Facial and bilateral acral porokeratosis with nail dystrophy: A case report

Porokeratosis is a rare disorder of keratinization with unknown etiology. It exhibits both sporadic and autosomal dominant inheritance. The lesions are sharply demarcated, hyperkeratotic, and annular with distinct keratotic edges. The cornoid lamella is the histological hallmark of porokeratosis. Porokeratosis lesions on the face may have a superficial or a destructive nature. To our knowledge there are only a few cases of facial porokeratosis that have been reported. We report a sporadic form of facial and bilateral acral porokeratosis with nail dystrophy.     

Porokeratosis of Mibelli following bone marrow transplantation

BACKGROUND: Porokeratosis is a rare disorder of keratinization with both autosomal dominant and acquired forms. Immunosuppression has been associated with the development of porokeratosis in numerous case reports and series. To our knowledge, however, only five cases of porokeratosis have been reported following bone marrow transplantation. RESULTS: We report five cases of porokeratosis of Mibelli following bone marrow transplantation. The diagnosis of porokeratosis was made between 1 and 13 years post-transplantation. The underlying malignancy in four of the five cases was leukemia, while the fifth patient had non-Hodgkin's lymphoma. Porokeratosis developed during remission in the four leukemia patients, whereas, in the fifth patient, it occurred during a relapse of lymphoma. CONCLUSIONS: Porokeratosis may develop following bone marrow transplantation. Our five cases double the number reported in the medical literature, and the incidence of porokeratosis following bone marrow transplantation may be significantly higher than previously recognized. As cutaneous carcinomas have been reported in association with porokeratosis, careful surveillance for porokeratosis in bone marrow transplant recipients is warranted.     

Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts,West Bengal,India

Porokeratosis of Mibelli (PM) is a rare genodermatosis. It is caused by proliferation of abnormal clones of epidermal cells in response to several stimuli, the most important of which is sunlight. Giant porokeratosis is thought to be a variant of PM. We report two cases of disseminated PM and one case of disseminated giant porokeratosis from the Bankura and Bardhaman districts of West Bengal in India; presenting to a single observer in the summer of 2012. Interestingly we have noted that the majority of cases of porokeratosis in India have been reported from West Bengal. Few patients with a single lesion of giant porokeratosis have been reported in world literature. As far as we know, this is the first case report of disseminated giant porokeratosis in world literature.     

Porokeratosis plantaris discreta

Sire the basis for this study. All cases were clinically diagnosed as porokeratosis plantaris discreta (PPD). Biopsies were done in fifteen cases. Of these, eleven were confirmed as PPD and four had histopathologic features of a wart. Porokeratosis plantaris dicreta is a localized plantar hyperkeratosis that is resistant to therapy. It is often mistaken for a wart. PPD should be considered in the differential diagnosis of keratotic lesions on the sole.     

Punctate Porokeratosis Palmaris et Plantaris

Porokeratosis, a keratinization disorder, is probably a group of unrelated conditions with same distinctive histological appearance, featuring cornoid lamellae. A case of punctate porkeratosis in a 24 year old male patient is reported for its rarity.     

Porokeratosis of Mibelli: successful treatment with cryosurgery

Porokeratosis of Mibelli, a disorder of keratinization, should be treated because of the possibility of development of malignant epithelial tumors on the porokeratotic lesions. Liquid nitrogen cryosurgery is considered to be particularly useful in the treatment of precancerous and benign skin lesions. We aimed to evaluate the efficiency of this method in the treatment of porokeratosis of Mibelli. Eight patients with 20 porokeratotic lesions were treated with spray cryosurgery. Each lesion was frozen for 30 seconds with a spray tip after the keratotic borders were removed conically by sharp dissection. Eighteen of the 20 lesions were healed successfully with slight atrophy in one session. One more session was necessary for the other two lesions. Liquid nitrogen cryosurgery may be considered superior to other destructive methods in the treatment of porokeratosis of Mibelli, with advantages such as simplicity, high cure rates, low cost, short treatment period, and few complications.     

Case for diagnosis

Porokeratosis is a primary keratinizing disorder of unknown etiology. This disorder is characterized by the presence of centrifugally enlarging hyperkeratotic plaques, associated with the histopathological hallmark of cornoid lamellae. Genital porokeratosis is extremely rare. No more than thirty cases have been reported in the literature, including only one case of linear porokeratosis confined to the genital area. This case report describes a patient with genital linear porokeratosis, who was successfully treated with cryotherapy. Over two years of follow-up, the lesion improved and there was no evidence of recurrence or signs of malignant transformation. Nevertheless, there is a need for long-term follow-up data on recurrence and malignant transformation.     

Immunosuppression-induced porokeratosis of Mibelli: complete regression of lesions upon cessation of immunosuppressive therapy

Porokeratosis developing subsequent to immunosuppressive therapy is a common and well recognized phenomenon. A previously reported case of porokeratosis showed complete remission of the lesions following discontinuation of immunosuppression. A second example of porokeratosis is presented, in which lesions appeared 2 years after bone marrow transplantation, and completely regressed after immunosuppressive therapy was stopped.     

New diagnostic methods in dermatopathology: in vivo reflectance confocal microscopy

Reflectance confocal microscopy is a new non‐invasive imaging technique which enables the visualization of upper skin layers in‐vivo at quasi‐histological resolution. Skin changes seen in confocal microscopy in Porokeratosis Mibelli and scabies infection are described in the following two cases.     

Imiquimod and Photodynamic Therapy Are Useful in the Treatment of Porokeratosis in Children with Bone Marrow Transplantation

Porokeratosis is an uncommon disorder that affects keratinization. Immunosuppression may favor the development of porokeratotic lesions. Patients who receive allogenic transplants represent a therapeutic challenge to dermatologists. We report two cases of porokeratosis in children with bone marrow transplant and their excellent response to imiquimod and photodynamic therapy.     

Disseminated superficial porokeratosis and pyoderma gangrenosum

Disseminated Superficial Actinic Porokeratosis (DSAP) is usually triggered by sun exposure. In some cases sun exposure is not essential and this skin disease is related to immunosuppression. Many associated diseases are described in the literature. We report a clinical case of a patient affected by pyoderma gangrenosum, who developed DSAP.     

A case of porokeratosis plantaris palmaris et disseminata and literature review

Porokeratosis plantaris palmaris et disseminata (PPPD) is a quite rare variant of porokeratosis. We report a 56-year-old male patient. He first noted brownish, asymptomatic, annular macules scattered on the trunk and extremities at about age 31 and these skin lesions, continued to increase in number. Ten years prior to presentation, similar lesions appeared on the palms. About one to two years ago, the patient noted painful wart-like, keratotic punctuate papules 2-3 mm in diameter on the soles, which disturbed walking. Histological examination showed the characteristic feature of the cornoid lamella. The family tree of this patient showed an autosomal dominant mode of transmission. We review sixteen typical cases of PPPD previously reported in the English literature.     

Porokeratosis in Singapore: an Asian perspective

Porokeratosis is a rare disorder of skin keratinisation characterised by a cornoid lamella. We reviewed its associations with immunosuppression and phototherapy, as well as the risks of malignant progression. This is a retrospective review on all cases of porokeratosis seen at the National Skin Centre, Singapore, between 2000 and 2010. A total of 94 patients were reviewed. Clinical and histological diagnoses were confirmed in 63% patients. Most patients were Chinese (89%) with a mean age of 51.6 years. The male to female ratio was 1.4:1. The four main clinical variants were classical porokeratosis of Mibelli (56%), disseminated superficial actinic porokeratosis (DSAP) (18%), disseminated superficial porokeratosis (DSP) (11%), and linear porokeratosis (13%). Phototherapy-induced porokeratosis, seen in three patients, is rare. Seven cases of porokeratosis occurred in patients who were immunosuppressed. Progression of porokeratosis to malignancy is uncommon and was observed in three patients. The most common treatments included cryotherapy (26.5%) as well as topical steroids or retinoids (38.1%). A good response, defined as clear or almost clear lesions, occurred in 16% patients. The most common presentation of porokeratosis in our review was a middle-aged male patient with an asymptomatic lesion of porokeratosis of Mibelli over the extremities. No particular immunosuppressive drug was implicated. Porokeratosis associated with ultraviolet phototherapy or malignancy is rare. Progression of porokeratosis to malignancy arose in the disseminated variants, with a possible correlation with age. This is the largest institutional retrospective review of porokeratosis to date and highlights the major epidemiological characteristics of this condition.     

Pediatric penile porokeratosis: A case report

We present what we believe to be the second case of pediatric penile porokeratosis and the youngest case reported. A 6‐year‐old boy presented with a pruritic, verrucous growth at the urethral meatus that recurred after two meatotomies. The diagnosis of porokeratosis was confirmed by biopsy. Porokeratosis should be added to the differential diagnosis of chronic hyperkeratotic penile lesions in children.     

汗孔角化症的临床表型及基因型研究进展

汗孔角化症是较少见的慢性遗传性皮肤病，依据临床表现的不同，可分为6种经典类型及多种新类型。家系遗传性汗孔角化症较散发病例更为常见。目前本病的研究热点为甲羟戊酸代谢通路相关基因的突变。本文就汗孔角化症的临床分型、遗传学研究进展进行了综述。     

POROKERATOSIS IN IMMUNOSUPPRESSED AND NONIMMUNOSUPPRESSED PATIENTS

Porokeratosis is an uncommon, inherited, autosomally dominant disorder. In the last decade association of porokeratosis and immunosuppression has been observed. In this study we carried out a comparative study between immunosuppressed and nonimmunosuppressed porokeratosis cases. We found that 9 out of 20 cases of porokeratosis were associated with organ transplantation/immunosuppression. Clinicopathologic study revealed that the pattern of disease is alike both in immunosuppressed and nonimmunosuppressed patients. Our observations indicate that immune modulation could be a factor in the genesis of porokeratosis.     

Facial porokeratosis: A series of six patients

Porokeratosis is a disorder of epidermal keratinization characterized by annular plaques with an atrophic centre and hyperkeratotic edges, and includes a heterogeneous group of disorders that are mostly inherited in an autosomal dominant fashion. Facial porokeratosis is rare and is not well documented. We present six cases of facial porokeratosis seen over a period of 15 years in a hospital in Lima, Peru. In most of the cases, porokeratosis was found in younger women without any significant past medical history. Oral isotretinoin showed moderate improvement in two of our patients.     

Focal porokeratosis of nuchae: case report

Porokeratosis is the common name of several diseases of unknown pathogenesis, which are similar in clinical appearance. It was first described in 1893 and was thought to be a disorder of sweat glands, hence the name porokeratosis. The lesion that can be found in all cases is annular, with atrophic center, and hyperkeratotic outer ring. Cases of porokeratosis have been linked with genetic heritage, excessive ultraviolet exposure, kidney failure, and state of immunosuppression, but no definitive link has been established. As a rare condition, its main feature is that the correct diagnosis can be delayed for a significant period of time. Porokeratotic lesions have a high incidence of malignant transformation and are considered premalignant. We present a case where a porokeratotic lesion was unsuccessfully treated as a psoriatic lesion for more than a year in a patient with previously diagnosed psoriasis. A skin biopsy was performed at our department, which revealed classic cornoid lamella and thus led to the correct diagnosis. The lesion was excised. Additional diagnostic tests revealed normal kidney function and intact immune system. A follow-up protocol was established for the patient, ensuring timely diagnosis of any future porokeratotic lesions. Porokeratosis, especially when there are only few lesions, is not difficult to manage - once it is diagnosed. A diagnosis of porokeratosis may also aid in identifying a serious systemic disease such as kidney failure. Importantly, a misdiagnosis of porokeratosis may lead to development of skin cancer.     

Porokeratosis of Mibelli of the axillae: treatment with topical imiquimod

Porokeratosis of Mibelli is a rare genodermatosis characterized by a disorder of keratinization. None of the currently available therapies is effective in all cases and this situation exposes the patient to multiple treatment cycles. We describe the successful use of topical imiquimod 5% cream in the management of porokeratosis of Mibelli of the axillae in a 12-year-old girl. Treatment with imiquimod was effective, probably due to the area of application, where large hydrated skin folds are found, which helps penetration of the drug on the stratum corneum.