Proliferação clonal de queratinócitos anormais caracterizada pelo desenvolvimento de manchas cutâneas atróficas localizadas ou múltiplas, cercadas por um anel ceratótico anular denominado lamela cornóide.
Introdução
O que você precisa saber de cara
Proliferação clonal de queratinócitos anormais caracterizada pelo desenvolvimento de manchas cutâneas atróficas localizadas ou múltiplas, cercadas por um anel ceratótico anular denominado lamela cornóide.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição.
Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites
Cytoplasm, cytosol
Porokeratosis 1, multiple types
A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.
Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP. Uses the membrane potential as the driving force to control ATP accumulation in lysosomes and secretory vesicles (PubMed:18375752, PubMed:23467297). By controlling ATP storage in lysosomes, regulates ATP-dependent proteins of these organelles (PubMed:35269509). Also indirectly regulates the exocytosis of ATP through its import into lysosomes in astrocytes and secretory vesicles such as adrenal chro
Cytoplasmic vesicle, secretory vesicle, chromaffin granule membraneCytoplasmic vesicle, secretory vesicle membraneLysosome membrane
Porokeratosis 8, disseminated superficial actinic type
A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life.
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, PubMed:18302342, PubMed:9325256, PubMed:9392419)
CytoplasmPeroxisome
Mevalonic aciduria
Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product fa
Cytoplasm
Porokeratosis 9, multiple types
A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.
Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis
Cytoplasm
Porokeratosis 7, multiple types
A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.
Variantes genéticas (ClinVar)
297 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 632 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Poroqueratose
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Systematized Linear Porokeratosis With Palmoplantar and Nail Involvement: A Rare Presentation.
Porokeratosis encompasses a group of genetically and clinically heterogenous dermatoses characterized by abnormal epidermal keratinization, with the cornoid lamella being the hallmark histological feature. Linear porokeratosis, a rare variant of porokeratosis, typically manifests early in life, with lesions that follow the lines of Blaschko and carry the highest risk of malignancy transformation. Here, we present a case of systematized linear porokeratosis in a 48-year-old male with childhood onset, notable for the rare co-existence of palmoplantar and nail involvement. This report emphasizes the importance of long-term surveillance in patients with linear porokeratosis due to its malignant potential.
Successful Treatment of Linear Porokeratosis with Ivarmacitinib in an Adolescent: A Case Report.
Porokeratosis is a rare cutaneous disorder of keratinization, and its linear variant typically follows the lines of Blaschko. We report a case of a 15-year-old female patient with a 3-year history of a linear eruption on her right waist and thigh, accompanied by severe pruritus. Previous interventions, including topical corticosteroids, antihistamines, and oral prednisone, had failed to produce clinical improvement. The diagnosis of linear porokeratosis was confirmed after histopathological examination revealed the characteristic cornoid lamella. The patient was prescribed ivarmacitinib at a dose of 4 mg once daily. At the 3-month follow-up, the patient reported a significant reduction in pruritus, and clinical examination showed marked flattening of the papules, with no adverse events reported. Ivarmacitinib is a highly selective JAK1 inhibitor, and JAK1 plays a crucial role in the pathogenesis of inflammatory diseases. Ivarmacitinib was successfully utilized for the first time in the treatment of an adolescent patient with linear porokeratosis. Although the precise mechanism by which ivarmacitinib addresses linear porokeratosis has yet to be definitively elucidated, this case provides clinicians with a novel perspective and an additional option regarding pharmacological selection and therapeutic strategies.
New Eruption of Bullous Pemphigoid Within Disseminated Superficial Porokeratosis Lesions: A Rare Case Report.
In 2024, a 75-year-old Chinese man presented with a complex dermatological case involving features of both disseminated superficial porokeratosis (DSP) and bullous pemphigoid (BP). The patient exhibited a long-standing history of pruritic annular brownish plaques with hyperkeratotic borders, alongside recent blistering eruptions on his hands, feet and trunk. Diagnostic investigations revealed distinct histopathological and immunological markers characteristic of both conditions. Treatment with intravenous methylprednisolone, topical corticosteroids and tretinoin cream led to rapid improvement of BP lesions but also DSP plaques, culminating in complete resolution without new eruptions during corticosteroid tapering. Dermoscopic examination unveiled unique features, including the 'double-track sign', dilated capillaries and a central yellowish translucent area with haemorrhagic crusts, underscoring the diagnostic utility of dermoscopy in elucidating this rare co-presentation. This case highlights the diagnostic challenges and therapeutic considerations in managing concurrent DSP and BP, shedding light on potential exacerbating factors and treatment outcomes deserving further exploration in dermatological research.
Disseminated superficial porokeratosis with dermal amyloid deposits: A case report and review of the literature.
Disseminated superficial porokeratosis with dermal amyloid deposits is exceptionally rare, with only 12 documented cases worldwide. The pathogenesis involves keratinocyte degeneration, resulting in amyloid deposition. A 76-year-old Chinese male presented with a 10-year history of multiple annular brown pruritic macules on the extremities and trunk, along with dense pruritic papules on the bilateral anterior tibial regions. Histopathological examination revealed cornoid lamella, dyskeratotic cells, and dermal amyloid deposits. Treatment with topical corticosteroids, 3% boric acid, and oral acitretin improved pruritus and pigmentation over 4 months; however, lesions recurred after discontinuation. Concomitant hyperuricemia (523 μmol/L) suggests a potential novel role of purine metabolism in amyloidogenesis, an association that has not been previously reported.
Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.
Porokeratosis (PK) is an autosomal dominant inherited disorder characterized by abnormal epidermal keratinization, primarily resulting from mutations in four genes associated with the mevalonate pathway: mevalonate decarboxylase (MVD), mevalonate kinase (MVK), phosphomevalonate kinase (PMVK), and farnesyl diphosphate synthase (FDPS). The purpose of this study was to identify the causative mutations in seven sporadic cases of PK. Clinical data and blood samples were collected from these seven sporadic cases. To identify pathogenic gene mutations in the patients, both whole-exome and Sanger sequencing were conducted. Bioinformatics resources such as PROVEAN, SIFT, PolyPhen-2, and Mutation Taster were employed to assess the pathogenicity of the identified mutations. This study included seven sporadic cases of PK, comprising two cases of disseminated superficial actinic porokeratosis (DSAP), and five cases of disseminated superficial porokeratosis (DSP). We identified a total of five heterozygous mutations, including two novel MVD mutations (c.1122 + 1G > A, c.576G > T), one novel FDPS mutation (c.986A > C), and two MVD mutations that have been reported previously (c.1A > G and c.746 T > C). In conjunction with our previous study, we identified a total of six patients with the MVD c.746 T > C mutation from Jiangxi province, China, representing 50% of the total MVD mutation cases (12 in total). This research has expanded the database of mevalonate pathway genes associated with PK, thereby improving our comprehension of the fundamental mechanisms involved.
Publicações recentes
Solitary Porokeratoma on the Foot: A Case Report and Literature Review.
Localized nasal porokeratosis successfully treated with 5-fluorouracil and calcipotriene.
🥉 Relato de casoUltraviolet-Induced Fluorescence Dermatoscopy (UVFD) features in Porokeratosis: Findings from a Multicenter Retrospective Study.
Successful Treatment of Localized Eruptive Pruritic Papular Porokeratosis with A Single Session of Cryotherapy: A Case Report.
Porokeratosis ptychotropica.
📚 EuropePMC1.202 artigos no totalmostrando 197
Systematized Linear Porokeratosis With Palmoplantar and Nail Involvement: A Rare Presentation.
CureusSuccessful Treatment of Linear Porokeratosis with Ivarmacitinib in an Adolescent: A Case Report.
Clinical, cosmetic and investigational dermatologyA Case of Porokeratosis Ptychotropica Treated with Cryotherapy.
Acta dermatovenerologica Croatica : ADCA 12-year expanding pink plaque on the chest.
JAAD case reportsNew Eruption of Bullous Pemphigoid Within Disseminated Superficial Porokeratosis Lesions: A Rare Case Report.
The Australasian journal of dermatologyDisseminated superficial porokeratosis with dermal amyloid deposits: A case report and review of the literature.
The Journal of international medical researchExploring MPM-FLIM for diagnostics of porokeratosis - a pilot study ex vivo.
Biomedical optics expressIdentification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.
Frontiers in medicinePorokeratosis palmaris et plantaris disseminata: broadening dermoscopic insights in a rare entity.
Dermatology online journalSolitary Genitogluteal Porokeratosis With Multiple Cornoid Lamellae: A Phenotypic Bridge Between Mibelli and Penoscrotal Variants.
The Journal of dermatologyDouble Trouble in Porokeratosis: Exploring Coexistent Porokeratosis Ptychotropica and Mibelli in Four Patients.
Indian dermatology online journalTopical Statins in the Treatment of Porokeratosis: A Systematic Review.
Clinical and experimental dermatologyKeratosis Lichenoides Chronica: Disease Associations and Treatment Response in Adult and Pediatric Populations.
Journal of cutaneous medicine and surgeryDiamond necklace appearance on ultraviolet fluorescence dermoscopy in porokeratosis.
QJM : monthly journal of the Association of PhysiciansGeneralized Linear Porokeratosis Treated With Ixekizumab.
The Journal of dermatologyDisseminated Superficial Actinic Porokeratosis in a Woman With Metastatic Pancreatic Cancer During Chemotherapy With Capecitabine and Nab-Paclitaxel.
The Australasian journal of dermatologyEruptive disseminated porokeratosis with diagnostic dermoscopic clues.
JAAD case reportsGrenz Ray Therapy for Porokeratosis Ptychotropica: A Case Report.
Case reports in dermatologyLong-term disease control of disseminated superficial actinic porokeratosis (DSAP) with simvastatin 2%/ cholesterol 2% cream.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGTopical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.
Pharmaceuticals (Basel, Switzerland)PMVK-related disseminated superficial and scrotal porokeratosis.
Indian journal of dermatology, venereology and leprologyGermline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
The British journal of dermatologyFrom a Gene Mutation to Pathology and Targeted Therapy in a Patient with Therapy-resistant Porokeratosis.
Acta dermato-venereologicaHigh-Frequency Electrocautery and Photodynamic Therapy for Porokeratosis Ptychotropica.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]The RANK-RANKL-OPG axis in dermatological malignancies: A systematic review.
International immunopharmacologyUnilateral Blaschkoid Porokeratosis of the Face.
Indian dermatology online journalPorokeratosis ptychotropica mimicking a herpes simplex virus infection.
JAAD case reportsSystematized Linear Porokeratosis, with Underlying Mevalonate Kinase Mutation, Treated with a Combination of Radiosurgery and Oral Acitretin.
Indian dermatology online journal[Porokeratosis ptychotropica with mycotic superinfection in a 68-year-old man].
Dermatologie (Heidelberg, Germany)Treatment of Porokeratosis Ptychotropica With Upadacitinib.
JAMA dermatologyTemporary improvement of porokeratotic inflammatory linear verrucous epidermal nevus with fractionated CO2 laser resurfacing.
Dermatology online journalTopical Lovastatin/Cholesterol as a Potential Field-Directed Therapy for Disseminated Superficial Actinic Porokeratosis: A Case Report.
CureusA case report of eruptive pruritic papular porokeratosis with atopic dermatitis treated with upadacitinib: a novel therapeutic perspective.
Frontiers in medicineEruptive Pruritic Papular Porokeratosis in a 77-Year-Old Male: A Rare Case.
CureusPorokeratosis ptychotropica: Diagnostic insights into a rare dermatosis.
JAAD case reportsAbrocitinib in the Treatment of Eruptive Pruritic Papular Porokeratosis: A Case Report.
International journal of dermatologyPorokeratosis Ptychotropica: A Clinical Note from Vietnam.
Oman medical journalFirst case of penile porokeratosis from Nepal: a case report.
Annals of medicine and surgery (2012)Ultraviolet-Induced Fluorescence Dermoscopy: Game Changers.
The Journal of clinical and aesthetic dermatology[Multiple squamous cell carcinomas arising in linear porokeratosis].
Dermatologie (Heidelberg, Germany)Multiple Verrucous Nodules and Masses in an Adolescent Boy With Porokeratoma: A Case Report and Literature Review.
Pediatric dermatologyA Case of Disseminated Bullous Superficial Porokeratosis.
International journal of dermatologyUltraviolet-Induced Fluorescence Dermoscopy of Porokeratosis.
Indian dermatology online journalLichen Sclerosus et Atrophicus, Porokeratosis, and Vitiligo: First Report of Coexistence of the Three Entities in a Child.
Indian dermatology online journalExpanding the Clinical Spectrum of Porokeratosis Ptychotropica.
CureusTense Bullous Eruptions Arising in Porokeratosis: A Quiz.
Acta dermato-venereologicaEruptive Disseminated Porokeratosis Induced by PEB Chemotherapy: A Case Report.
International journal of dermatologyCase Report: Rapid and Effective Treatment of Porokeratosis With Fractional CO2 Laser Combined With Topical 2% Cholesterol/Lovastatin Ointment.
Journal of cosmetic dermatologyAll pain, no gain: porokeratosis ptychotropica remains a therapeutic challenge.
Clinical and experimental dermatologyCHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.
The Journal of dermatological treatmentA case of porokeratosis ptychotropica mimicking condyloma acuminatum.
Journal of the European Academy of Dermatology and Venereology : JEADVSafety and efficacy of topical simvastatin plus cholesterol cream versus topical simvastatin cream alone for porokeratosis ptychotropica: A randomized, single-blind, split-body, placebo-controlled, investigator-initiated trial.
Journal of the American Academy of DermatologyAn Unusual Presentation of Verrucous Porokeratosis on Face.
Indian dermatology online journalFacial follicular porokeratosis simulating discoid lupus erythematosus in an African American woman.
JAAD case reportsPorokeratosis of Mibelli.
QJM : monthly journal of the Association of PhysiciansA rare case of mycosis fungoides with porokeratosis-like lesions: a case report and review of previous literature.
AME case reportsPorokeratosis of Mibelli affecting the lips: A novel ultraviolet-induced fluorescence dermoscopy finding.
Photodiagnosis and photodynamic therapyDisseminated Superficial Actinic Porokeratosis in a Mother and Daughter: A Case Report.
CureusPorokeratosis ptychotropica and concurrent condyloma acuminata respond well to photodynamic therapy.
Photodiagnosis and photodynamic therapyA New Case of Allergic Contact Dermatitis to Topical Simvastatin Used for Treatment of Porokeratosis.
Contact dermatitisRepurposing guselkumab to target itch in disseminated superficial actinic porokeratosis: insights from RNA sequencing.
Clinical and experimental dermatologyA large pruritic plaque in a patient with 2 kidney transplants.
JAAD case reportsUV-induced fluorescence dermatoscopy in a case of porokeratosis ptychotropica.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGTopical egg yolk oil (4% cholesterol) and oral rosuvastatin for the treatment of disseminated superficial actinic porokeratosis.
Indian journal of dermatology, venereology and leprologyPorokeratosis Ptychotropica.
Journal of cutaneous medicine and surgeryRapid Progression of Linear Porokeratosis Following COVID-19 Vaccination: A Case Report.
Indian dermatology online journalExtensive Spiculated Follicular Porokeratosis With Alopecia: A Case Report.
Clinical case reportsGenital porokeratosis: A case report and review of pathogenesis and genitogluteal subtypes of porokeratosis.
SAGE open medical case reportsA Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases.
Journal of cutaneous pathologySecrets of the Stratum Corneum I: Parakeratosis or Porokeratosis?
SkinmedHereditary Spiny Keratoderma in a Pediatric Patient: A Case Report and Literature Review.
Cureus[Translated article] Wood's Light in Inflammatory and Autoimmune Dermatoses, Infections and Skin Cancer.
Actas dermo-sifiliograficasPorokeratosis ptychotropica: Case reports and literature review.
Annales de dermatologie et de venereologieDisseminated Superficial Actinic Porokeratosis Treated with Topical Simvastatin: Evaluation of Therapeutic Response with Dermoscopy.
Dermatology practical & conceptualScalp Porokeratosis: Dermoscopy Key Role in Unmasking a Hidden Condition.
Dermatology practical & conceptualDisseminated Superficial Non-actinic Porokeratosis: A Consequence of Post-traumatic Immunosuppression.
CureusTopical atorvastatin in the management of porokeratosis.
Indian journal of dermatology, venereology and leprologyPorokeratoses-A Rare Group of Dermatoses.
Medicina (Kaunas, Lithuania)Disseminated superficial actinic porokeratosis in an elderly patient undergoing androgen deprivation therapy for advanced prostate cancer: exploring the potential association.
Dermatology reportsSuccessful treatment of porokeratosis of Mibelli with pathogenesis-directed treatment of topical cholesterol-lovastatin.
Pediatric dermatologyDisseminated superficial actinic porokeratosis treated with tretinoin and calcipotriene.
JAAD case reportsDisseminated Superficial Actinic Porokeratosis: A Systematic Treatment Review.
American journal of clinical dermatologyLovastatin/cholesterol cream for the treatment of disseminated superficial actinic porokeratosis: a retrospective cohort study.
International journal of dermatologyPenile and Scrotal Porokeratosis: A Single-Institution Experience.
The American Journal of dermatopathologyMalignant Transformation in Porokeratosis Ptychotropica: A Systematic Review.
Acta dermato-venereologica[Translated article] RF- Relationship Between Porokeratosis and Skin Cancer.
Actas dermo-sifiliograficasEpidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Genes & diseasesEstablishment of a Mouse Model for Porokeratosis Due to Mevalonate Diphosphate Decarboxylase Deficiency.
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)A Clinico-Epidemiological Study on Porokeratosis.
Indian journal of dermatologyPorokeratosis of Mibelli Treated With Topical 2% Lovastatin/2% Cholesterol Ointment.
CureusA case of porokeratosis with a variety of morphological manifestations.
Clinical case reportsPorokeratosis ptychotropica without genitogluteal involvement - A rare presentation.
Indian journal of dermatology, venereology and leprologyMVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient.
Clinical, cosmetic and investigational dermatologyPorokeratoses: an update on pathogenesis and treatment.
International journal of dermatologyLine-field confocal optical coherence tomography for the differential diagnosis of porokeratosis from clinical mimickers: a preliminary study.
Clinical and experimental dermatologyGenitogluteal porokeratosis with dystrophic calcinosis on the scrotum.
Annales de dermatologie et de venereologiePresentations of Cutaneous Disease in Various Skin Pigmentations: Porokeratosis.
HCA healthcare journal of medicineConventional and Novel Treatment Strategies for Porokeratoses: A Narrative Review.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGUnilateral porokeratosis associated with neoadjuvant radiotherapy of the pelvis.
International journal of dermatologyPorokeratosis on the lip: A Case Series.
Dermatology online journalComplete relief by omalizumab in eruptive pruritic papular porokeratosis.
JAAD case reportsDisseminated superficial porokeratosis: two case reports of successful treatment with 2% crisaborole ointment.
International journal of dermatologyVerrucous Linear Porokeratosis with Dermal Amyloid Deposits - A Rare Presentation.
Indian dermatology online journalA Case of Palmoplantar Porokeratosis With Hypokeratosis: A New Subtype of Porokeratosis?
The American Journal of dermatopathologyA Case of Squamous Cell Carcinoma Arising in Disseminated Superficial Porokeratosis.
Clinical, cosmetic and investigational dermatologyPorokeratosis Ptychotropica Mimicking Anogenital Warts.
Dermatology practical & conceptualEruptive Pruritic Papular Porokeratosis (EPPP) Presenting as a Rare Facial Manifestation Associated With COVID-19: A Case Report.
CureusEffective treatment of solar facial porokeratosis in one patient with topical atorvastatin/cholesterol cream.
Clinical and experimental dermatologyGene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
American journal of human geneticsSuccessful treatment of porokeratosis ptychotropica with abrocitinib.
International journal of dermatologyAccuracy of ultraviolet-induced fluorescence dermoscopy in porokeratosis: An observational study.
Journal of cosmetic dermatologyFocal actinic porokeratosis over nose successfully treated with topical tacrolimus.
Indian journal of dermatology, venereology and leprologySpiny Keratoderma: Clinical and Histopathological Findings in a Series of 3 Cases.
The American Journal of dermatopathologyChallenges in the Diagnosis and Management of Giant Porokeratosis: A Case Report.
CureusDiseases categorized as autoinflammatory keratinization diseases (AiKDs), and their pathologies and treatments.
Nagoya journal of medical scienceAn Unusual Clinical Presentation of Mibelli's Porokeratosis.
SkinmedBeyond the surface: Ultraviolet-induced fluorescence dermatoscopy in the diagnosis of segmental porokeratosis.
The Australasian journal of dermatologyBlaschkoid disseminated superficial porokeratosis.
BMJ case reportsMalignant transformation of porokeratosis of Mibelli in a psoriatic patient.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGRed Flat Papules on the Abdomen and Lower Limbs of an Old Woman.
Indian journal of dermatologyA Rare Case of Follicular Porokeratosis Ptychotropica: When Dermoscopy Enghlitens Clinics.
Dermatology practical & conceptualClinical-pathologic correlation: The impact of grossing at the bedside.
Seminars in diagnostic pathology[Translated article] Is Follicular Porokeratosis a Distinct Clinical Variant?
Actas dermo-sifiliograficasDisseminated Superficial Porokeratosis: A Case Report.
CureusMosaic GJB2 mutations in widespread porokeratotic adnexal ostial nevus: Report of two patients.
The Journal of dermatologyTwo Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.
Clinical, cosmetic and investigational dermatologyPorokeratosis of the scrotum: a case report and literature review.
Frontiers in medicineCutaneous Horn Presentation in Porokeratotic Eccrine Ostial and Dermal Duct Nevus. A Brief Review and Case Report.
The American Journal of dermatopathologyPorokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.
MetabolitesEfficacy and safety of tirbanibulin 1% ointment in actinic keratoses: Data from two phase-III trials and the real-life clinical practice presented at the European Academy of Dermatology and Venereology Congress 2022.
Journal of the European Academy of Dermatology and Venereology : JEADVAutoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Clinical reviews in allergy & immunologyEfficacy of Topical Cholesterol and Statin Combination Therapy in the Treatment of Porokeratosis: A Systematic Review and Meta-Analysis.
Journal of drugs in dermatology : JDDA novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.
Clinical geneticsFive years follow-up of a patient with porokeratosis ptychotropica and MVK gene mutation.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGExclusive and Solitary Facial Porokeratosis: Pathogenesis and Literature Reappraisal of a Rare Entity.
Case reports in dermatologyPossible Association of Interleukin-31/-31RA Signalling and Basophils with Itch in Porokeratosis.
Acta dermato-venereologicaA Review of the Efficacy of Topical Statins for Treating Disseminated Superficial Actinic Porokeratosis.
Journal of drugs in dermatology : JDDPathogenesis-directed treatment of linear porokeratosis with topical cholesterol-lovastatin.
Pediatric dermatologyBilateral Linear Porokeratosis Treated With Topical Lovastatin 2% Monotherapy.
CureusA case of pruritic hyperkeratotic papules on the back.
JAAD case reportsClinicopathological retrospective analysis of porokeratosis ptychotropica and genitogluteal porokeratosis: confusion-prone but essentially different twins.
Archives of dermatological researchIncidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.
Acta dermato-venereologicaA Report of Eruptive Pruritic Papular Porokeratosis Treated with Abrocitinib.
Clinical, cosmetic and investigational dermatologyCharacteristics of glioblastomas and immune microenvironment in a Chinese family with Lynch syndrome and concurrent porokeratosis.
Frontiers in oncologyA Case of Linear Porokeratosis.
Indian dermatology online journalA Case of Disseminated Superficial Actinic Porokeratosis Successfully Treated With Topical Lovastatin/Cholesterol Gel.
CureusSuccessful Treatment of Eruptive Pruritic Papular Porokeratosis in the Elderly with Tofacitinib: A Case Report.
Clinical, cosmetic and investigational dermatologyTargeted anti-interleukin-17 therapy for linear porokeratosis.
The British journal of dermatologyA case of squamous cell carcinoma arising in a giant porokeratosis previously diagnosed as psoriasis.
Dermatology reportsA Novel PMVK Variant Associated with Familial Porokeratosis.
Human heredityCombining Isotretinoin and Topical Cholesterol/Atorvastatin in the Treatment of Linear Porokeratosis: A Case Report.
CureusAutosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
American journal of medical genetics. Part C, Seminars in medical geneticsCase Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China.
Clinical, cosmetic and investigational dermatologyDecreased Imiquimod-Induced Psoriasis-Like Skin Inflammation in a Novel MvdF250S/+ Knock-In Mouse Model.
InflammationSpiny Keratoderma in Association with Melanoma.
Dermatopathology (Basel, Switzerland)[Translated article] RF-Topical Cholesterol and Statin Formulation to Treat Porokeratosis.
Actas dermo-sifiliograficasTherapeutic Effects of Statins: Promising Drug for Topical and Transdermal Administration.
Current medicinal chemistryA rare case of punctate porokeratosis treated with topical lovastatin/cholesterol.
JAAD case reportsConcomitance of Hidradenitis Suppurativa and Porokeratoses.
The Journal of clinical and aesthetic dermatologyPorokeratosis Ptychotropica: A Rare Manifestation and Dermoscopic Feature.
Indian journal of dermatologySafety and Efficacy of Topical Lovastatin Plus Cholesterol Cream vs Topical Lovastatin Cream Alone for the Treatment of Disseminated Superficial Actinic Porokeratosis: A Randomized Clinical Trial.
JAMA dermatologyExclusive facial porokeratosis with follicular involvement in an African American female.
Journal of cutaneous pathologyThe Brownish Verrucous Plaques on Buttocks: Challenge.
The American Journal of dermatopathologyThe Brownish Verrucous Plaques on Buttocks: Answer.
The American Journal of dermatopathologyPorokeratotic lichen planus of the lower extremities.
The Australasian journal of dermatologyDifferentiating Fordyce Spots from Their Common Simulators Using Ultraviolet-Induced Fluorescence Dermatoscopy-Retrospective Study.
Diagnostics (Basel, Switzerland)Dermoscopy of Zosteriform and Swirling Pattern Type 1 Segmental Darier Disease.
Acta dermatovenerologica Croatica : ADCTreatment of Porokeratosis Ptychotropica With a Topical Combination of Cholesterol and Simvastatin.
JAMA dermatologyTreating linear porokeratosis with topical lovastatin/cholesterol cream.
Dermatology online journalA rare case of genital porokeratosis associated with epididymo-orchitis.
Indian journal of sexually transmitted diseases and AIDSMosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.
Journal of the European Academy of Dermatology and Venereology : JEADVSuccessful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations.
Clinical and experimental dermatologyHistopathologic findings of drug-induced eruptive porokeratosis under nivolumab therapy.
Journal of cutaneous pathologyA possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.
The Journal of dermatologyPorokeratosis of gluteal region: A case report.
SAGE open medical case reportsPorokeratosis ptychotropica: a case report.
Journal of Yeungnam medical scienceAn unusual case report of porokeratosis ptychotropica on the buttocks.
MedicinePersistent plaque on the buttock of a 5-year-old girl.
Pediatric dermatologyPerianal and Scrotal Porokeratosis Ptychotropica. Case Report of an Unusual Condition, and Review of the Literature.
Actas dermo-sifiliograficasLinear porokeratosis of the foot with dermoscopic manifestations: A case report.
World journal of clinical casesPorokeratosis and Lichen Planus: Co-Localisation or Isotopic Response or Koebner's Phenomenon?
Indian journal of dermatologyA novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.
International journal of dermatologyDisseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report.
The Australasian journal of dermatologyPorokeratotic Variant of Lichen Planus.
SkinmedA hidden and rare variant of porokeratosis: A case report of porokeratosis ptychotropica and report of the literature.
The Australasian journal of dermatologyPlaque-type verrucous porokeratosis of the back.
JAAD case reportsPorokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma.
Journal of the European Academy of Dermatology and Venereology : JEADVPalmar dermatofibroma in a patient with multiple porokeratosis.
Anais brasileiros de dermatologiaPorokeratosis of Mibelli - Not So Rare in Coloured Skin.
Indian journal of dermatologyNovel topical statin treatments of disseminated actinic porokeratosis risk provoking cutaneous sensitization.
Contact dermatitisBilateral Linear Porokeratosis Treated With Topical Cholesterol 2%/Lovastatin 2.
CureusPhotodynamic therapy in pediatric age: Current applications and future trends.
Frontiers in pharmacologyAssessing Cutaneous Mosaicism at the Molecular Level.
The Journal of investigative dermatologyDisseminated Superficial Actinic Porokeratosis (DSAP): A Case Report Highlighting the Clinical, Dermatoscopic, and Pathology Features of the Condition.
CureusFollicular Porokeratoma: Report of a New Variant of Porokeratoma (Porokeratotic Acanthoma) and Literature Review.
The American Journal of dermatopathologyEffects of Blue Light on the Skin and Its Therapeutic Uses: Photodynamic Therapy and Beyond.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Systematized Linear Porokeratosis With Palmoplantar and Nail Involvement: A Rare Presentation.
- Successful Treatment of Linear Porokeratosis with Ivarmacitinib in an Adolescent: A Case Report.
- New Eruption of Bullous Pemphigoid Within Disseminated Superficial Porokeratosis Lesions: A Rare Case Report.
- Disseminated superficial porokeratosis with dermal amyloid deposits: A case report and review of the literature.
- Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.
- Solitary Porokeratoma on the Foot: A Case Report and Literature Review.
- Localized nasal porokeratosis successfully treated with 5-fluorouracil and calcipotriene.
- Ultraviolet-Induced Fluorescence Dermatoscopy (UVFD) features in Porokeratosis: Findings from a Multicenter Retrospective Study.
- Successful Treatment of Localized Eruptive Pruritic Papular Porokeratosis with A Single Session of Cryotherapy: A Case Report.
- Porokeratosis ptychotropica.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79358(Orphanet)
- MONDO:0006602(MONDO)
- GARD:18989(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7230264(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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