Raras
Buscar doenças, sintomas, genes...
Doença de Dowling-Degos
ORPHA:79145CID-10 · L81.8CID-11 · EC23.0DOENÇA RARA

Doença de pigmentação caracterizada por um padrão reticulado de coloração anormalmente escura da pele, principalmente nas dobras e vincos do corpo.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
239 artigos
Último publicado: 2026 Feb

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
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: L81.8
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧬
Pele e cabelo
12 sintomas
🦴
Ossos e articulações
2 sintomas
🫃
Digestivo
1 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

90%prev.
Hiperpigmentação reticulada progressiva
Muito frequente (99-80%)
55%prev.
Sardas inguinais
Frequente (79-30%)
55%prev.
Hiperceratose
Frequente (79-30%)
55%prev.
Morfologia anormal do pescoço
Frequente (79-30%)
17%prev.
Pápula eritematosa
Ocasional (29-5%)
17%prev.
Mácula hiperpigmentada
Ocasional (29-5%)
33sintomas
Muito frequente (1)
Frequente (3)
Ocasional (12)
Muito raro (9)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.

Hiperpigmentação reticulada progressivaProgressive reticulate hyperpigmentation
Muito frequente (99-80%)90%
Sardas inguinaisInguinal freckling
Frequente (79-30%)55%
HiperceratoseHyperkeratosis
Frequente (79-30%)55%
Morfologia anormal do pescoçoAbnormality of the neck
Frequente (79-30%)55%
Pápula eritematosaErythematous papule
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico239PubMed
Últimos 10 anos141publicações
Pico202119 papers
Linha do tempo
2026Hoje · 2026🧪 2003Primeiro 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.

PSENENGamma-secretase subunit PEN-2Disease-causing germline mutation(s) inRestrito
FUNÇÃO

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,

LOCALIZAÇÃO

Endoplasmic reticulum membraneGolgi apparatus, Golgi stack membraneCell membraneMembrane

VIAS BIOLÓGICAS (10)
Activated NOTCH1 Transmits Signal to the NucleusNOTCH3 Activation and Transmission of Signal to the NucleusNOTCH4 Activation and Transmission of Signal to the NucleusNoncanonical activation of NOTCH3NOTCH2 Activation and Transmission of Signal to the Nucleus
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
189.4 TPM
Tireoide
64.5 TPM
Cervix Endocervix
59.0 TPM
Pituitária
56.5 TPM
Sangue
55.5 TPM
OUTRAS DOENÇAS (2)
acne inversa, familial, 2Dowling-Degos disease
HGNC:30100UniProt:Q9NZ42
POGLUT1Protein O-glucosyltransferase 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Endoplasmic reticulum lumen

VIAS BIOLÓGICAS (1)
Pre-NOTCH Processing in the Endoplasmic Reticulum
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
18.8 TPM
Linfócitos
18.3 TPM
Cervix Ectocervix
17.1 TPM
Cervix Endocervix
16.6 TPM
Baço
16.2 TPM
OUTRAS DOENÇAS (3)
autosomal recessive limb-girdle muscular dystrophy type 2R1Dowling-Degos disease 4Dowling-Degos disease
HGNC:22954UniProt:Q8NBL1
KRT5Keratin, type II cytoskeletal 5Disease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

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)

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (7)
Type I hemidesmosome assemblyKeratinizationFormation of the cornified envelopeDevelopmental Lineage of Mammary Stem CellsDevelopmental Lineage of Mammary Gland Luminal Epithelial Cells
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
7391.8 TPM
Skin Not Sun Exposed Suprapubic
5833.1 TPM
Skin Sun Exposed Lower leg
5020.4 TPM
Vagina
3291.8 TPM
Glândula salivar
340.6 TPM
OUTRAS DOENÇAS (11)
epidermolysis bullosa simplex 2F, with mottled pigmentationepidermolysis bullosa simplex 2B, generalized intermediateepidermolysis bullosa simplex 2E, with migratory circinate erythemaDowling-Degos disease 1
HGNC:6442UniProt:P13647
POFUT1GDP-fucose protein O-fucosyltransferase 1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

Endoplasmic reticulum

VIAS BIOLÓGICAS (1)
Pre-NOTCH Processing in the Endoplasmic Reticulum
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
54.3 TPM
Cervix Endocervix
27.8 TPM
Aorta
27.8 TPM
Ovário
27.2 TPM
Útero
26.9 TPM
OUTRAS DOENÇAS (2)
Dowling-Degos disease 2Dowling-Degos disease
HGNC:14988UniProt:Q9H488

Variantes genéticas (ClinVar)

212 variantes patogênicas registradas no ClinVar.

🧬 POFUT1: NM_015352.2(POFUT1):c.428A>G (p.Lys143Arg) ()
🧬 POFUT1: NM_015352.2(POFUT1):c.203C>G (p.Pro68Arg) ()
🧬 POFUT1: NM_015352.2(POFUT1):c.246+5del ()
🧬 POFUT1: NM_015352.2(POFUT1):c.397C>T (p.Arg133Ter) ()
🧬 POFUT1: NM_015352.2(POFUT1):c.246+4A>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 109 variantes classificadas pelo ClinVar.

11
60
38
Patogênica (10.1%)
VUS (55.0%)
Benigna (34.9%)
VARIANTES MAIS SIGNIFICATIVAS
KRT5: NM_000424.4(KRT5):c.1219-20_1229del [Likely pathogenic]
KRT5: NM_000424.4(KRT5):c.1219_1229del (p.Cys407fs) [Likely pathogenic]
POFUT1: NM_015352.2(POFUT1):c.601G>A (p.Val201Ile) [Uncertain significance]
POFUT1: NM_015352.2(POFUT1):c.785T>C (p.Met262Thr) [Uncertain significance]
POFUT1: NM_015352.2(POFUT1):c.1018G>A (p.Asp340Asn) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

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Publicações mais relevantes

Timeline de publicações
127 papers (10 anos)
#1

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

The Journal of dermatology2026 Feb

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.

#2

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 : JDDG2026 Mar 19
#3

Reticulated papules beyond the flexures.

JAAD case reports2026 Feb
#4

Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.

Clinical and experimental dermatology2026 Jan 13
#5

When comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease.

Anais brasileiros de dermatologia2026

Publicações recentes

Ver todas no PubMed

📚 EuropePMC179 artigos no totalmostrando 140

2026

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

Reticulated papules beyond the flexures.

JAAD case reports
2026

Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.

Clinical and experimental dermatology
2026

When comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease.

Anais brasileiros de dermatologia
2026

Co-occurrence of Dowling-Degos Disease and Hidradenitis Suppurativa: An Exploratory Study.

Actas dermo-sifiliograficas
2025

Dowling-Degos Disease with Multiple Seborrheic Keratosis: An Atypical Presentation in Two Siblings.

Indian dermatology online journal
2025

Progressive scattered and reticular pigmentation lesions.

JAAD case reports
2026

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

The Journal of dermatology
2025

A case of late-onset Dowling-Degos disease with hidradenitis suppurativa.

JAAD case reports
2025

Reticulate acropigmentation of Kitamura with café-au-lait macules: a rare case report.

Frontiers in medicine
2025

Hidradenitis Suppurativa with Dowling-Degos Disease Associated with KRT14 Mutation in an Indian Family.

Indian dermatology online journal
2025

Beneath the surface: delineating the subtypes of Dowling-Degos disease.

The British journal of dermatology
2025

Unraveling Dowling-Degos Disease: A Rare Skin Disorder.

Clinical case reports
2025

Dowling-Degos disease in a 23-year-old Jordanian male: a case report.

Journal of medical case reports
2025

Oral tofacitinib for generalized Dowling-Degos disease with refractory pruritus: a case report.

The Journal of dermatological treatment
2025

PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations.

Frontiers in medicine
2025

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

JID innovations : skin science from molecules to population health
2025

Pathogenic variants in PSENEN and NCSTN genes cause 'follicular' Dowling-Degos disease: Report of five unrelated Indian families.

Indian journal of dermatology, venereology and leprology
2025

Proposing GLMN, encoding glomulin, as a novel gene for Dowling-Degos disease.

The British journal of dermatology
2024

Dermatological Enigma Unveiled: A Rare Case Report on Dowling-Degos Disease.

International journal of applied &amp; basic medical research
2024

Cancer and hidradenitis suppurativa.

Clinics in dermatology
2024

An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.

Clinical and experimental dermatology
2024

Clinical Overlaps in Reticulate Pigmentary Disorders: A Study of Three Cases.

Cureus
2024

Galli-Galli Disease: A Comprehensive Literature Review.

Dermatopathology (Basel, Switzerland)
2023

A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.

Experimental dermatology
2023

Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis.

The British journal of dermatology
2024

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.

The Journal of investigative dermatology
2023

Inherited Reticulate Pigmentary Disorders.

Genes
2023

Haber's Syndrome: A Case Report.

Cureus
2023

About a Rare Association Between Vulvar Dowling Degos Disease and HS.

International journal of women's health
2022

Dowling-Degos Disease in the Anogenital Region.

Acta dermatovenerologica Croatica : ADC
2023

In silico modelling of the function of disease-related CAZymes.

Essays in biochemistry
2023

Follicular Variant of Acquired Dermal Macular Hyperpigmentation: A Case Report.

Cureus
2023

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.

Experimental dermatology
2022

Progressive cribriform and zosteriform hyperpigmentation: a histologic mimicker of Dowling-Degos disease?

Postepy dermatologii i alergologii
2022

Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2022

Acquired Dermal Macular Hyperpigmentation Mimicking Dowling Degos Disease: A Case Report.

Cureus
2022

Follicular Dowling-Degos Disease Camouflaged as Comedones: A Case Report and Literature Review.

Cureus
2022

A 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 : JEADV
2021

Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature.

Case reports in dermatology
2022

Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans.

Journal of dermatological science
2022

Dowling-Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature.

The American Journal of dermatopathology
2021

Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease.

The Journal of dermatology
2021

Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype.

Postepy dermatologii i alergologii
2021

Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors.

Cureus
2021

Follicular Dowling Degos Disease with Lichen Planus in Two Siblings: A Rare Association.

Indian dermatology online journal
2021

Co-occurrence of Ichthyosis Vulgaris, Dowling-Degos Disease, and Hidradenitis Suppuritiva in Same Patient: An Association or Coincidence?

Indian journal of dermatology
2021

Fucosylated Proteome Profiling Identifies a Fucosylated, Non-Ribosomal, Stress-Responsive Species of Ribosomal Protein S3.

Cells
2021

Follicular Dowling-Degos Disease and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Chance or Significant Association.

Indian journal of dermatology
2021

PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease.

Indian dermatology online journal
2021

Comedonal Lesions on the Trunk and Proximal Extremities: Answer.

The American Journal of dermatopathology
2021

Co-occurrence of Dowling-Degos disease and pemphigus vulgaris.

International journal of dermatology
2021

Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment.

International journal of molecular sciences
2020

Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.

The Journal of clinical and aesthetic dermatology
2021

Structure, function, and pathology of protein O-glucosyltransferases.

Cell death &amp; disease
2021

Dowling-Degos disease: a review.

International journal of dermatology
2021

Diseases related to Notch glycosylation.

Molecular aspects of medicine
2020

The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa.

American journal of medical genetics. Part A
2021

Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? Reply from the authors.

The British journal of dermatology
2021

Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence?

The British journal of dermatology
2020

Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling.

Chinese medical journal
2020

Dowling-Degos Disease with Follicular Involvement Associated with Hidradenitis Suppurativa: A Manifestation of Follicular Occlusion Phenomenon?

Indian journal of dermatology
2020

Dermoscopy of Follicular Dowling-Degos Disease.

Indian journal of dermatology
2021

A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.

International journal of dermatology
2020

Dowling-Degos Disease with Hidradenitis Suppurativa and Inflammatory Arthritis in Two Generations.

Indian dermatology online journal
2020

[Vulvar Dowling-Degos disease].

Annales de dermatologie et de venereologie
2020

Pleiotropic Role of Notch Signaling in Human Skin Diseases.

International journal of molecular sciences
2020

Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene.

The Australasian journal of dermatology
2020

Acitretin therapy for Galli-Galli disease.

JAAD case reports
2020

Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap?

The British journal of dermatology
2020

Novel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence.

JAAD case reports
2020

Grover disease: review of subtypes with a focus on management options.

International journal of dermatology
2019

Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring.

Dermatopathology (Basel, Switzerland)
2020

Epidermal keratin 5 expression and distribution is under dermal influence.

Pigment cell &amp; melanoma research
2019

Phenotypic 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 A
2019

Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease.

Indian dermatology online journal
2019

A case of hidradenitis suppurativa linked to trisomy 1q.

Journal of the European Academy of Dermatology and Venereology : JEADV
2020

Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.

The American Journal of dermatopathology
2019

Mast cell activation in Dowling-Degos disease.

The British journal of dermatology
2021

Classic Dowling Degos disease: a rare genodermatosis.

Italian journal of dermatology and venereology
2019

Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.

Acta dermato-venereologica
2020

Just vulval lichen simplex?

Clinical and experimental dermatology
2019

A comparison of physical modalities in Galli-Galli disease: Erbium:YAG laser, Intense Pulsed Light and Electrofulguration.

The Australasian journal of dermatology
2019

Vulvar Dyschromia in a Child: A Quiz.

Acta dermato-venereologica
2019

Galli-Galli disease successfully treated with alitretinoin.

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

Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update.

Journal of dermatological science
2019

A familial case of Dowling-Degos disease on the vulva.

Clinical and experimental dermatology
2019

A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.

Acta dermato-venereologica
2019

Generalized Dyschromia and Erythematous Papules in a 66 Year-Old Man: Answer.

The American Journal of dermatopathology
2019

Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men.

The Journal of dermatology
2018

A 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 sifilografia
2018

Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata.

Indian journal of dermatology
2019

Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10.

Clinical and experimental dermatology
2019

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

The Journal of investigative dermatology
2019

Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.

Lasers in surgery and medicine
2019

Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.

The British journal of dermatology
2017

Galli-Galli Disease Presenting as a Lentigo-like Eruption: A Further Clinical Feature in the Wide Spectrum of Reticulate Pigment Disorders.

Acta dermatovenerologica Croatica : ADC
2018

Vesicular variant of Dowling-Degos disease.

The British journal of dermatology
2018

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.

Clinical and experimental dermatology
2018

Whole 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 leprology
2018

A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.

Journal of the European Academy of Dermatology and Venereology : JEADV
2018

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Glycobiology
2018

Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.

The British journal of dermatology
2018

Novel 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 dermatology
2018

Novel 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 dermatology
2017

Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis.

Indian dermatology online journal
2017

Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.

The British journal of dermatology
2018

Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge.

Indian journal of dermatology, venereology and leprology
2018

Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.

The Journal of investigative dermatology
2017

[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway].

Annales de dermatologie et de venereologie
2018

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.

The British journal of dermatology
2017

Recognizing syndromic hidradenitis suppurativa: a review of the literature.

Journal of the European Academy of Dermatology and Venereology : JEADV
2018

Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.

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

PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?

The Journal of investigative dermatology
2017

Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser.

Journal of cutaneous and aesthetic surgery
2017

Acquired progressive hyperpigmentation.

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
2017

Updated review of genetic reticulate pigmentary disorders.

The British journal of dermatology
2017

Reticulate Acropigmentation of Kitamura and Nevus of Ito.

Actas dermo-sifiliograficas
2017

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.

Glycobiology
2017

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

The Journal of clinical investigation
2016

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Chinese medical journal
2016

Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease.

Journal of the European Academy of Dermatology and Venereology : JEADV
2016

An uncommon presentation of Galli-Galli disease.

Indian journal of dermatology, venereology and leprology
2016

Dermoscopy in General Dermatology: A Practical Overview.

Dermatology and therapy
2017

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

The British journal of dermatology
2016

Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.

Nature chemical biology
2016

Reticulate Hyperpigmentation of the Flexures.

Actas dermo-sifiliograficas
2016

[Clinicopathological aspects of terra firma-forme dermatosis].

Annales de dermatologie et de venereologie
2016

Atypical cases of Dowling-Degos disease.

Indian dermatology online journal
2016

Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease.

Fukuoka igaku zasshi = Hukuoka acta medica
2016

Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity.

Indian dermatology online journal
2016

Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease.

Indian journal of dermatology
2016

Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report.

The Journal of dermatology
2016

Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura.

Pigment cell &amp; melanoma research
2016

Dowling-Degos disease co-presenting with Darier disease.

Clinical and experimental dermatology
2015

Dowling-Degos disease and malignant melanoma: Association or mere coincidence?

Indian journal of dermatology, venereology and leprology
2015

Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.

PLoS genetics
2016

Genome-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
2015

[Dowling-Degos syndrome].

Medicina clinica
2015

Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura.

The British journal of dermatology
Ver todos os 179 no EuropePMC

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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. Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
    The Journal of dermatology· 2026· PMID 41127964mais citado
  2. 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
  3. Reticulated papules beyond the flexures.
    JAAD case reports· 2026· PMID 41657526mais citado
  4. Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation.
    Clinical and experimental dermatology· 2026· PMID 41530906mais citado
  5. When comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease.
    Anais brasileiros de dermatologia· 2026· PMID 41483502mais citado
  6. A Closer Look at Dowling-Degos Disease: A Case Report and Quantitative Assessment of Its Surface Texture Parameters.
    Cureus· 2026· PMID 41890462recente
  7. A novel likely pathogenic POFUT1 variant in a Turkish family with Dowling-Degos disease.
    J Dtsch Dermatol Ges· 2026· PMID 41885246recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79145(Orphanet)
  2. MONDO:0008371(MONDO)
  3. GARD:9775(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Doença de Dowling-Degos
Compêndio · Raras BR

Doença de Dowling-Degos

ORPHA:79145 · MONDO:0008371
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
L81.8 · Outros transtornos especificados da pigmentação
CID-11
Início
Adolescent, Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0406811
EuropePMC
Wikidata
Wikipedia
Papers 10a
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