Poroqueratosis de Mibelli en la edad pediátrica / Porokeratosis of Mibelli in pediatric age

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)

Poroqueratosis de Mibelli / Porokeratosis of Mibelli

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)

Tratamento da poroqueratose actínica superficial disseminada com laser 1340-nm Nd: YAP / Treatment of disseminated superficial actinic porokeratosis with 1,340nm Nd:YAP laser

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.

Nevo poroqueratósico del ostium y el ducto dérmico ecrinos: reporte de caso / Porokeratotic eccrine ostial and dermal duct nevus: case report

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.

Poroqueratosis de Mibelli. Presentación de caso / Mibelli's porokeratosis. Presentation of case

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).

Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature

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.

Porokeratosis ptychotropica

Abstract Porokeratosis is a skin disorder clinically characterized by annular plaques with keratotic borders resembling the Great Wall of China and histopathologically by cornoid lamellae. The disease has several clinical variants. Porokeratosis ptychotropica, which has recently become part of these variants, is quite rare and little known. The entity is characterized by verrucous plaques – which may resemble a psoriasis plaque – that affect the regions of the buttocks, most commonly the gluteal cleft, with or without extremity involvement. Itching is often present. We report a rare case of porokeratosis ptychotropica and highlight its unusual manifestation (single plaque), the first case reported in the Brazilian literature.

Porokeratosis of Mibelli in an HIV-positive patient

Abstract Porokeratosis represents a group of disorders of epidermal keratinization that are characterized by one or more annular plaques surrounded by a histologically distinctive hyperkeratotic ridge-like border called the cornoid lamella. Many studies showed that organ transplantation and immunosuppression were associated in a significant number of cases. Furthermore, an association with squamous cell carcinoma and basal cell carcinoma has been noted in all variants of porokeratosis. The rarity of this disorder and its atypical clinical presentation – a single lesion on the thumb of an HIV-positive male patient – motivated this report.

Porokeratosis simulating Bowen's disease on dermoscopy

Abstract Porokeratosis is a disorder of epidermal keratinization characterized by the presence of annular hyperkeratotic plaques. Its etiopathogenesis is not yet fully understood, but a relationship with immunosuppression has been reported. Dermoscopic examination revealed a classic yellowish-white ring-like structure that resembled “volcanic crater contour” – the so-called cornoid lamella. We describe a case of porokeratosis in a female patient with chronic lymphedema, which was similar to Bowen’s disease due to the many glomerular vessels seen on clinical examination and dermoscopy.

Porokeratosis ptychotropica: a rare manifestation with typical histological exam

Abstract: Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae. The known clinical variants of porokeratosis are: classic porokeratosis of Mibelli, disseminated superficial (actinic) porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata, linear porokeratosis and punctate porokeratosis. In 1995, a seventh form was described as porokeratosis ptychotropica: a verrucous form resembling psoriasis involving the gluteal cleft presenting on the histological exam multiple cornoid lamellae. There are very few reports in the literature of this clinical variant. The present study describes the case of a healthy male presenting gluteal hyperkeratotic plaques for 22 years. He had been to several dermatologists, none of them had achieved a definitive diagnosis. We present a typical clinical presentation and its dermoscopy findings, in addition to histological examination that confirmed the diagnosis.

Porokeratosis ptychotropica of the scrotum: dermoscopic evaluation of an atypical presentation

Porokeratosis ptychotropica is a rare variant of porokeratosis that is classically located on the gluteal and perianal regions, seldom extending to the genitalia. The authors report an atypical presentation of porokeratosis ptychotropica and discuss the use of dermoscopy in evaluating this dermatosis. Dermoscopic findings, although not specific to this variant of porokeratosis, are helpful in the differential diagnosis of other genital disorders. Histopathology, through the visualization of multiple cornoid lamellae, prevails as the gold standard for the definite diagnosis of porokeratosis ptychotropica.

Poroqueratosis genitoglútea: una rara enfermedad habitualmente mal diagnosticada / Genitogluteal porokeratosis: a rare disease often misdiagnosed

Las poroqueratosis constituyen un grupo hererogéneo de trastornos de la queratinización caracterizados por placas anulares de borde elevado queratósico con histopatología que muestra lamelas cornoides. La poroqueratosis genitoglútea (PPG) es una rara variedad, con lesiones inflamatorias, eritematosas, con variable descamación, que suelen confurndirse con enfermedades venéreas, especialmente las provocadas por HPV. Se presenta un paciente con más de 20 años de evolución de la enfermedad, sin diagnóstico previo de la misma, tratado como enfermedad infecciosa...

Three-dimensional aspects of superficial disseminated porokeratosis with scanning electron microscopy

The three-dimensional findings of the surface and from a cross section from a case of disseminated superficial porokeratois using scanning electron microscopy are reported. On the surface of the skin, irregular keratin with a serpiginous distribution was seen. A gross aspect of keratin in the hyperkeratotic wall was also observed and compared to the normal area, in which the release of corneocytes seemed normal. The cross-sectional imaging easily identified the cornoid lamella, with compact keratin surrounded by normal stratum corneum.

Poroqueratosis genital: reporte de caso y revisi¢n de la literatura / Genital porokeratosis: case report and review of the literature

La poroqueratosis es un grupo de dermatosis raras que se producen debido a un trastorno del proceso de queratinizaci¢n. Hay diferentes formas cl¡nicas, pero caracter¡sticamente se presenta como p pulas delimitadas con centro ligeramente atr¢fico y borde elevado hiperquerat¢sico, pueden causar prurito. En la histopatolog¡a se puede observar las lamelas carnoides y la hipogranulosis como caracter¡sticas importantes. Se presenta el caso de un paciente var¢n de 32 a¤os de edad con lesiones en la regi¢n genital una localizaci¢n rara para esta enfermedad pero con cl¡nica e histopatolog¡a t¡picas, que fue tratado con crioterapia.

The porokeratosis is a rare dermatosis occurring due to a disorder of keratinization process. There are different clinical forms, but characteristically arises as papules delimited with center slightly atrophic and edge high hyperkeratotic, which can cause itching. The histopathology, you can see the lamellae carnoides and the hipogranulosis as important features. A case of a 32-year-old male patient is presented with lesions in the genital region, a rare location for this disease but with typical clinical and histopathology, which was treated with cryotherapy.

Porokeratosis of Mibelli - literature review and a case report / Poroqueratose de Mibelli - revisao da literatura e relato de um caso

Porokeratosis is a disorder of epidermal keratinization characterized by annular plaques with an atrophic center and hyperkeratotic edges, and includes a heterogeneous group of disorders that are mostly inherited in an autosomal dominant form. This report describes a 5 year-old female patient, with porokeratosis of Mibelli confirmed histopathologically. The rarity of this disorder, its clinical exuberance and the destructive character of the lesions, as well as the facial and mucosal involvements, unusual in this form of porokeratosis, and also its onset in early childhood motivated this report.

A poroqueratose é uma desordem da queratinização epidérmica caracterizada por placas anulares com centro atrófico e bordas hiperqueratóticas, e inclui um grupo heterogêneo de desordens que são na sua maioria herdadas de forma autossômica dominante. O presente caso refere-se a uma paciente feminina de 5 anos de idade, com poroqueratose de Mibelli confirmada histologicamente. A raridade desta desordem, a exuberância clínica e o caráter destrutivo das lesões, o acometimento facial e mucoso pouco usuais nesta forma de poroqueratose e o início na infância precoce motivaram este relato.

Unilateral punctate porokeratosis - Case report / Poroceratose punctata unilateral - Relato de caso

This case report involves a 20-year-old man with unilateral punctate porokeratosis. The patient presented an 8-year history of numerous asymptomatic keratotic papules and pits with linear distribution on his left pal-mar surface and fifth finger of the left hand. Histopathological examination of the keratotic plug revealed findings of distinct epidermal depressions containing cornoid lamellae. This report review draws attention to differential diagnoses of punctate porokeratosis.

Relata-se o caso de um homem de 20 anos de idade com poroceratose punctata, caracterizada por múltiplas pápulas queratósicas e depressões, com disposição linear localizada à região palmar da mão e 5º dedo esquerdos, com cerca de 8 anos de evolução. O estudo histológico mostrou presença de depressão da epiderme, preenchida por característica lamela cornóide. Foi realizada revisão da literatura e ressaltado o seu diagnóstico diferencial.

Genitogluteal porokeratosis - Case report / Poroqueratose genitoglútea - Relato de caso

We report the case of a patient diagnosed with genitogluteal porokeratosis, a disorder of epidermal keratinization. The location described is extremely rare and very often late diagnosed or even misdiagnosed. Histopathology showed a typical cornoid lamella of great value to support this diagnosis. The importance of awareness of this entity by the specialist is emphasized as a differential diagnosis among genital diseases of chronic evolution and difficult treatment.

Relata-se o caso de um paciente com diagnóstico de poroqueratose genitoglútea, uma desordem da queratinização epidérmica, cuja localização exclusiva é extremamente rara, sendo muitas vezes tardia ou erroneamente diagnosticada. A histopatologia demonstra a clássica lamela cornóide, de grande valia para elucidação diagnóstica. Ressalta-se a importância do conhecimento desta entidade pelo especialista como diagnóstico diferencial entre as afecções genitais de evolução arrastada e de difícil tratamento.