Piebaldismo é uma condição rara de pele que a pessoa já nasce com ela, e afeta a coloração. Ela é caracterizada por manchas na pele com pouca ou nenhuma cor (manchas brancas), que podem aparecer em várias partes do corpo. Essas manchas são mais comuns na testa, peito, barriga, na parte de cima dos braços e nas pernas. Geralmente, a condição também está associada a uma mecha de cabelo branca na testa. Em alguns casos, as sobrancelhas e os cílios também podem ter pouca ou nenhuma cor.
Introdução
O que você precisa saber de cara
Piebaldismo é uma condição rara de pele que a pessoa já nasce com ela, e afeta a coloração. Ela é caracterizada por manchas na pele com pouca ou nenhuma cor (manchas brancas), que podem aparecer em várias partes do corpo. Essas manchas são mais comuns na testa, peito, barriga, na parte de cima dos braços e nas pernas. Geralmente, a condição também está associada a uma mecha de cabelo branca na testa. Em alguns casos, as sobrancelhas e os cílios também podem ter pouca ou nenhuma cor.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box
NucleusCytoplasm
Waardenburg syndrome 2D
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulator
Cell membraneCytoplasm
Piebald trait
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
Variantes genéticas (ClinVar)
367 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 196 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
24 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 — Piebaldismo
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
17 ensaios clínicos encontrados.
Publicações mais relevantes
Role of KIT signaling in ovarian development and function: Insights from multisystem biology.
KIT signaling is a fundamental regulatory pathway that preserves cellular homeostasis and controls cell development and fate across a wide range of organs and cell types. Consistent with this pleiotropic role, mutations in c-KIT/Kit have been associated with a wide range of phenotypes, including sterility, piebaldism, nevus formation, mastocytosis, and multiple malignancies. The contribution of c-KIT/Kit to reproductive function has attracted sustained attention for several decades, underscoring its essential role in fertility and gonadal biology. KIT expression is observed in oocytes - localized to the oocyte membrane and the cytoplasm - as well as in theca cells and interstitial cells, suggesting a multifaceted role in follicular development. Notably, all Kit mutant models develop primary ovarian insufficiency (POI) with variable onset, characterized by endocrine dysfunction, impaired folliculogenesis, and eventual female infertility. These findings collectively establish KIT signaling as a critical regulator of ovarian integrity, as both gain- or loss-of-function mutations in Kit consistently recapitulate POI-associated phenotypes. However, despite substantial progress, the precise molecular mechanisms by which KIT signaling integrates these pathways to preserve primordial follicle survival and prevent POI remain incompletely understood. Here, we summarize current knowledge of KIT expression and the functional consequences of Kit mutations, with particular emphasis on oocytes across ovarian cell populations and in comparison to other organ systems in humans and mice. We further evaluate the physiological and pathological significance of ovarian KIT signaling in female fertility and highlight crucial knowledge gaps that must be addressed to fully elucidate its role in maintaining ovarian function.
Aberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.
While pigmentation disorders such as albinism have been documented in a range of elasmobranch species, including the American cownose ray (Rhinoptera bonasus), the implications of these rare conditions for behavior, social dynamics, and fitness remain speculative and unverified. Here, we report a case of aberrant pigmentation in a single cownose ray observed schooling among conspecifics in the nearshore waters of Chesapeake Bay, Virginia, USA. The individual displayed pronounced white coloration against a notably dark dorsal surface of both pectoral fins, contrasting sharply with the otherwise uniform brown tones of the surrounding rays. The ray was fully integrated into the school and exhibited no abnormal behavior, suggesting that this pigmentation anomaly did not disrupt social dynamics. This observation augments the small but growing number of reports of pigmentation disorders in R. bonasus, suggesting that important social acceptances required for incorporation into the aggregation were unimpeded by the aberrant pigmentation.
Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
Griscelli syndrome (GS) is a rare autosomal recessive disorder marked by partial oculocutaneous albinism, immunodeficiency, and neurological issues. It has 3 types based on genetic mutations. This report focuses on a patient with GS type 2, characterized by immune abnormalities and neurological symptoms, with only 160 cases documented globally. A 1-year-old boy presented with hyperthermia, diarrhea, and vomiting, revealing hypopigmented skin and silvery-gray hair. He exhibited tachycardia, abdominal distension, hepatosplenomegaly, and signs of immunocompromise. Neurologically, he showed developmental delays and hyperreflexia. Lab tests indicated anemia, thrombocytopenia, and elevated triglycerides. Based on clinical history and laboratory tests diagnosed with GS type 2. The patient received symptomatic treatment, antibiotics, and frequent transfusions, with strict infection prevention due to limited resources for stem cell transplantation. GS, identified in 1978, is a rare autosomal recessive disorder marked by partial albinism and immunodeficiency, with around 160 cases primarily from the Mediterranean. It comprises 3 types: GS1, GS2, and GS3, each with unique genetic and clinical features. GS1 exhibits partial albinism and neurological issues without immune effects due to MYO5A mutations. GS2 presents severe immunodeficiency and risks such as hemophagocytic lymphohistiocytosis linked to RAB27A mutations. GS3, caused by melanophilin gene mutations, has a better prognosis. Diagnosis involves hair microscopy and genetic testing, and while supportive treatments exist, early diagnosis is vital for improved outcomes. GS is a rare genetic disorder with varied symptoms, categorized into 3 types, requiring genetic testing for diagnosis and treatment ranging from management to stem cell transplantation.
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.
Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
Griscelli syndrome (GS) is an uncommon disorder characterized by partial albinism, which gives hair a silvery-grey sheen and variable immunodeficiency or neurological impairment, with pancytopenia, immune dysfunction, hepatosplenomegaly, neurological impairment, hypogammaglobulinemia, and variable cellular immunodeficiency. Three variants GS1, GS2 and GS3 have been described in different phenotypes of the disease with varying presentation. We present two neonates, born two years apart, to parents with third-degree consanguinity. Both had features of partial albinism and neutropenia at birth. Microscopy of hair showed characteristic large aggregates of pigment granules dispersed irregularly along the hair shaft. Given their family history and high clinical suspicion, a diagnosis of Griscelli syndrome was made. Early diagnosis of Griscelli syndrome can offer treatment options like Bone Marrow Transplant and prevent fatal complications like hemophagocytic lymphohistiocytosis. Supportive management during transplantation comprises of antimicrobial therapy, immunoglobulin replacement, and vigilant monitoring for complications like graft versus host disease.
Publicações recentes
Improving the diagnosis of renal tumours of young people through integrated molecular analysis.
Role of KIT signaling in ovarian development and function: Insights from multisystem biology.
Aberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.
Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.
Punch grafting for necrotising fasciitis: a case report.
📚 EuropePMC160 artigos no totalmostrando 141
Role of KIT signaling in ovarian development and function: Insights from multisystem biology.
Biology of reproductionGriscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
JNMA; journal of the Nepal Medical AssociationAberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.
Ecology and evolutionGriscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
MedicineTopical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.
Pharmaceuticals (Basel, Switzerland)Punch grafting for necrotising fasciitis: a case report.
Journal of wound careGenetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
The Journal of dermatologyCase Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.
Frontiers in immunologyPiebaldism: 3 cases in African children, including two twin sisters.
Annales de dermatologie et de venereologieThe Phenomenon of Piebaldism in Sharks: A Review of Global Sightings and Patterns.
Ecology and evolution[Translated article] Piebaldism.
Actas dermo-sifiliograficasRapid Complete Repigmentation in Piebaldism Using Noncultured Epidermal Cell Suspension.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Ultrastructural studies distinguish skin diversities among Galápagos iguanas.
Biology directGriscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
The Turkish journal of pediatricsShadows in the forest: Uncovering unusual colouration records in mammals from the Ecuadorian Tropical Andes.
Biodiversity data journalGriscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Journal of clinical immunologySustained Repigmentation in Vitiligo and Leukodermas Using Melanocyte-Keratinocyte Transplantation: 7 Years of Data.
Clinical, cosmetic and investigational dermatologyEarly diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyDiagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.
BloodAllogeneic stem cell transplant in primary hemophagocytic lymphohistiocytosis - a single-center experience.
Annals of hematologyLong-term observation of a piebald patient showing pigmentation within leukoderma.
European journal of dermatology : EJDNovel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.
Journal of clinical laboratory analysisEvaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.
PloS oneKIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report.
Clinical, cosmetic and investigational dermatologyNovel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population.
Journal of clinical research in pediatric endocrinologyComparative outcomes of autologous cultured melanocytes transplantation and non-cultured epidermal cell suspension transplantation in piebaldism patients: A retrospective study.
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)Griscelli Syndrome Type 2 Presenting with Isolated Neurologic Disorder.
Neurology IndiaSuccessful haploidentical bone marrow transplantation in Griscelli syndrome type 2 with non-busulfan-based regimen and post-transplantation cyclophosphamide: a case report and review of the literature.
Pediatric hematology and oncology[Acute cerebellar ataxia in Griscelli syndrome type 2].
Revista de neurologiaLesional CD8+ T-Cell Number Predicts Surgical Outcomes of Melanocyte-Keratinocyte Transplantation Surgery for Vitiligo.
The Journal of investigative dermatology[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].
HarefuahMolecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Scandinavian journal of immunologyPiebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.
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)Recipient-to-Donor Ratios in the Surgical Treatment of Vitiligo, Leukoderma, and Piebaldism: A Retrospective Review.
Dermatology (Basel, Switzerland)First record of partial albinism in the critically endangered Angelshark (Squatina squatina) (Linnaeus, 1758).
Journal of fish biologyKIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.
Indian dermatology online journalPiebaldism and chromatophore development in reptiles are linked to the tfec gene.
Current biology : CBGriscelli syndrome type 1: a novel pathogenic variant, and review of literature.
Molecular genetics and genomics : MGGOculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
GenesMeek micrografting, a novel surgical technique for the treatment of vitiligo and piebaldism: A case series.
Journal of the European Academy of Dermatology and Venereology : JEADVGriscelli Syndrome Type 1: Hair Microscopy Clinches the Diagnosis.
Indian journal of pediatricsNovel pathogenic variants in KIT gene in three Chinese piebaldism patients.
Frontiers in medicineNeonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2.
Iranian journal of allergy, asthma, and immunologyObservations of hypomelanosis in the nurse shark Ginglymostoma cirratum.
Journal of fish biologyAssessing the Activation of Tyrosine Kinase KIT through Free Energy Calculations.
Journal of chemical theory and computationBiallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Journal of the European Academy of Dermatology and Venereology : JEADVReverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish.
Journal of visualized experiments : JoVEThe First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
Annals of laboratory medicineMYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.
Genes[Waardenburg's Syndrome Type IIA with Partial Albinism].
Klinische Monatsblatter fur AugenheilkundeNovel retinal finding in a patient with 4q12 deletion.
Ophthalmic geneticsPiebaldism resulting from a novel deletion mutation of KIT gene in a five-generation Chinese family.
Clinical and experimental dermatologyNaa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway.
eLifeThe investigation on allelic, genotypic frequencies and gene expression study in coding region of tyrosinase gene in Deoni cattle breed of western India.
Animal biotechnologyAssessment of Non-cultured Autologous Epidermal Cell Grafting Resuspended in Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism Lesions: A Randomized Clinical Trial.
Acta dermato-venereologicaExploiting within-breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation-related traits, stature and udder defects in cattle.
Animal geneticsSuccessful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
BMC pediatricsDevelopment, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells.
Stem cell research & therapyDelayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure.
Pediatric hematology and oncologyRepigmentation of White Forelock in a Familial Case of Piebaldism Reported via Teledermatology in the COVID-19 Era.
Skin appendage disordersDiagnostic and therapeutic caveats in Griscelli syndrome.
Scandinavian journal of immunologyDonor to recipient ratios in the surgical treatment of vitiligo and piebaldism: a systematic review.
Journal of the European Academy of Dermatology and Venereology : JEADVGriscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Frontiers in immunologyA novel c.2326G>A KIT pathogenic variant in piebaldism.
American journal of translational researchReport of two Japanese patients with piebaldism including a novel mutation in KIT.
The Journal of dermatologyDoes SNAI2 mutation cause human piebaldism and Waardenburg syndrome?
American journal of medical genetics. Part ACutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.
Pediatric dermatologyA Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism.
Acta dermatovenerologica Croatica : ADCPartial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.
Scandinavian journal of immunologyNovel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.
The Journal of dermatologyA founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
American journal of medical genetics. Part AStriking contiguous depigmentation across the lower limbs in piebaldism, its implications for understanding melanocytic migration, development.
Pediatric dermatologyHair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.
Journal of the European Academy of Dermatology and Venereology : JEADVConsidering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.
Pediatric blood & cancerCase series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis.
The Netherlands journal of medicineHemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.
Journal of pediatric hematology/oncologyImpact of graft cell density and viability on repigmentation upon noncultured autologous cell suspension transplantation in vitiligo and piebaldism.
Clinical and experimental dermatologyHematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.
Bone marrow transplantationGenetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.
Clinical and experimental dermatologyKIT-related piebaldism in a Chinese girl.
American journal of medical genetics. Part AIdentification of kit-ligand a as the Gene Responsible for the Medaka Pigment Cell Mutant few melanophore.
G3 (Bethesda, Md.)Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.
International journal of dermatologyPiebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature.
Annals of dermatologyAnakinra as an agent to control hemophagocytic lymphohistiocytosis in Griscelli type 2.
Pediatric blood & cancerFirst record of pigmentation disorder in the Fringe-lipped Bat Trachops cirrhosus (Spix, 1823) (Chiroptera: Phyllostomidae) from southeast Brazil.
Biodiversity data journalFirst record of atypical pigmentation pattern in fin whale Balaenoptera physalus in the Atlantic Ocean.
Diseases of aquatic organismsA novel KIT mutation in a family with expanded syndrome of piebaldism.
JAAD case reportsCongenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.
Medicina (Kaunas, Lithuania)Melanocyte lineage cells in piebald skin.
The Journal of dermatologyGriscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.
Journal of pediatric hematology/oncologyGriscelli syndrome type 2.
QJM : monthly journal of the Association of PhysiciansStriking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.
Pediatric dermatologyHematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.
Indian journal of pathology & microbiologyCongenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
Medicina (Kaunas, Lithuania)Extending the Mathematical Palette for Developmental Pattern Formation: Piebaldism.
Bulletin of mathematical biologyBiology of human melanocyte development, Piebaldism, and Waardenburg syndrome.
Pediatric dermatology[Griscelli syndrome type 3: A new case].
Annales de dermatologie et de venereologieUsefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.
Pediatric dermatologyOral features of Griscelli syndrome type II: A rare case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistrySilvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.
Journal of cutaneous pathology[Analysis of KIT mutations in five patients from two Han Chinese pedigrees affected with Piebaldism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMacrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.
The Pan African medical journalPiebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.
JAAD case reportsIn-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response.
Journal of dermatological scienceA RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
The Journal of allergy and clinical immunologyAn interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.
European journal of dermatology : EJDNovel KIT Missense Mutation P665S in a Chinese Piebaldism Family.
Annals of dermatology[Piebaldisme: a rare genodermatosis].
The Pan African medical journalHematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.
Pediatric transplantationAnalogs of human genetic skin disease in domesticated animals.
International journal of women's dermatologyAssociation of Piebaldism with Café-au-Lait Macules.
SkinmedGriscelli syndrome: A rare disorder.
Neurology IndiaA RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Human mutationMutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.
World journal of pediatrics : WJPAutologous cell suspension grafting in segmental vitiligo and piebaldism: a randomized controlled trial comparing full surface and fractional CO2 laser recipient-site preparations.
The British journal of dermatologyPresentations, Signs of Activity, and Differential Diagnosis of Vitiligo.
Dermatologic clinics[Piebaldism: a pigmentary anomaly to recognize: about a case and review of the literature].
The Pan African medical journalCellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).
PloS onePiebaldism in History-"The Zebra People".
JAMA dermatologyDepigmented patches, mild scaling on newborn · Dx?
The Journal of family practice[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHaemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome.
British journal of haematologyFurther evidence for genotype-phenotype disparity in Griscelli syndrome.
The British journal of dermatologyUse of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Skin Regeneration Symposium Cambridge, 12-13 April 2016.
Regenerative medicineOptimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial.
The Journal of dermatological treatmentPARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.
Genetic counseling (Geneva, Switzerland)Boy with silvery grey hair and immunodeficiency.
Journal of paediatrics and child healthA case of piebaldism in a two-year-old female infant.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaA novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
The Journal of allergy and clinical immunologyGriscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
Indian journal of pathology & microbiologySevere anemia due to parvovirus B19 in a silver haired boy.
Indian journal of pathology & microbiologyOptimization of cerebellar purkinje neuron cultures and development of a plasmid-based method for purkinje neuron-specific, miRNA-mediated protein knockdown.
Methods in cell biologyGriscelli Syndrome Type 3: Two New Cases and Review of the Literature.
Pediatric dermatologyNepal after the disaster. Insider points of view for the future of critical care medicine.
American journal of respiratory and critical care medicineAutologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study.
Journal of the American Academy of DermatologyA novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.
Therapeutics and clinical risk managementMolecular characterization of piebaldism in a Tunisian family.
Pathologie-biologieSystemic conditions in children associated with pigmentary changes.
Clinics in dermatologySeizure as the presenting manifestation in Griscelli syndrome type 2.
Pediatric neurologySpontaneous repigmentation in an infant with piebaldism.
International journal of dermatologyAssociações
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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.
- Role of KIT signaling in ovarian development and function: Insights from multisystem biology.
- Aberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.
- Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
- Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
- Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
- Improving the diagnosis of renal tumours of young people through integrated molecular analysis.
- Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.
- Punch grafting for necrotising fasciitis: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2884(Orphanet)
- OMIM OMIM:172800(OMIM)
- MONDO:0008244(MONDO)
- GARD:4344(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1516083(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
