Assuntos
Humanos , Masculino , Adulto , Poroceratose/diagnóstico , Poroceratose/patologia , Poroceratose/terapiaRESUMO
Las poroqueratosis son un grupo heterogéneo de trastornos de la queratinización epidérmica, de presentación infrecuente. Se caracterizan clínicamente por pápulas hiperqueratósicas que confluyen y forman placas anulares con un centro atrófico y bordes sobreelevados. Hay seis variantes clínicas. El examen histopatológico evidencia la característica laminilla cornoide. Se presenta el caso de una niña de 2 años con diagnóstico de poroqueratosis de Mibelli y respuesta parcial al tratamiento tópico con tretinoína al 0,025%, que actualmente continúa en seguimiento clínico (AU)
Porokeratosis is a heterogeneous group of disorders in epidermal keratinization. It is an infrequent entity characterized clinically by hyperkeratotic papules that converge forming annular plaques with an atrophic center and raised borders. There are six clinical variants. The histopathological examination evidences the typical cornoid lamella. We present a 2-year-old girl diagnosed with porokeratosis of Mibelli and partial response to topical treatment of tretinoin 0,025%, still under clinical control (AU)
Assuntos
Humanos , Feminino , Pré-Escolar , Poroceratose/diagnóstico , Tretinoína/uso terapêutico , Poroceratose/patologia , Poroceratose/tratamento farmacológico , Ceratolíticos/uso terapêuticoRESUMO
Introducción: La Poroqueratosis de Mibelli es una entidad rara en nuestro país, incluida en el grupo de las genodermatosis, por ser un trastorno hereditario de la queratinización. Es de gran interés para varias ramas de la medicina: genética, dermatología, medicina interna entre otras. Caso clínico: Se presenta un caso en una familia portadora de esta enfermedad genética con carácter autosómico dominante, se identificaron 7 miembros afectados en 3 generaciones, sin complicaciones. El propósito fue confirmado a través del estudio histopatológico. Conclusiones: Aunque no es un problema relevante en el municipio y no tiene complicaciones que comprometan la vida de los pacientes, sí pueden verse afectados según la localización de las lesiones, por lo que es de gran importancia el asesoramiento genético a los miembros de la familia para evaluar el riesgo genético, para poder realizar la profilaxis y control de los miembros afectados y su descendencia(AU)
Introduction: Porokeratosis of Mibelli is a rare condition in our country. It is included in the group of genodermatoses, being as it is an inherited keratinization disorder. This skin condition if of great interest to several medical specialties, such as genetics, dermatology, internal medicine, and others. Clinical case: A case is presented of a family carrying this genetic disease of an autosomal dominant nature. Seven affected members were identified in three generations without any complications. The purpose was confirmed via histopathological examination. Conclusions: Although the study condition is not a relevant problem in the municipality and does not have complications threatening the lives of patients, these may be affected depending on the location of the lesions. Therefore, genetic counseling is of great importance, so that family members may evaluate the genetic risk, perform the corresponding prophylactic actions, and control affected members and their offspring(AU)
Assuntos
Humanos , Masculino , Feminino , Dermatopatias/genética , Poroceratose/genética , Poroceratose/epidemiologiaRESUMO
Este estudo demonstrou o resultado clínico e histológico do tratamento com laser fracionado não ablativo de paciente com poroqueratose actínica superficial disseminada. A paciente recebeu sete sessões de laser 1340-nm Nd:YAP, com intervalos de quatro a cinco semanas. Biópsias e fotos foram realizadas antes e após o tratamento, o qual foi bem tolerado e trouxe melhora do eritema e da textura das lesões. O seguimento foi de um ano. O exame anatomopatológico após o tratamento revelou pouca modificação da lamela cornoide.
This study demonstrated the clinical and histologic result of the treatment of one disseminated superficial actinic porokeratosis patient with non-ablative fractional laser. The patient was treated with seven sessions of 1340-nm Nd:YAP laser, with 4 or 5 week-intervals. Biopsies and photographs were performed before and after treatment, which was well tolerated and lead to improvement in the erythema and texture of the lesions. There was a 1-year follow-up. Histopathologic examination after treatment revealed little changes in the cornoid lamella.
Assuntos
Terapêutica , PoroceratoseRESUMO
El Nevo Poroqueratósico del Ostium y el Ducto Dérmico Ecrinos (NPODDE), es un raro hamartoma benigno de los conductos de las glándulas sudoríparas ecrinas, puede presentarse desde el nacimiento o también en edades posteriores. Su etiología plantea una alteración en la queratinización debido a una mutación somática en el gen GJB2 que codifica para una proteína de unión gap. Esta mutación también está relacionada con el síndrome KID por lo cual la asesoría genética es crucial en estos pacientes. Clínicamente puede presentarse como hoyuelos hiperqueratósicos en palmas y plantas que normalmente son asintomáticos. El diagnostico se confirma con la histopato-logía que muestra una laminilla cornoide sobre el conducto ecrino subyacente. La entidad es benigna y de difícil tratamiento siendo refractaria a varias modalidades terapéuticas. Se presenta un caso de un paciente adulto masculino con lesiones típicas en palmas y plantas, a quien con la biopsia de piel se le confirmó el diagnóstico de NPODDE. Dado la baja frecuencia de esta condición el objetivo de este artículo radica en actualizar los aspectos más relevantes de esta entidad.
Porokeratotic Eccrine Ostial and Dermal Duct Nevus (PEODDN) is a rare benign hamartoma of eccrine sweat gland ducts, it can present from birth or also at later ages. Its etiology implies an alteration in keratinization due to a somatic mutation in GJB2 gene, that codes for a gap junction protein. This mutation is also associated with KID syndrome so genetic counseling for parents is crucial. Clinically it can present as keratotic pits in palms and soles that are usually asymp-tomatic. The diagnosis is confirmed by histopathology that shows a cornoid lamellae on the underlying eccrine duct. The entity is benign and the treatment is difficult, being refractory to seve-ral therapeutic modalities. We present a case of a male adult patient with typical lesions on palms and soles, who was diagnosed with PEODDN by skin biopsy. Given the low frequency of this con-dition, the objective of this article is to update the most relevant aspects of this entity.
Assuntos
Humanos , Masculino , Adulto , Dermatopatias/patologia , Poroceratose/patologia , Nevo Intradérmico/patologia , Glândulas Écrinas/patologia , Dermatopatias/diagnóstico , Poroceratose/diagnóstico , Nevo Intradérmico/diagnóstico , HamartomaRESUMO
RESUMEN Se realizó la presentación de dos pacientes con poroqueratosis de Mibelli por ser una dermatosis poco frecuente, por lo que debe ser de interés para los profesionales de diferentes disciplinas, bien por relacionarse con el cáncer de piel o con disímiles enfermedades. Los pacientes estudiados fueron: paciente femenino de 62 años de edad, piel blanca y ocupación ama de casa. Fue remitida por presentar piel con fototipo cutáneo II, una lesión en placa de color amarillento, bordes elevados, hiperqueratósicos, centro atrófico de 1 cm de diámetro; localizada en cara ántero-externa de pierna derecha. El otro paciente, de 59 años, sexo masculino, piel blanca, y ocupación pescador. Solicitó los servicios por presentar piel fototipo cutáneo II lesión en placa de color amarillento, bordes elevados, hiperqueratósicos, centro atrófico de 2cm de diámetro, localizada en cara póstero-externa de antebrazo derecho. Se les realizó biopsia de ambas lesiones. El diagnóstico fue la poroqueratosis de Mibelli para la prevención del cáncer de piel. Ambos pacientes presentaron en común fototipo cutáneo II y otras manifestaciones cutáneas inducidas por la exposición solar. La terapéutica utilizada fue la extirpación quirúrgica, que resultó también el proceder diagnóstico Se orientaron medidas para la prevención del cáncer de piel con bloqueadores solares, y protegerse de los rayos solares con ropa adecuaday otros accesorios (AU).
ABSTRACT Two patients with Mibelli´s porokeratosis were presented because it is a few frequent dermatosis that might be of interest for professionals of different disciplines since it is related to skin cancer and to several other diseases. The first studied patients was 62 years old, female, white, and a housewife, remitted due to presenting skin with cutaneous phototype II, a yellowish lesion in plaque, risen, hyperkeratoid borders and atrophic center of 1 cm diameter, located in the anterior-external face of the right leg. The other patient was 59 years old, male, white, and a fisherman. He assisted the service presenting skin with cutaneous phototype II, a yellowish lesion in plaque, risen, hyperkeratoid borders and atrophic center of 2 cm diameter, located in the posterior-external face of the right forearm. A biopsy of both lesions was carried out. The diagnosis was Mibelli´s porokeratosis. Both patients presented a common cutaneous phototype II and skin manifestations induced by the sun exposition. The used therapeutic was the surgical removal, that also was the diagnosis procedure. Preventing skin cancer with sun blockers was oriented and also wearing adequate clothes and other accessories (AU).
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Dermatopatias , Neoplasias Cutâneas/prevenção & controle , Poroceratose/diagnóstico , Poroceratose/terapia , Fotoquimioterapia , Biópsia/métodos , Carcinoma de Células Escamosas , Educação em Saúde , Educação de Pacientes como Assunto , Fatores de Risco , Fatores de Proteção , Promoção da SaúdeRESUMO
Disseminated superficial actinic porokeratosis (DSAP) is a rare keratinization disorder. It is histopathologically characterized by the presence of coronoid lamellae and clinically by lesions showing central atrophy with elevated borders. Squamous cell carcinoma originating in the classical Mibelli subtype of porokeratosis is well-documented; however, few reports have described squamous cell carcinoma in DSAP lesions. We report the case of a 76-year-old woman with DSAP who developed Bowen's disease, actinic keratosis, and keratoacanthoma on her face.
Assuntos
Idoso , Feminino , Humanos , Atrofia , Doença de Bowen , Carcinoma de Células Escamosas , Ceratoacantoma , Ceratose Actínica , Poroceratose , PeleRESUMO
The rate of malignant transformation in porokeratosis (PK) lesions is approximately 7.5%, and linear PK demonstrates the highest rate of malignancy. An 83-year-old woman presented with a rapidly enlarging mass on her left arm. Variably sized erythematous scaly patches were scattered across the left half of her trunk and arm. Additionally, generalized variably sized brownish annular patches with a hyperkeratotic outer ring were observed on her face, trunk and bilateral arms. A skin biopsy was performed on 3 lesions-a yellowish to erythematous appearing mass, an erythematous scaly patch, and a brownish annular patch. Histopathological evaluation of these 3 lesions revealed squamous cell carcinoma, actinic keratosis, and PK, respectively. The final diagnosis was disseminated superficial PK with linear PK on the left side of the body, and actinic keratosis and squamous cell carcinoma confined to the linear PK lesions. We report a case which represents the progressive and stepwise malignant transformation of PK into squamous cell carcinoma.
Assuntos
Idoso de 80 Anos ou mais , Feminino , Humanos , Braço , Biópsia , Carcinoma de Células Escamosas , Diagnóstico , Ceratose Actínica , Poroceratose , PeleRESUMO
Porokeratosis is a rare epidermal disorder characterized by annular or linear hyperkeratotic plaques with slightly raised thread-like borders, and in most cases, atrophic centers. Disseminated superficial porokeratosis and disseminated superficial actinic porokeratosis (DSAP), which primarily involve sun-exposed areas, are common types of porokeratoses. Histologically, a column of parakeratotic cells, a so-called cornoid lamella, is a hallmark of porokeratosis. Porokeratosis is considered to result from the inability to eliminate an abnormal keratinocyte clone induced by genetic factors and various stimuli, including sunlight, artificial ultraviolet light, viral infections, immunosuppressive conditions (hematologic malignancies, organ transplants, or autoimmune disease), and immunosuppressive therapies. Here, we report a 59-year-old Korean woman with DSAP that developed after narrowband ultraviolet B (NB-UVB) therapy for psoriasis. Our case emphasizes the occurrence of DSAP due to NB-UVB that is able to induce local immunosuppression at the irradiated site; the pathogenesis of DSAP remains unclear.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Células Clonais , Terapia de Imunossupressão , Queratinócitos , Fototerapia , Poroceratose , Psoríase , Luz Solar , Transplantes , Raios Ultravioleta , Terapia UltravioletaRESUMO
Abstract: Porokeratotic eccrine and hair follicle nevus is a very rare non-hereditary disorder of keratinization with eccrine and hair follicle involvement with only 9 cases described in the literature. In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. Herein we report 2 cases of porokeratotic eccrine and hair follicle nevus and review the existing cases in the Spanish and English literature.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Adulto , Doenças das Glândulas Sudoríparas/patologia , Poroceratose/patologia , Folículo Piloso/patologia , Glândulas Écrinas/patologia , Hamartoma/patologia , Nevo/patologia , Paraceratose/patologia , Biópsia , Doenças Raras , Doenças do Cabelo/patologiaRESUMO
<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of 9 ethnic Han Chinese patients with disseminated superfacial actinic porokeratosis (DSAP).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples collected from the patients. PCR and direct sequencing were carried out for five patients from a family, 4 sporadic cases, and 120 healthy controls to identify potential mutations of four genes (MVK, MVD, PMVK, FDPS) involved in the mevalonate pathway as well as SLC17A9, SSH1, and SART3 genes. Pathogenecity of suspected mutations were assessed with SIFT, and Polyphen-2 scores.</p><p><b>RESULTS</b>A c.746T>C mutation was identified in the family and two sporadic cases, while a c.875A>G mutation was identified in another sporadic case. No mutation was identified in the remainder genes among all patients. Scoring has suggested that the c.746T>C and c.875A>G mutations of the MVD gene are probably pathogenic.</p><p><b>CONCLUSION</b>c.746 T>C and c.875A>G of the MVD gene are most common mutations. Skin rashes of the patients have a strong connection with the sunlight, albeit a significant difference among patients was discovered.</p>
Assuntos
Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos de Casos e Controles , Mutação , Genética , Linhagem , Poroceratose , GenéticaRESUMO
Secondary cutaneous amyloidosis refers to clinically unapparent amyloid deposits within the skin in association with a pre-existing skin condition or skin tumors, such as basal cell carcinoma, porokeratosis, solar elastosis, Bowen's disease, and mycosis fungoides. A 70-year-old woman presented with a 6-month history of asymptomatic multiple yellowish plaques on both legs. She had been diagnosed with mycosis fungoides 7 years ago and was treated with psoralen and ultraviolet A radiation (PUVA) therapy, narrow-band ultraviolet B (UVB) therapy, and acitretin for 5 years. Finally, she reached complete remission of mycosis fungoides. However, new yellowish lesions started to appear 1 year after discontinuing the phototherapy. A physical examination revealed multiple yellowish plaques on both extremities. The plaques were well circumscribed and slightly elevated. All laboratory tests were normal. A biopsy specimen showed multiple nodular deposits of eosinophilic amorphous material in papillary dermis and upper reticular dermis. The deposits represented apple green birefringence on Congo red stain viewed under polarized light. Acellular small nodules in the upper dermis consisted of randomly oriented, non-branching, 6.67~12.7 nm thick amyloid fibrils on electron microscopy. We report an interesting and rare case of secondary cutaneous amyloidosis after narrow-band UVB therapy and PUVA therapy in a patient with mycosis fungoides.
Assuntos
Idoso , Feminino , Humanos , Acitretina , Amiloide , Amiloidose , Biópsia , Birrefringência , Doença de Bowen , Carcinoma Basocelular , Vermelho Congo , Derme , Eosinófilos , Extremidades , Ficusina , Perna (Membro) , Microscopia Eletrônica , Micose Fungoide , Fototerapia , Exame Físico , Placa Amiloide , Poroceratose , Terapia PUVA , Pele , Terapia UltravioletaRESUMO
Secondary cutaneous amyloidosis refers to clinically unapparent amyloid deposits within the skin in association with a pre-existing skin condition or skin tumors, such as basal cell carcinoma, porokeratosis, solar elastosis, Bowen's disease, and mycosis fungoides. A 70-year-old woman presented with a 6-month history of asymptomatic multiple yellowish plaques on both legs. She had been diagnosed with mycosis fungoides 7 years ago and was treated with psoralen and ultraviolet A radiation (PUVA) therapy, narrow-band ultraviolet B (UVB) therapy, and acitretin for 5 years. Finally, she reached complete remission of mycosis fungoides. However, new yellowish lesions started to appear 1 year after discontinuing the phototherapy. A physical examination revealed multiple yellowish plaques on both extremities. The plaques were well circumscribed and slightly elevated. All laboratory tests were normal. A biopsy specimen showed multiple nodular deposits of eosinophilic amorphous material in papillary dermis and upper reticular dermis. The deposits represented apple green birefringence on Congo red stain viewed under polarized light. Acellular small nodules in the upper dermis consisted of randomly oriented, non-branching, 6.67~12.7 nm thick amyloid fibrils on electron microscopy. We report an interesting and rare case of secondary cutaneous amyloidosis after narrow-band UVB therapy and PUVA therapy in a patient with mycosis fungoides.