Doença de pigmentação caracterizada por um padrão reticulado de coloração anormalmente escura da pele, principalmente nas dobras e vincos do corpo.
Introdução
O que você precisa saber de cara
Doença de pigmentação caracterizada por um padrão reticulado de coloração anormalmente escura da pele, principalmente nas dobras e vincos do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins,
Endoplasmic reticulum membraneGolgi apparatus, Golgi stack membraneCell membraneMembrane
Acne inversa, familial, 2, with or without Dowling-Degos disease
An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease.
Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Not
Endoplasmic reticulum lumen
Dowling-Degos disease 4
A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity)
Cytoplasm
Epidermolysis bullosa simplex 2A, generalized severe
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features.
Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE
Endoplasmic reticulum
Dowling-Degos disease 2
An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.
Variantes genéticas (ClinVar)
212 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 109 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
21 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 — Doença de Dowling-Degos
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single-gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ocular, auditory, and systemic manifestations. This review examines the molecular mechanisms underlying major genetic pigmentary disorders, including hypopigmentary (e.g., oculocutaneous albinism, piebaldism, and Waardenburg syndrome) and hyperpigmentary (e.g., dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, reticulate acropigmentation of Kitamura, and Dowling-Degos disease) disorders. Additionally, we discuss RASopathies, in which pigmentary abnormalities occur alongside multisystem developmental anomalies. Comprehensive understanding of these conditions can provide crucial insights into melanocyte biology and guide future clinical management strategies for affected patients.
Revisiting classification and genotype-phenotype correlations in Dowling-Degos disease and Galli-Galli disease.
Reticulated papules beyond the flexures.
Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.
When comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease.
Publicações recentes
A Closer Look at Dowling-Degos Disease: A Case Report and Quantitative Assessment of Its Surface Texture Parameters.
A novel likely pathogenic POFUT1 variant in a Turkish family with Dowling-Degos disease.
Revisiting classification and genotype-phenotype correlations in Dowling-Degos disease and Galli-Galli disease.
Reticulated papules beyond the flexures.
Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.
📚 EuropePMC179 artigos no totalmostrando 140
Revisiting classification and genotype-phenotype correlations in Dowling-Degos disease and Galli-Galli disease.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGReticulated papules beyond the flexures.
JAAD case reportsFamilial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.
Clinical and experimental dermatologyWhen comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease.
Anais brasileiros de dermatologiaCo-occurrence of Dowling-Degos Disease and Hidradenitis Suppurativa: An Exploratory Study.
Actas dermo-sifiliograficasDowling-Degos Disease with Multiple Seborrheic Keratosis: An Atypical Presentation in Two Siblings.
Indian dermatology online journalProgressive scattered and reticular pigmentation lesions.
JAAD case reportsGenetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
The Journal of dermatologyA case of late-onset Dowling-Degos disease with hidradenitis suppurativa.
JAAD case reportsReticulate acropigmentation of Kitamura with café-au-lait macules: a rare case report.
Frontiers in medicineHidradenitis Suppurativa with Dowling-Degos Disease Associated with KRT14 Mutation in an Indian Family.
Indian dermatology online journalBeneath the surface: delineating the subtypes of Dowling-Degos disease.
The British journal of dermatologyUnraveling Dowling-Degos Disease: A Rare Skin Disorder.
Clinical case reportsDowling-Degos disease in a 23-year-old Jordanian male: a case report.
Journal of medical case reportsOral tofacitinib for generalized Dowling-Degos disease with refractory pruritus: a case report.
The Journal of dermatological treatmentPSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations.
Frontiers in medicineGenetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.
JID innovations : skin science from molecules to population healthPathogenic variants in PSENEN and NCSTN genes cause 'follicular' Dowling-Degos disease: Report of five unrelated Indian families.
Indian journal of dermatology, venereology and leprologyProposing GLMN, encoding glomulin, as a novel gene for Dowling-Degos disease.
The British journal of dermatologyDermatological Enigma Unveiled: A Rare Case Report on Dowling-Degos Disease.
International journal of applied & basic medical researchCancer and hidradenitis suppurativa.
Clinics in dermatologyAn algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.
Clinical and experimental dermatologyClinical Overlaps in Reticulate Pigmentary Disorders: A Study of Three Cases.
CureusGalli-Galli Disease: A Comprehensive Literature Review.
Dermatopathology (Basel, Switzerland)A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
Experimental dermatologyAltered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis.
The British journal of dermatologyFounder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
The Journal of investigative dermatologyInherited Reticulate Pigmentary Disorders.
GenesHaber's Syndrome: A Case Report.
CureusAbout a Rare Association Between Vulvar Dowling Degos Disease and HS.
International journal of women's healthDowling-Degos Disease in the Anogenital Region.
Acta dermatovenerologica Croatica : ADCIn silico modelling of the function of disease-related CAZymes.
Essays in biochemistryFollicular Variant of Acquired Dermal Macular Hyperpigmentation: A Case Report.
CureusKRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.
Experimental dermatologyProgressive cribriform and zosteriform hyperpigmentation: a histologic mimicker of Dowling-Degos disease?
Postepy dermatologii i alergologiiDisseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGAcquired Dermal Macular Hyperpigmentation Mimicking Dowling Degos Disease: A Case Report.
CureusFollicular Dowling-Degos Disease Camouflaged as Comedones: A Case Report and Literature Review.
CureusA case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis.
Journal of the European Academy of Dermatology and Venereology : JEADVFollicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature.
Case reports in dermatologyEvolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans.
Journal of dermatological scienceDowling-Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature.
The American Journal of dermatopathologyNovel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease.
The Journal of dermatologyMiddle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype.
Postepy dermatologii i alergologiiExacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors.
CureusFollicular Dowling Degos Disease with Lichen Planus in Two Siblings: A Rare Association.
Indian dermatology online journalCo-occurrence of Ichthyosis Vulgaris, Dowling-Degos Disease, and Hidradenitis Suppuritiva in Same Patient: An Association or Coincidence?
Indian journal of dermatologyFucosylated Proteome Profiling Identifies a Fucosylated, Non-Ribosomal, Stress-Responsive Species of Ribosomal Protein S3.
CellsFollicular Dowling-Degos Disease and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Chance or Significant Association.
Indian journal of dermatologyPSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease.
Indian dermatology online journalComedonal Lesions on the Trunk and Proximal Extremities: Answer.
The American Journal of dermatopathologyCo-occurrence of Dowling-Degos disease and pemphigus vulgaris.
International journal of dermatologyMultiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment.
International journal of molecular sciencesHidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.
The Journal of clinical and aesthetic dermatologyStructure, function, and pathology of protein O-glucosyltransferases.
Cell death & diseaseDowling-Degos disease: a review.
International journal of dermatologyDiseases related to Notch glycosylation.
Molecular aspects of medicineThe deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa.
American journal of medical genetics. Part AComorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? Reply from the authors.
The British journal of dermatologyComorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence?
The British journal of dermatologyCoexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling.
Chinese medical journalDowling-Degos Disease with Follicular Involvement Associated with Hidradenitis Suppurativa: A Manifestation of Follicular Occlusion Phenomenon?
Indian journal of dermatologyDermoscopy of Follicular Dowling-Degos Disease.
Indian journal of dermatologyA novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.
International journal of dermatologyDowling-Degos Disease with Hidradenitis Suppurativa and Inflammatory Arthritis in Two Generations.
Indian dermatology online journal[Vulvar Dowling-Degos disease].
Annales de dermatologie et de venereologiePleiotropic Role of Notch Signaling in Human Skin Diseases.
International journal of molecular sciencesScrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene.
The Australasian journal of dermatologyAcitretin therapy for Galli-Galli disease.
JAAD case reportsNovel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap?
The British journal of dermatologyNovel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence.
JAAD case reportsGrover disease: review of subtypes with a focus on management options.
International journal of dermatologyDowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring.
Dermatopathology (Basel, Switzerland)Epidermal keratin 5 expression and distribution is under dermal influence.
Pigment cell & melanoma researchPhenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.
American journal of medical genetics. Part ADowling-Degos Disease - A Novel Presentation of An Uncommon Disease.
Indian dermatology online journalA case of hidradenitis suppurativa linked to trisomy 1q.
Journal of the European Academy of Dermatology and Venereology : JEADVAtypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.
The American Journal of dermatopathologyMast cell activation in Dowling-Degos disease.
The British journal of dermatologyClassic Dowling Degos disease: a rare genodermatosis.
Italian journal of dermatology and venereologyDowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.
Acta dermato-venereologicaJust vulval lichen simplex?
Clinical and experimental dermatologyA comparison of physical modalities in Galli-Galli disease: Erbium:YAG laser, Intense Pulsed Light and Electrofulguration.
The Australasian journal of dermatologyVulvar Dyschromia in a Child: A Quiz.
Acta dermato-venereologicaGalli-Galli disease successfully treated with alitretinoin.
Journal of the European Academy of Dermatology and Venereology : JEADVDyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update.
Journal of dermatological scienceA familial case of Dowling-Degos disease on the vulva.
Clinical and experimental dermatologyA Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.
Acta dermato-venereologicaGeneralized Dyschromia and Erythematous Papules in a 66 Year-Old Man: Answer.
The American Journal of dermatopathologyHidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men.
The Journal of dermatologyA case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence?
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaDowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata.
Indian journal of dermatologyReticulate acropigmentation of Kitamura with a novel mutation in ADAM10.
Clinical and experimental dermatologyAltered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
The Journal of investigative dermatologyFull ablative versus fractional ablative laser therapy for Dowling-Degos disease.
Lasers in surgery and medicineComorbidities or different entities? Phenotype variability associated with PSENEN mutations.
The British journal of dermatologyGalli-Galli Disease Presenting as a Lentigo-like Eruption: A Further Clinical Feature in the Wide Spectrum of Reticulate Pigment Disorders.
Acta dermatovenerologica Croatica : ADCVesicular variant of Dowling-Degos disease.
The British journal of dermatologyAtypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.
Clinical and experimental dermatologyWhole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.
Indian journal of dermatology, venereology and leprologyA new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.
Journal of the European Academy of Dermatology and Venereology : JEADVVariant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
GlycobiologyConcurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.
The British journal of dermatologyNovel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder.
The British journal of dermatologyNovel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors.
The British journal of dermatologyFollicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis.
Indian dermatology online journalFunctional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
The British journal of dermatologyGeneralized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge.
Indian journal of dermatology, venereology and leprologyIntra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.
The Journal of investigative dermatology[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway].
Annales de dermatologie et de venereologieA phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
The British journal of dermatologyRecognizing syndromic hidradenitis suppurativa: a review of the literature.
Journal of the European Academy of Dermatology and Venereology : JEADVDowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.
Journal of the European Academy of Dermatology and Venereology : JEADVPSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?
The Journal of investigative dermatologySuccessful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser.
Journal of cutaneous and aesthetic surgeryAcquired progressive hyperpigmentation.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaUpdated review of genetic reticulate pigmentary disorders.
The British journal of dermatologyReticulate Acropigmentation of Kitamura and Nevus of Ito.
Actas dermo-sifiliograficasStructure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.
GlycobiologyMutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
The Journal of clinical investigationNovel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.
Chinese medical journalPathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease.
Journal of the European Academy of Dermatology and Venereology : JEADVAn uncommon presentation of Galli-Galli disease.
Indian journal of dermatology, venereology and leprologyDermoscopy in General Dermatology: A Practical Overview.
Dermatology and therapyMutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
The British journal of dermatologyStructural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.
Nature chemical biologyReticulate Hyperpigmentation of the Flexures.
Actas dermo-sifiliograficas[Clinicopathological aspects of terra firma-forme dermatosis].
Annales de dermatologie et de venereologieAtypical cases of Dowling-Degos disease.
Indian dermatology online journalCoexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease.
Fukuoka igaku zasshi = Hukuoka acta medicaDowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity.
Indian dermatology online journalDermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease.
Indian journal of dermatologyReticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report.
The Journal of dermatologyBehavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura.
Pigment cell & melanoma researchDowling-Degos disease co-presenting with Darier disease.
Clinical and experimental dermatologyDowling-Degos disease and malignant melanoma: Association or mere coincidence?
Indian journal of dermatology, venereology and leprologyProtein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.
PLoS geneticsGenome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.
The British journal of dermatology[Dowling-Degos syndrome].
Medicina clinicaDowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura.
The British journal of dermatologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
- Revisiting classification and genotype-phenotype correlations in Dowling-Degos disease and Galli-Galli disease.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG· 2026· PMID 41854241mais citado
- Reticulated papules beyond the flexures.
- Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.
- When comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease.
- A Closer Look at Dowling-Degos Disease: A Case Report and Quantitative Assessment of Its Surface Texture Parameters.
- A novel likely pathogenic POFUT1 variant in a Turkish family with Dowling-Degos disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79145(Orphanet)
- MONDO:0008371(MONDO)
- GARD:9775(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q7316720(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
