"Linear porokeratosis"

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date. To identify genetic mutations associated with linear porokeratosis. Paired whole-exome sequencing of affected skin and blood/saliva samples from 3 participants from 3 academic medical centers with clinical and histologic diagnoses of linear porokeratosis. Whole-exome sequencing of paired

Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. Porokeratosis is a clonal epidermal disorder of keratinization characterized by annular lesions with an atrophic centre and a hyperkeratotic edge. The cornoid lamella is the histopathological hallmark. Six clinical variants are recognized: porokeratosis of Mibelli; disseminated superficial porokeratosis; disseminated superficial actinic porokeratosis (DSAP); porokeratosis plantaris et palmaris disseminata; punctate porokeratosis and linear porokeratosis. Linear porokeratosis is the type most frequently associated with malignant transformation into squamous cell carcinoma (SCC). It is thought to represent a mosaic form of DSAP and has an incidence of less than 1 in 200 000; treatment options

Photoletter to the editor: Response of linear porokeratosis to photodynamic therapy in an 11-year-old girl Porokeratoses are a group of different entities that belong to the skin keratinization disorders. From the histological point of view the main and common characteristic of these disorders is the presence of compact parakeratotic columns known as cornoid lamellae. All varieties should be carefully treated and followed-up because of the risk of developing malignant epithelial tumors. We report the successful response to photodynamic therapy (PDT) in a pediatric patient diagnosed with linear porokeratosis.

Coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis. The coexistence of two or more forms of porokeratosis in a single individual is rarely reported. We report here on a patient exhibiting the coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis. To our knowledge, this entity has been previously reported only once.

Altered gene expression in squamous cell carcinoma arising from congenital unilateral linear porokeratosis. Congenital unilateral linear porokeratosis (CULP) is a rare disorder of keratinization that shares clinical and molecular similarities with psoriasis. It also has an increased risk for malignant transformation to cutaneous squamous cell carcinoma (SCC). We investigated the expression

mosaicism in human disease; however, the study of mosaic disorders has recently revealed unexpected and novel pathways for disease pathogenesis. In this paper, we will review the techniques for discovery of disease-causing alleles using Proteus syndrome; phakomatosis pigmentokeratotica; linear porokeratosis; and vacuoles, E1 enzyme, X-linked, autoinflammatory somatic syndrome as models. These tools

Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes. Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK. Here, we showed that each skin lesion of DSAP

toxic metabolites could alleviate porokeratosis. To study the efficacy of topical cholesterol/lovastatin in different variants of porokeratosis. We enrolled a series of 5 porokeratosis patients,1 with disseminated superficial actinic porokeratosis, 2 with porokeratosis palmaris et plantaris disseminata, and 2 with linear porokeratosis. Patients were genotyped before initiation of therapy. Patients porokeratosis lesions after 4 weeks of therapy and moderate improvement of porokeratosis palmaris et plantaris disseminata lesions and linear porokeratosis lesions. There were no adverse events. Case series design with a small number of patients. Topical cholesterol/lovastatin is an effective and well-tolerated therapy for porokeratosis that underscores the utility of a pathogenesis-based therapy

for inclusion. The cancer of the skin typically presents as round lesions. However, basal cell carcinoma and squamous cell carcinoma may arise from primary skin conditions or benign skin neoplasms such as linear epidermal nevus and linear porokeratosis. In addition, linear tumors such as basal cell carcinoma can occur. The development of linear cutaneous neoplasms may occur secondary to skin tension line

forms of porokeratosis are as follows: * * Classic porokeratosis of Mibelli (PM) [2] * * Disseminated superficial actinic porokeratosis (DSAP) and its nonactinic variant disseminated superficial porokeratosis (DSP) * * Linear porokeratosis * * Porokeratosis palmaris et plantaris disseminata (PPPD) * * Punctate porokeratosis, which might represent a variant of PPPD [3] A patient may disseminata (PPPD). [13, 14, 15, 16, 17, 18, 19] The focal variants of porokeratosis (porokeratosis of Mibelli [PM] and linear porokeratosis) may occur through mosaicism, in which somatic mutations cause focal loss of heterozygosity. [20] Genetic mutations in the SART3 and MVK genes have been found in DSAP pedigrees. [21] DSAP has been shown to originate from a postnatal keratinocyte clone with a different

to be effective after 3-6 months of treatment of disseminated superficial actinic porokeratosis (DSAP). [75, 76, 77] ImmunomodulatorsTopical imiquimod cream has been shown to be effective for treating classic porokeratosis of Mibelli (PM). [78, 79] Ingenol mebutate has shown efficacy in the treatment of PM. [80] Calcineurin inhibitorsTacrolimus (0.1%) was shown to be effective for treating linear porokeratosis of 75 mg/d for 1 week followed by 50 mg/d was shown to be helpful in linear porokeratosis and symptomatic PM. Higher doses of 1 mg/kg/d were reported to exacerbate lesions of DSAP after 4-6 weeks of treatment. [83] Even when etretinate therapy is successful, relapses may occur. Digitate keratoses were reported to develop after the use of etretinate for DSAP. [84] Acitretin, a second-generation

to be effective after 3-6 months of treatment of disseminated superficial actinic porokeratosis (DSAP). [75, 76, 77] ImmunomodulatorsTopical imiquimod cream has been shown to be effective for treating classic porokeratosis of Mibelli (PM). [78, 79] Ingenol mebutate has shown efficacy in the treatment of PM. [80] Calcineurin inhibitorsTacrolimus (0.1%) was shown to be effective for treating linear porokeratosis of 75 mg/d for 1 week followed by 50 mg/d was shown to be helpful in linear porokeratosis and symptomatic PM. Higher doses of 1 mg/kg/d were reported to exacerbate lesions of DSAP after 4-6 weeks of treatment. [83] Even when etretinate therapy is successful, relapses may occur. Digitate keratoses were reported to develop after the use of etretinate for DSAP. [84] Acitretin, a second-generation

forms of porokeratosis are as follows: * * Classic porokeratosis of Mibelli (PM) [2] * * Disseminated superficial actinic porokeratosis (DSAP) and its nonactinic variant disseminated superficial porokeratosis (DSP) * * Linear porokeratosis * * Porokeratosis palmaris et plantaris disseminata (PPPD) * * Punctate porokeratosis, which might represent a variant of PPPD [3] A patient may disseminata (PPPD). [13, 14, 15, 16, 17, 18, 19] The focal variants of porokeratosis (porokeratosis of Mibelli [PM] and linear porokeratosis) may occur through mosaicism, in which somatic mutations cause focal loss of heterozygosity. [20] Genetic mutations in the SART3 and MVK genes have been found in DSAP pedigrees. [21] DSAP has been shown to originate from a postnatal keratinocyte clone with a different

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

Multiple squamous cell carcinomas complicating linear porokeratosis. Linear porokeratosis is a distinctive variant of porokeratosis with malignant transformation, a known but infrequently reported complication. We report a case of linear porokeratosis on the right leg of a 57-year-old man present since infancy that, over a 2-year period, developed two squamous cell carcinomas within the lesion

Generalized linear porokeratosis. A 23-year-old woman was seen for widespread skin lesions present since the age of 2.5 years. Twenty years ago, she developed a brown macular lesion on her right buttock. The lesion became hyperkeratotic and subsequently spread through the posterior aspect of her right leg. It later spread to the right side of the trunk and to the right arm. When she was 9 years , and hydropic degeneration within the basal cell layer was seen. In the dermis, a nonspecific, mild, chronic, inflammatory cell infiltrate, telangiectatic vessels, and pigment-laden macrophages were present. These findings were consistent with linear porokeratosis (Fig. 3). Microscopic examinations and mycologic cultures of the nails were negative. We decided to treat our case systemically with retinoids

Giant porokeratosis. Porokeratosis is a disorder of keratinization characterized by annular plaques with an atrophic center surrounded by a raised, keratotic wall. It has several clinical forms including a porokeratosis of Mibelli, giant porokeratosis, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis and punctate porokeratosis. We report a patient

Congenital facial linear porokeratosis. We report a unique case of congenital linear porokeratosis with exclusive facial involvement in a 27-year-old Chinese man. No other family member was affected. To our knowledge, this is the first report in the English literature of congenital linear porokeratosis confined to the face.

-type allele. Here, this genetic concept is applied to an unusual case of plaque-type porokeratosis of Mibelli (PM) as published in 1893 by Vittorio Mibelli in the International Atlas of Rare Skin Diseases. The right forearm and hand of the 21-year-old patient showed a pronounced linear porokeratosis that had developed since the age of 2 years. Moreover, nonsegmental lesions of PM involved both hands