástico/patología , Diagnóstico Diferencial , Enfermedades Cutáneas Papuloescamosas/diagnóstico , Enfermedades Cutáneas Papuloescamosas/patología , Seudoxantoma ElásticoRESUMEN
Paraneoplastic syndromes associated with head and neck cancer are rare and have been reported under dermatological, endocrine, hematological, neurological and rheumatological disorders. Bazex syndrome is an intriguing paraneoplasia that can be associated with head and neck squamous cell carcinomas. A range of symmetrical dermatological manifestations, with a clear predilection to extremities, that encompasses erythematous squamous plaques, skin scaling and nail dystrophy can provide a psoriasiform pattern in Bazex syndrome. In addition to these tricky clinical features, the rarity of the disease and the lack of understanding on Bazex syndrome generally make such cases to be mismanaged as psoriasis or lichen planus, causing an important delay in the diagnosis of the underlying malignancy. The authors describe a case of Bazex syndrome that occurred in a patient with a recently diagnosed tongue squamous cell carcinoma. Clinicians should consider paraneoplasia when assessing skin and/or oral persistent lesions.
Asunto(s)
Onicólisis/patología , Úlceras Bucales/patología , Síndromes Paraneoplásicos/patología , Enfermedades Cutáneas Papuloescamosas/patología , Aneurisma/patología , Carcinoma Basocelular/patología , Resultado Fatal , Histiocitoma Fibroso Benigno/patología , Humanos , Hipotricosis/patología , Masculino , Persona de Mediana Edad , Membrana Mucosa/patología , Enfermedades del Pene/patología , Piel/patología , Neoplasias Cutáneas/patologíaRESUMEN
Las blaschkitis pueden definirse como procesos adquiridos inflamatorios cutáneos que asientan en las líneas de Blaschko y pueden tener diversas características clínicas e histopatológicas. Cuando éstas se localizan en la cara se mencionan el liquen estriado, el liquen plano lineal y el lupus eritematoso lineal. Se presenta el caso de una mujer de 42 años de edad con una blaschkitis de 4 meses de evolución localizada en frente cuya histopatología evidenció un ataque centrofolicular inflamatorio y destructivo. Se plantean diagnósticos diferenciales y se comunica la exitosa respuesta terapéutica al tacrolimus tópico.
Asunto(s)
Humanos , Adulto , Femenino , Enfermedades Cutáneas Papuloescamosas/diagnóstico , Enfermedades Cutáneas Papuloescamosas/patología , Diagnóstico Diferencial , Eritema/patología , Piel/patología , Tacrolimus/administración & dosificación , Tacrolimus/toxicidadRESUMEN
A 69-year-old woman presented with white papules on her neck. These papules were multiple, white, discrete, asymptomatic, non-follicular, 2 to 3 mm in diameter, and located on both sides of the neck. On histopathological examination, there was a thickened and abnormal organization of collagen bundles in the papillary to mid-dermis and a decrease in the number of elastic fibers. This clinical and histological picture suggested the diagnosis of white fibrous papulosis of the neck. No treatment was given because of the benign nature of the disease. This is the first case report of this condition in South America.
Asunto(s)
Enfermedades Cutáneas Papuloescamosas/patología , Anciano , Brasil , Femenino , Humanos , CuelloRESUMEN
Pruritic Papular Eruption with Human Immunodeficiency Virus infection (PPE-HIV) is characterized by symmetrically distributed papules with pruritus in the skin of patients suffering advanced HIV infection. Although known since 1985, the etiology of this symptomatic dermatitis is unclear. We set out to characterize the phenotype of the infiltrating cells and the cytokine profile in the lesions, as an attempt to contribute to determining its etiopathogenesis. Clinical data and histological, immunohistochemical, and ultrastructural features of skin biopsies from 20 HIV patients with PPE were studied. The histopathological aspects, cell immunophenotypes, and cytokine expressions in the lesions where quantified and compared to perilesional skin, and to those in the clinically normal skin of HIV patients without PPE-HIV (n=11) and those in normal skin samples from HIV negative individuals (n=10). PPE-HIV occurred mainly in HIV patients with mean CD4+ counts of 124.6 +/- 104 lymphocytes/mm3. Furthermore, their eosinophil counts were significantly increased. The skin lesions were characterized by a predominantly perivascular dermal lymphohistiocytic inflammatory infiltrate. Langerhans cells were normally distributed in the epidermis and seen among the cellular components of dermal infiltrates. The density of CD8+ lymphocytes was elevated and the density of CD4+ cells was reduced in dermal infiltrates. Interleukin 5 was the predominant cytokine in the lesions. Electron microscopic analysis didn't disclose HIV or other infectious agents in the lesions. These results refute the hypothesis of an infectious etiology of PPE-HIV. CD8+ lymphocytes and Langerhans cells seem to have roles in the pathogenesis of PPE-HIV. The increased frequency of IL5 was associated with abundant eosinophils in the lesions, suggesting a type Th2 response in this dermatitis.