Porokeratosis: An enigma beginning to unravel

Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to current therapeutic options. Until now, it was considered to be a clonal disorder with immunity, ultra violet radiation and other factors playing important roles in etiopathogenesis. It is now known that abnormalities in the mevalonate pathway are responsible for this clonal keratinization abnormality. New variants of porokeratosis like eruptive bullous, pruriginous, lichen planus like, follicular variants and porokeratoma have been described. While the cornoid lamella is the classical histopathologic feature, dermoscopy and reflectance confocal microscopy make the diagnosis clearer. Development of malignancy in a few variants is a concern. Linear, disseminated superficial actinic and giant lesions are most prone to developing malignancies. Bowen’s disease, squamous cell carcinoma, basal cell carcinoma and even melanoma have been reported in cases of long-standing porokeratosis. Newer modalities of therapy such as photodynamic therapy, ingenol mebutate and HMGCoA inhibitors may play a role in the future

Poroqueratosis de localización nasal. Reporte de un caso / Porokeratosis of nasal location. Case report

RESUMEN La poroqueratosis es un trastorno de la queratinización, con herencia autosómica dominante en la mayoría de los casos, vinculada posiblemente a la presencia de un clon mutante de queratinocitos en expansión. Tiene diferentes formas clínicas: de Mibelli, actínica superficial diseminada, lineal, puntiforme, palmoplantar y facial atípica. El diagnóstico se confirma con la histología, presentándose típicamente la laminilla cornoide, que no es patognomónica de esta afección. En el tratamiento de esta patología se utilizan desde agentes tópicos como emolientes, 5-fluorouracilo, calcipotriol, imiquimod y retinoides como terapia sistémica. Otras opciones terapéuticas descritas son extirpación quirúrgica, criocirugía y dermoabrasión cuando se trata de formas localizadas o únicas. Se decide reportar el caso de una paciente femenina con poroqueratosis de afección exclusiva del área nasal por su rara frecuencia y escasos reportes sobre esta forma de presentación en la actualidad.

ABSTRACT Porokeratosis is a disorder of keratinization, with AD inheritance in most cases; possibly linked to the presence of a mutant clone of expanding keratinocytes, in addition to the overexpression of the p53 gene that could be related to an oncogenic potential. This disorder has also been associated with factors such as UVR, immunosuppression cases such as HIV +, liver or kidney failure, transplantation of organs that would act as triggers of this disease. It differs from other pathologies due to the presence of a peripheral hyperkeratotic ring which is usually asymptomatic in half of the patients. Clinically it can occur in different ways: porokeratosis de Mibelli, superficial actinic disseminated, linear, punctate, palmoplantar and atypical facial. Diagnosis is confirmed with histology, with the cornoid lamella typically present, which is not pathognomonic of this condition and consists of a parakeratotic keratinocyte column that extends from an invagination of the epidermis through the stratum corneum. The treatment to choose, will depend on the patient´s age; Size and location of the lesions, the aesthetic implications and the general condition of the affected person. They are used from topics such as emollients, 5-fluorouracil, calcipotriol, imiquimod. Retinoids are found as an option for systemic therapy. Another procedure considers surgical removal, cryosurgery and dermabrasion when dealing with localized or unique forms. We report a case of a 44-year-old female patient who presents with compatible dermatosis porokeratosis, affecting only the nasal area.

Porokeratosis Ptychotropica: A Lesser-known Variant of Porokeratosis / 대한피부과학회지

No abstract available.

Facial Disseminated Superficial Actinic Porokeratosis.

Porokeratosis is a disorder of keratinization and is genetically transmitted. It is characterized by one or more atrophic macules or patches and surrounded by a distinctive hyperkeratotic ridge-like border. Multiple clinical variants of porokeratosis exist. It is histologically characterized by the presence of a cornoid lamella. The cornoid lamella is due to an expanding number of unusual keratinocytes. Here, we present a case report of porokeratosis over the nose in a 22-year-old female.

Poroqueratosis: Revisión / Porokeratosis: A review

La poroqueratosis es un trastorno hereditario de la queratinización, descrita por Mibelli. Se describen mútiples variantes clínicas; todas representadas por una lesión primaria común: la pápula hiperqueratósica. El diagnóstico se confirma con la histopatología, donde se aprecia la laminilla cornoide, el hallazgo más representativo de la dermatosis. La escasa respuesta a la terapéutica, la frecuente recurrencia y su potencial carácter pre-neoplásico, hacen de esta patología un problema complejo para el dermatólogo. El objetivo de este artículo, es reconocer las distintas formas de poroqueratosis, arribar a su diagnostico y orientar un tratamiento.

Porokeratosis is an inherited disorder of keratinization, described by Mibelli. Mutiple clinical variants have been reported, all represented by a common primary lesion: the hyperkeratotic papule. The diagnosis is confirmed by the histopathological study, which shows the cornoid lamella, the most representative finding of these dermatoses. It's a complex pathology due to the poor response to therapy, the frequent recurrence and pre-neoplasic potencial. The goal of this article is the recognition of different porokeratosis forms, and review the issue in order to reach the correct diagnosis and treatment.

Porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare variant of porokeratosis with characteristic histological feature of cornoid lamella involving the acrosyringium. We report a classic case of a 20-year-old male, who clinically presented to us with keratotic papules and plaque with pits, few having comedo like plugs, on right palm and sole since 1 year of age. A punch biopsy from palm was diagnostic as well as confirmatory showing cornoid lamella involving an eccrine duct which is the characteristic histopathological feature of PEODDN.

Nevus Sebaceous Accompanying Secondary Neoplasms and Unique Histopathologic Findings

Nevus sebaceous (NS) is a type of classical nevus or congenital malformation that is often present at birth and commonly involves the scalp or face. The lesion usually presents as a linear, yellow, hairless, and verrucous plaque. It has been well-established that several benign and malignant tumors can develop from the NS; however, there have been no reports about ectopic fat cells in the dermis, and cornoid lamella arising from the NS. We report a case of NS on the scalp with accompanying unusual histopathologic findings.

A Case of Multiple Giant Porokeratosis / 대한피부과학회지

We report a case of an 81 year-old man with multiple, giant porokeratosis, who had variable-sized erythematous, scaly plaques, ranging from 3x4cm to 10x2cm, on his trunk, extremities and genital area. The skin lesions appeared 20 years ago and had increased gradually and slowly, both in size and number. Histologic examination revealed a typical cornoid lamella and loss of the underlying granular layer. Giant porokeratosis was diagnosed on the basis of overwhelming clinical features and characteristic histologic findings. Giant porokeratosis is a rare clinical condition among several subtypes of porokeratosis.

A Case of Porokeratotic Eccrine Ostial and Dermal Duct Nevus

We report a case of porokeratotic eccrine ostial and dermal duct nevus in a 28-year old man. The skin lesions, present since birth, were multiple keratotic papules and punctate pits on the palms, soles and heels bilaterally. Histopathologically, the lesion was characterized by dilatation and hyperplasia of the eccrine sweat ducts with parakeratotic plugs related to sweat gland pores. This entity should be considered the differential diagnosis of other types of porokeratosis and comedo-like keratosis on palms and soles.