Raras
Buscar doenças, sintomas, genes...
Poroqueratose actínica disseminada superficial
ORPHA:79152CID-10 · Q82.8CID-11 · ED52DOENÇA RARA

A Poroceratose Actínica Superficial Disseminada (PASD) é o tipo mais comum de poroceratose (um problema de pele). Ela se caracteriza pelo aparecimento de várias pequenas manchas ou lesões em forma de anel, com uma borda em relevo, mais grossa e áspera. Essas lesões surgem com mais frequência nas áreas da pele expostas ao sol, especialmente nos braços e pernas (as extremidades).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Poroceratose Actínica Superficial Disseminada (PASD) é o tipo mais comum de poroceratose (um problema de pele). Ela se caracteriza pelo aparecimento de várias pequenas manchas ou lesões em forma de anel, com uma borda em relevo, mais grossa e áspera. Essas lesões surgem com mais frequência nas áreas da pele expostas ao sol, especialmente nos braços e pernas (as extremidades).

Publicações científicas
272 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adolescent
+ adult, childhood, elderly
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
3 sintomas
💪
Músculos
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Poroceratose
Muito frequente (99-80%)
55%prev.
Fotossensibilidade cutânea
Frequente (79-30%)
17%prev.
Carcinoma de células escamosas
Ocasional (29-5%)
17%prev.
Prurido
Ocasional (29-5%)
Distrofia ungueal
Pápula
7sintomas
Muito frequente (1)
Frequente (1)
Ocasional (2)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.

PoroceratosePorokeratosis
Muito frequente (99-80%)90%
Fotossensibilidade cutâneaCutaneous photosensitivity
Frequente (79-30%)55%
Carcinoma de células escamosasSquamous cell carcinoma
Ocasional (29-5%)17%
PruridoPruritus
Ocasional (29-5%)17%
Distrofia unguealNail dystrophy

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico272PubMed
Últimos 10 anos97publicações
Pico202114 papers
Linha do tempo
2026Hoje · 2026🧪 2000Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

FDPSFarnesyl pyrophosphate synthaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (2)
Lanosterol biosynthesisActivation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
239.2 TPM
Fibroblastos
108.2 TPM
Esôfago - Mucosa
99.1 TPM
Pulmão
90.6 TPM
Skin Sun Exposed Lower leg
83.5 TPM
OUTRAS DOENÇAS (2)
porokeratosis 9, multiple typesdisseminated superficial actinic porokeratosis
HGNC:3631UniProt:P14324
SLC17A9Voltage-gated purine nucleotide uniporter SLC17A9Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle, chromaffin granule membraneCytoplasmic vesicle, secretory vesicle membraneLysosome membrane

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
96.5 TPM
Linfócitos
64.5 TPM
Baço
41.6 TPM
Fibroblastos
31.9 TPM
Pulmão
15.8 TPM
OUTRAS DOENÇAS (2)
porokeratosis 8, disseminated superficial actinic typedisseminated superficial actinic porokeratosis
HGNC:16192UniProt:Q9BYT1
MVKMevalonate kinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

CytoplasmPeroxisome

VIAS BIOLÓGICAS (2)
Lanosterol biosynthesisActivation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
41.6 TPM
Esôfago - Mucosa
40.7 TPM
Skin Sun Exposed Lower leg
34.1 TPM
Rim - Medula
33.4 TPM
Skin Not Sun Exposed Suprapubic
32.7 TPM
OUTRAS DOENÇAS (5)
mevalonic aciduriaporokeratosis 3, disseminated superficial actinic typehyperimmunoglobulinemia D with periodic feverporokeratosis of Mibelli
HGNC:7530UniProt:Q03426
MVDDiphosphomevalonate decarboxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (3)
Synthesis of dolichyl-phosphateLanosterol biosynthesisActivation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
66.6 TPM
Linfócitos
65.2 TPM
Cérebro - Hemisfério cerebelar
63.6 TPM
Esôfago - Mucosa
63.3 TPM
Testículo
63.0 TPM
OUTRAS DOENÇAS (2)
porokeratosis 7, multiple typesdisseminated superficial actinic porokeratosis
HGNC:7529UniProt:P53602

Variantes genéticas (ClinVar)

309 variantes patogênicas registradas no ClinVar.

🧬 MVD: GRCh37/hg19 16q24.2-24.3(chr16:87640702-89570635)x1 ()
🧬 MVD: NM_002461.3(MVD):c.1014-1G>T ()
🧬 MVD: GRCh37/hg19 16q11.2-24.3(chr16:46432879-90294753)x3 ()
🧬 MVD: GRCh37/hg19 16q24.2-24.3(chr16:87794842-89460290)x1 ()
🧬 MVD: Single allele ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
VUS (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
SLC17A9: NM_022082.4(SLC17A9):c.1118-2A>G [Uncertain significance]

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
1Fase 11
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Poroqueratose actínica disseminada superficial

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
99 papers (10 anos)
#1

Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.

Frontiers in medicine2026

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.

#2

Disseminated Superficial Actinic Porokeratosis in a Woman With Metastatic Pancreatic Cancer During Chemotherapy With Capecitabine and Nab-Paclitaxel.

The Australasian journal of dermatology2026 Mar

We report a case of disseminated superficial actinic porokeratosis (DSAP) in a 73-year-old woman with metastatic pancreatic cancer undergoing chemotherapy with capecitabine and nab-paclitaxel. This case suggests a possible association between DSAP and the use of these chemotherapeutic agents, emphasising the need for awareness of atypical dermatologic reactions in such patients.

#3

Long-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 : JDDG2025 Nov 29

Disseminated superficial actinic porokeratosis (DSAP) is a rare keratinization disorder associated with an increased risk of cutaneous tumors. To develop a feasible and easy-to-apply treatment regimen for long-time disease control of DSAP including prevention of new skin tumors. 19 patients with DSAP were treated with 2% simvastatin/2% cholesterol (SC) cream for a maximum period of 18 months. Disease severity was assessed via Investigator Global Assessment (IGA), and quality of life (QoL) was measured using the Dermatology Life Quality Index (DLQI). Adverse events and tumor development were documented. Significant improvement in IGA scores was observed across all treated regions (p < 0.001), with most progress occurring in the first 3 months but maintained under a reduced proactive application schedule twice weekly. DLQI scores decreased significantly within the first 3 months. No new skin tumors developed during treatment. SC cream is a promising long-term, targeted treatment for DSAP, offering sustained efficacy, good tolerability, and improved QoL. The individual tapering from daily use to a proactive approach twice a week may be a key factor for disease control and may become an important component of skin tumor prevention in this specific patient population.

#4

Topical Lovastatin/Cholesterol as a Potential Field-Directed Therapy for Disseminated Superficial Actinic Porokeratosis: A Case Report.

Cureus2025 Aug

Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratoses, a rare group of disorders characterized by abnormal keratinization. Although the exact etiology is not fully understood, DSAP has been linked to genetic mutations in the mevalonate biosynthesis pathway. Based on this association, topical therapy with a combination of lovastatin and cholesterol has recently emerged as a promising treatment option. In this case study, we present a patient with extensive lower-extremity DSAP and a history of unsuccessful treatment with multiple traditional modalities, who was successfully treated with a 2% lovastatin/cholesterol formulation.

#5

Disseminated Superficial Actinic Porokeratosis in a Mother and Daughter: A Case Report.

Cureus2025 Mar

Porokeratosis is an autosomal dominant condition of epidermal keratinization. There are many clinical and morphological variants of porokeratosis, the most prevalent of which is disseminated superficial actinic porokeratosis (DSAP), which commonly affects photoexposed areas. Here, we present a 52-year-old woman and her 24-year-old daughter having similar complaints of gradually enlarging, annular hyperpigmented plaques on photoexposed areas suggesting familial transmission. Diagnosed as DSAP, treatment with oral isotretinoin and topical keratolytics showed significant improvement within one and a half months. This case report highlights familial DSAP cases in a mother and daughter, which is rare, emphasizing the importance of early diagnosis and management for better outcomes and reduced malignancy risk. Disseminated superficial actinic porokeratosis (DSAP) is a disease of disordered keratinization. This condition represents 1 of 6 porokeratosis variants and involves more extensive distribution than most others. Linear porokeratosis, porokeratosis of Mibelli, punctate porokeratosis, porokeratosis palmaris et plantaris disseminata, and disseminated superficial porokeratosis comprise the remaining 5 variants. Other rare forms include porokeratosis ptychotropica, facial porokeratosis, giant porokeratosis, hypertrophic verrucous porokeratosis, reticulate porokeratosis, and eruptive pruritic papular porokeratosis. The eruptive form has been linked to malignancy, immunosuppression, and a pro-inflammatory state. Lesions develop across the body. Risk factors for porokeratosis include genetic predisposition, immunosuppression, and ultraviolet light exposure. A defining feature of all porokeratosis variants is the cornoid lamella, which appears histologically as a column of parakeratotic cells. This structure is characterized by a raised ridge circumscribing porokeratotic lesions. DSAP lesions begin as pink to brown papules and macules with a raised border in sun-exposed areas. These lesions may be asymptomatic or mildly pruritic. DSAP is considered precancerous, with a 7.5% to 10% risk of malignant transformation to squamous cell carcinoma (SCC) or basal cell carcinoma (BCC). Multiple treatment options exist, including topical diclofenac, photodynamic therapy (PDT), 5-fluorouracil (5-FU), imiquimod, vitamin D analogs (eg, calcipotriene), retinoids, and lasers.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC194 artigos no totalmostrando 96

2026

Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.

Frontiers in medicine
2026

Disseminated Superficial Actinic Porokeratosis in a Woman With Metastatic Pancreatic Cancer During Chemotherapy With Capecitabine and Nab-Paclitaxel.

The Australasian journal of dermatology
2025

Long-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 : JDDG
2025

Topical Lovastatin/Cholesterol as a Potential Field-Directed Therapy for Disseminated Superficial Actinic Porokeratosis: A Case Report.

Cureus
2025

Porokeratosis ptychotropica: Diagnostic insights into a rare dermatosis.

JAAD case reports
2025

Case Report: Rapid and Effective Treatment of Porokeratosis With Fractional CO2 Laser Combined With Topical 2% Cholesterol/Lovastatin Ointment.

Journal of cosmetic dermatology
2025

Disseminated Superficial Actinic Porokeratosis in a Mother and Daughter: A Case Report.

Cureus
2025

Repurposing guselkumab to target itch in disseminated superficial actinic porokeratosis: insights from RNA sequencing.

Clinical and experimental dermatology
2025

Topical egg yolk oil (4% cholesterol) and oral rosuvastatin for the treatment of disseminated superficial actinic porokeratosis.

Indian journal of dermatology, venereology and leprology
2024

Disseminated Superficial Actinic Porokeratosis Treated with Topical Simvastatin: Evaluation of Therapeutic Response with Dermoscopy.

Dermatology practical &amp; conceptual
2024

Porokeratoses-A Rare Group of Dermatoses.

Medicina (Kaunas, Lithuania)
2024

Disseminated superficial actinic porokeratosis in an elderly patient undergoing androgen deprivation therapy for advanced prostate cancer: exploring the potential association.

Dermatology reports
2024

Disseminated superficial actinic porokeratosis treated with tretinoin and calcipotriene.

JAAD case reports
2025

Disseminated Superficial Actinic Porokeratosis: A Systematic Treatment Review.

American journal of clinical dermatology
2025

Lovastatin/cholesterol cream for the treatment of disseminated superficial actinic porokeratosis: a retrospective cohort study.

International journal of dermatology
2024

A Clinico-Epidemiological Study on Porokeratosis.

Indian journal of dermatology
2024

A case of porokeratosis with a variety of morphological manifestations.

Clinical case reports
2023

Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.

Metabolites
2023

A Review of the Efficacy of Topical Statins for Treating Disseminated Superficial Actinic Porokeratosis.

Journal of drugs in dermatology : JDD
2023

Bilateral Linear Porokeratosis Treated With Topical Lovastatin 2% Monotherapy.

Cureus
2023

Characteristics of glioblastomas and immune microenvironment in a Chinese family with Lynch syndrome and concurrent porokeratosis.

Frontiers in oncology
2023

A Case of Disseminated Superficial Actinic Porokeratosis Successfully Treated With Topical Lovastatin/Cholesterol Gel.

Cureus
2023

Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China.

Clinical, cosmetic and investigational dermatology
2023

Safety 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 dermatology
2022

Linear porokeratosis of the foot with dermoscopic manifestations: A case report.

World journal of clinical cases
2023

Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report.

The Australasian journal of dermatology
2023

Porokeratosis 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 : JEADV
2022

Disseminated Superficial Actinic Porokeratosis (DSAP): A Case Report Highlighting the Clinical, Dermatoscopic, and Pathology Features of the Condition.

Cureus
2022

Effects 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.]
2022

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.

Genes &amp; diseases
2022

Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report.

World journal of clinical cases
2022

Grenz ray therapy in disseminated superficial actinic porokeratosis: A case series of 17 patients.

The Australasian journal of dermatology
2021

Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.

Clinica chimica acta; international journal of clinical chemistry
2022

Successful treatment of disseminated superficial actinic porokeratosis with topical 2% cholesterol/ 2% lovastatin cream: a case series with 7 patients.

Journal of the European Academy of Dermatology and Venereology : JEADV
2021

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Indian journal of dermatology
2021

Dermoscopy of porokeratosis: results from a multicentre study of the International Dermoscopy Society.

Journal of the European Academy of Dermatology and Venereology : JEADV
2021

Topical simvastatin-cholesterol for disseminated superficial actinic porokeratosis: An open-label, split-body clinical trial.

The Australasian journal of dermatology
2021

Management of disseminated superficial actinic porokeratosis and intraepidermal squamous cell carcinoma with low-dose radiation therapy.

The Australasian journal of dermatology
2021

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Journal of clinical medicine
2021

Case of disseminated superficial actinic porokeratosis successfully treated with Q-switched ruby laser.

The Journal of dermatology
2021

The Malignancy Potential of Porokeratosis: A Single-Center Retrospective Study.

Cureus
2021

Pigmented disseminated superficial actinic porokeratosis in dark-skinned patients: Clinical, dermoscopic, and histopathologic features.

Journal of cosmetic dermatology
2021

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.

Acta dermato-venereologica
2021

Novel mutation in MVK gene for co-occurrence of disseminated superficial actinic porokeratosis with porokeratosis ptychotropica.

The Journal of dermatology
2021

Refractory disseminated superficial actinic porokeratosis effectively treated with cholesterol/lovastatin cream: A case report.

Dermatologic therapy
2021

Drugs associated with development of porokeratosis: A systematic review.

Dermatologic therapy
2020

Generalized type 2 segmental disseminated superficial actinic porokeratosis coexisted with multiple cutaneous squamous cell carcinomas: Analysis of two cases.

Indian journal of pathology &amp; microbiology
2021

Effective treatment of disseminated superficial actinic porokeratosis using a novel topical cholesterol/simvastatin combination cream.

The Australasian journal of dermatology
2020

Cholesterol partially rescues the inhibition effect of pravastatin on keratinocytes proliferation by regulating cell cycle relative proteins through AKT and ERK pathway.

Dermatologic therapy
2020

Lichenoid inflammation of DSAP lesions following treatment with durvalumab, olaparib and paclitaxel: A potential diagnostic pitfall mimicking lichenoid drug eruptions associated with PDL-1 inhibitors.

Dermatology online journal
2020

[Dermoscopy of disseminated superficial actinic porokeratosis].

Annales de dermatologie et de venereologie
2020

Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate.

Experimental and therapeutic medicine
2020

Looking horizontally at disseminated superficial actinic porokeratosis: Correlations between in-vivo reflectance confocal microscopy and histopathology.

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)
2019

Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis.

The Journal of investigative dermatology
2019

A precancerous skin lesion that is often misdiagnosed.

Australian journal of general practice
2020

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

Journal of the American Academy of Dermatology
2019

Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level.

The British journal of dermatology
2019

Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and immunohistochemical analysis of anti-Slingshot homolog 1 antibody in one typical patient.

Journal of the European Academy of Dermatology and Venereology : JEADV
2019

Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.

The Journal of investigative dermatology
2019

Superficial shaving combined with photodynamic therapy for treating disseminated superficial actinic porokeratosis: A case report.

Photodiagnosis and photodynamic therapy
2020

Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease.

The Journal of dermatological treatment
2019

Multiple flat-topped scaly violaceous papules.

Dermatology online journal
2019

Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.

The British journal of dermatology
2019

A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis.

The British journal of dermatology
2018

Improved effect on 2 cases of disseminated superficial actinic porokeratosis with daylight photodynamic therapy.

Photodiagnosis and photodynamic therapy
2018

Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis.

JAAD case reports
2018

Temozolomide-induced inflammation of disseminated superficial actinic porokeratosis.

Dermatology online journal
2018

A report and follow up of a patient with disseminated superficial actinic porokeratosis (DSAP) undergoing novel systemic treatment with palifermin (a keratinocyte growth factor) during chemotherapy.

Dermatology online journal
2018

Disseminated Superficial Actinic Porokeratosis in a Vitiligo Patient Undergoing Treatment with Long-Term Narrowband Ultraviolet B.

Annals of dermatology
2018

Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy.

Annals of dermatology
2018

Amelanotic melanoma arising within a lesion of disseminated superficial actinic porokeratosis: An unusual presentation leading to a novel therapeutic approach.

Dermatologic therapy
2018

Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review.

Journal of cutaneous medicine and surgery
2017

Successful Use of Grenz Rays for Disseminated Superficial Actinic Porokeratosis: Report of 8 Cases.

Dermatology (Basel, Switzerland)
2017

Treatment of disseminated superficial actinic porokeratosis with oral alitretinoin.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Disseminated superficial actinic porokeratosis treated with ingenol mebutate gel 0.05.

Cutis
2017

Follicular Porokeratosis, a Porokeratosis Variant.

The American Journal of dermatopathology
2017

Light and laser treatment modalities for disseminated superficial actinic porokeratosis: a systematic review.

Lasers in medical science
2016

Multiple actinic keratoses induced by occupational UV exposure in a patient with preexisting disseminated superficial actinic porokeratosis (Chernosky-Freeman).

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2017

Successful management of disseminated superficial actinic porokeratosis with diclofenac sodium 3% gel.

Dermatologic therapy
2017

[Circumscribed palmar hypokeratosis (CPM): The diagnostic value of dermoscopy].

Annales de dermatologie et de venereologie
2016

Porokeratosis ptychotropica: a rare manifestation with typical histological exam.

Anais brasileiros de dermatologia
2016

Two cases of disseminated superficial actinic porokeratosis treated with daylight-mediated photodynamic therapy.

Dermatologic therapy
2017

Disseminated superficial actinic porokeratosis (DSAP): significant improvement after local administration of calcipotriol/betamethasone gel?

Wiener medizinische Wochenschrift (1946)
2016

[Disseminated superficial actinic porokeratosis in a pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2016

Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy.

The British journal of dermatology
2015

Disseminated superficial porokeratosis involving the groin and genitalia in a 72-year-old immunocompetent man.

JAAD case reports
2017

Dermoscopy of Disseminated Superficial Actinic Porokeratosis.

Actas dermo-sifiliograficas
2016

Disseminated Superficial Actinic Porokeratosis.

Actas dermo-sifiliograficas
2016

Disseminated superficial actinic porokeratosis improved with fractional 1927-nm laser treatments.

Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
2016

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.

Clinica chimica acta; international journal of clinical chemistry
2015

Premalignant and Malignant Skin Lesions in Two Recipients of Vascularized Composite Tissue Allografts (Face, Hands).

Case reports in transplantation
2015

Disseminated superficial actinic porokeratosis accentuated by spray tan.

International journal of dermatology
2015

Porokeratosis - Head to toe: An unusual presentation.

Indian dermatology online journal
2015

Eruptive disseminated porokeratosis associated with corticosteroid-induced immunosuppression.

Clinical and experimental dermatology
2015

Disseminated superficial actinic porokeratosis in a psoriasis patient with a long-term sun-bathing habit.

The Journal of dermatology
Ver todos os 194 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Poroqueratose actínica disseminada superficial.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Poroqueratose actínica disseminada superficial

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.
    Frontiers in medicine· 2026· PMID 41737384mais citado
  2. Disseminated Superficial Actinic Porokeratosis in a Woman With Metastatic Pancreatic Cancer During Chemotherapy With Capecitabine and Nab-Paclitaxel.
    The Australasian journal of dermatology· 2026· PMID 41387093mais citado
  3. Long-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 : JDDG· 2025· PMID 41318917mais citado
  4. Topical Lovastatin/Cholesterol as a Potential Field-Directed Therapy for Disseminated Superficial Actinic Porokeratosis: A Case Report.
    Cureus· 2025· PMID 40978946mais citado
  5. Disseminated Superficial Actinic Porokeratosis in a Mother and Daughter: A Case Report.
    Cureus· 2025· PMID 40255783mais citado
  6. Porokeratosis ptychotropica: Diagnostic insights into a rare dermatosis.
    JAAD Case Rep· 2025· PMID 40894451recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79152(Orphanet)
  2. MONDO:0019212(MONDO)
  3. GARD:10983(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q5282749(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Poroqueratose actínica disseminada superficial
Compêndio · Raras BR

Poroqueratose actínica disseminada superficial

ORPHA:79152 · MONDO:0019212
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
Q82.8 · Outras malformações congênitas especificadas da pele
CID-11
Início
Adolescent, Adult, Childhood, Elderly
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0162839
Repurposing
3 candidatos
ingenolPKC activator
retinolretinoid receptor ligand
ureahydroxy radical formation stimulant
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades