Raras
Buscar doenças, sintomas, genes...
Piebaldismo
ORPHA:2884CID-10 · E70.3CID-11 · EC23.2YOMIM 172800DOENÇA RARA

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.

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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.

Publicações científicas
254 artigos
Último publicado: 2026 Apr 3

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
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E70.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
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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

🧠
Neurológico
4 sintomas
🧬
Pele e cabelo
3 sintomas
👂
Ouvidos
2 sintomas
😀
Face
2 sintomas
👁️
Olhos
2 sintomas
🫃
Digestivo
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

90%prev.
Hipopigmentação do cabelo
Muito frequente (99-80%)
90%prev.
Mecha de cabelo branca
Muito frequente (99-80%)
90%prev.
Piebaldismo
Muito frequente (99-80%)
55%prev.
Cílios brancos
Frequente (79-30%)
55%prev.
Mácula
Frequente (79-30%)
55%prev.
Sobrancelha branca
Frequente (79-30%)
24sintomas
Muito frequente (3)
Frequente (4)
Ocasional (12)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

Hipopigmentação do cabeloHypopigmentation of hair
Muito frequente (99-80%)90%
Mecha de cabelo brancaWhite forelock
Muito frequente (99-80%)90%
PiebaldismoPiebaldism
Muito frequente (99-80%)90%
Cílios brancosWhite eyelashes
Frequente (79-30%)55%
MáculaMacule
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico254PubMed
Últimos 10 anos148publicações
Pico202017 papers
Linha do tempo
2026Hoje · 2026🧪 2000Primeiro ensaio clínico📈 2020Ano 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

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

SNAI2Zinc finger protein SNAI2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (3)
Regulation of PTEN gene transcriptionNegative Regulation of CDH1 Gene TranscriptionTranscriptional and post-translational regulation of MITF-M expression and activity
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
224.3 TPM
Cervix Ectocervix
98.7 TPM
Vagina
86.7 TPM
Cervix Endocervix
79.2 TPM
Fallopian Tube
70.9 TPM
OUTRAS DOENÇAS (2)
piebaldismWaardenburg syndrome type 2
HGNC:11094UniProt:O43623
KITMast/stem cell growth factor receptor KitDisease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneCytoplasm

VIAS BIOLÓGICAS (5)
Developmental Lineage of Mammary Gland Luminal Epithelial CellsDevelopmental Lineage of Mammary Gland Alveolar CellsTFAP2 (AP-2) family regulates transcription of growth factors and their receptorsSignaling by SCF-KITRegulation of KIT signaling
MECANISMO DE DOENÇA

Piebald trait

Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Muscular
44.5 TPM
Ovário
36.4 TPM
Esôfago - Junção
35.3 TPM
Cérebro - Hemisfério cerebelar
29.8 TPM
Tireoide
28.1 TPM
OUTRAS DOENÇAS (21)
gastrointestinal stromal tumorcutaneous mastocytosisacute myeloid leukemiapiebaldism
HGNC:6342UniProt:P10721

Variantes genéticas (ClinVar)

367 variantes patogênicas registradas no ClinVar.

🧬 KIT: NM_000222.3(KIT):c.620-2A>G ()
🧬 KIT: NM_000222.3(KIT):c.2307del (p.Leu769fs) ()
🧬 KIT: NM_000222.3(KIT):c.438T>A (p.Tyr146Ter) ()
🧬 KIT: NM_000222.3(KIT):c.1801G>A (p.Gly601Arg) ()
🧬 KIT: NM_000222.3(KIT):c.2306dup (p.Leu769fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 196 variantes classificadas pelo ClinVar.

98
98
Patogênica (50.0%)
VUS (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
KIT: NM_000222.3(KIT):c.2424T>G (p.Ile808Met) [Pathogenic]
KIT: NM_000222.3(KIT):c.1880-1G>A [Pathogenic]
KIT: NM_000222.3(KIT):c.1647G>C (p.Gln549His) [Likely pathogenic]
KIT: NM_000222.3(KIT):c.745_746del (p.Glu249fs) [Likely pathogenic]
KIT: NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado3
3Fase 31
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Piebaldismo

🗺️

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

17 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
81 papers (10 anos)
#1

Role of KIT signaling in ovarian development and function: Insights from multisystem biology.

Biology of reproduction2026 Mar 13

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.

#2

Aberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.

Ecology and evolution2026 Jan

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.

#3

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.

Medicine2026 Jan 02

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.

#4

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.

#5

Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.

JNMA; journal of the Nepal Medical Association2025 Dec

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

Ver todas no PubMed

📚 EuropePMC160 artigos no totalmostrando 141

2026

Role of KIT signaling in ovarian development and function: Insights from multisystem biology.

Biology of reproduction
2025

Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.

JNMA; journal of the Nepal Medical Association
2026

Aberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.

Ecology and evolution
2026

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.

Medicine
2025

Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.

Pharmaceuticals (Basel, Switzerland)
2025

Punch grafting for necrotising fasciitis: a case report.

Journal of wound care
2026

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

The Journal of dermatology
2025

Case 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 immunology
2025

Piebaldism: 3 cases in African children, including two twin sisters.

Annales de dermatologie et de venereologie
2025

The Phenomenon of Piebaldism in Sharks: A Review of Global Sightings and Patterns.

Ecology and evolution
2025

[Translated article] Piebaldism.

Actas dermo-sifiliograficas
2025

Rapid Complete Repigmentation in Piebaldism Using Noncultured Epidermal Cell Suspension.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2025

Ultrastructural studies distinguish skin diversities among Galápagos iguanas.

Biology direct
2024

Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.

The Turkish journal of pediatrics
2024

Shadows in the forest: Uncovering unusual colouration records in mammals from the Ecuadorian Tropical Andes.

Biodiversity data journal
2024

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Journal of clinical immunology
2024

Sustained Repigmentation in Vitiligo and Leukodermas Using Melanocyte-Keratinocyte Transplantation: 7 Years of Data.

Clinical, cosmetic and investigational dermatology
2024

Early 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 Immunology
2024

Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.

Blood
2024

Allogeneic stem cell transplant in primary hemophagocytic lymphohistiocytosis - a single-center experience.

Annals of hematology
2024

Long-term observation of a piebald patient showing pigmentation within leukoderma.

European journal of dermatology : EJD
2024

Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.

Journal of clinical laboratory analysis
2024

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.

PloS one
2024

KIT 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 dermatology
2024

Novel 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 endocrinology
2024

Comparative 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)
2023

Griscelli Syndrome Type 2 Presenting with Isolated Neurologic Disorder.

Neurology India
2024

Successful 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
2023

[Acute cerebellar ataxia in Griscelli syndrome type 2].

Revista de neurologia
2023

Lesional CD8+ T-Cell Number Predicts Surgical Outcomes of Melanocyte-Keratinocyte Transplantation Surgery for Vitiligo.

The Journal of investigative dermatology
2023

[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].

Harefuah
2023

Molecular 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 immunology
2023

Piebaldism 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)
2023

Recipient-to-Donor Ratios in the Surgical Treatment of Vitiligo, Leukoderma, and Piebaldism: A Retrospective Review.

Dermatology (Basel, Switzerland)
2023

First record of partial albinism in the critically endangered Angelshark (Squatina squatina) (Linnaeus, 1758).

Journal of fish biology
2023

KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.

Indian dermatology online journal
2023

Piebaldism and chromatophore development in reptiles are linked to the tfec gene.

Current biology : CB
2023

Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.

Molecular genetics and genomics : MGG
2022

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Genes
2023

Meek micrografting, a novel surgical technique for the treatment of vitiligo and piebaldism: A case series.

Journal of the European Academy of Dermatology and Venereology : JEADV
2023

Griscelli Syndrome Type 1: Hair Microscopy Clinches the Diagnosis.

Indian journal of pediatrics
2022

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients.

Frontiers in medicine
2022

Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2.

Iranian journal of allergy, asthma, and immunology
2023

Observations of hypomelanosis in the nurse shark Ginglymostoma cirratum.

Journal of fish biology
2022

Assessing the Activation of Tyrosine Kinase KIT through Free Energy Calculations.

Journal of chemical theory and computation
2022

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish.

Journal of visualized experiments : JoVE
2022

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.

Annals of laboratory medicine
2021

MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.

Genes
2022

[Waardenburg's Syndrome Type IIA with Partial Albinism].

Klinische Monatsblatter fur Augenheilkunde
2022

Novel retinal finding in a patient with 4q12 deletion.

Ophthalmic genetics
2022

Piebaldism resulting from a novel deletion mutation of KIT gene in a five-generation Chinese family.

Clinical and experimental dermatology
2021

Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway.

eLife
2023

The investigation on allelic, genotypic frequencies and gene expression study in coding region of tyrosinase gene in Deoni cattle breed of western India.

Animal biotechnology
2021

Assessment of Non-cultured Autologous Epidermal Cell Grafting Resuspended in Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism Lesions: A Randomized Clinical Trial.

Acta dermato-venereologica
2021

Exploiting within-breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation-related traits, stature and udder defects in cattle.

Animal genetics
2021

Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.

BMC pediatrics
2021

Development, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells.

Stem cell research &amp; therapy
2021

Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure.

Pediatric hematology and oncology
2021

Repigmentation of White Forelock in a Familial Case of Piebaldism Reported via Teledermatology in the COVID-19 Era.

Skin appendage disorders
2021

Diagnostic and therapeutic caveats in Griscelli syndrome.

Scandinavian journal of immunology
2021

Donor to recipient ratios in the surgical treatment of vitiligo and piebaldism: a systematic review.

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

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Frontiers in immunology
2020

A novel c.2326G>A KIT pathogenic variant in piebaldism.

American journal of translational research
2021

Report of two Japanese patients with piebaldism including a novel mutation in KIT.

The Journal of dermatology
2020

Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?

American journal of medical genetics. Part A
2021

Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.

Pediatric dermatology
2020

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism.

Acta dermatovenerologica Croatica : ADC
2021

Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.

Scandinavian journal of immunology
2020

Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.

The Journal of dermatology
2020

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

American journal of medical genetics. Part A
2020

Striking contiguous depigmentation across the lower limbs in piebaldism, its implications for understanding melanocytic migration, development.

Pediatric dermatology
2021

Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.

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

Considering 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 &amp; cancer
2020

Case series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis.

The Netherlands journal of medicine
2020

Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

Journal of pediatric hematology/oncology
2020

Impact of graft cell density and viability on repigmentation upon noncultured autologous cell suspension transplantation in vitiligo and piebaldism.

Clinical and experimental dermatology
2020

Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.

Bone marrow transplantation
2020

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.

Clinical and experimental dermatology
2020

KIT-related piebaldism in a Chinese girl.

American journal of medical genetics. Part A
2020

Identification of kit-ligand a as the Gene Responsible for the Medaka Pigment Cell Mutant few melanophore.

G3 (Bethesda, Md.)
2020

Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.

International journal of dermatology
2019

Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature.

Annals of dermatology
2019

Anakinra as an agent to control hemophagocytic lymphohistiocytosis in Griscelli type 2.

Pediatric blood &amp; cancer
2019

First record of pigmentation disorder in the Fringe-lipped Bat Trachops cirrhosus (Spix, 1823) (Chiroptera: Phyllostomidae) from southeast Brazil.

Biodiversity data journal
2019

First record of atypical pigmentation pattern in fin whale Balaenoptera physalus in the Atlantic Ocean.

Diseases of aquatic organisms
2019

A novel KIT mutation in a family with expanded syndrome of piebaldism.

JAAD case reports
2019

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Medicina (Kaunas, Lithuania)
2019

Melanocyte lineage cells in piebald skin.

The Journal of dermatology
2019

Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.

Journal of pediatric hematology/oncology
2020

Griscelli syndrome type 2.

QJM : monthly journal of the Association of Physicians
2019

Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.

Pediatric dermatology
2019

Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.

Indian journal of pathology &amp; microbiology
2019

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Medicina (Kaunas, Lithuania)
2019

Extending the Mathematical Palette for Developmental Pattern Formation: Piebaldism.

Bulletin of mathematical biology
2019

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome.

Pediatric dermatology
2018

[Griscelli syndrome type 3: A new case].

Annales de dermatologie et de venereologie
2018

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Pediatric dermatology
2018

Oral 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 Dentistry
2018

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.

Journal of cutaneous pathology
2018

[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 genetics
2018

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

The Pan African medical journal
2018

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

JAAD case reports
2018

In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response.

Journal of dermatological science
2018

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

The Journal of allergy and clinical immunology
2018

An 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 : EJD
2017

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family.

Annals of dermatology
2017

[Piebaldisme: a rare genodermatosis].

The Pan African medical journal
2017

Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.

Pediatric transplantation
2017

Analogs of human genetic skin disease in domesticated animals.

International journal of women's dermatology
2017

Association of Piebaldism with Café-au-Lait Macules.

Skinmed
2017

Griscelli syndrome: A rare disorder.

Neurology India
2017

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.

Human mutation
2017

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.

World journal of pediatrics : WJP
2017

Autologous 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 dermatology
2017

Presentations, Signs of Activity, and Differential Diagnosis of Vitiligo.

Dermatologic clinics
2016

[Piebaldism: a pigmentary anomaly to recognize: about a case and review of the literature].

The Pan African medical journal
2017

Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).

PloS one
2016

Piebaldism in History-"The Zebra People".

JAMA dermatology
2016

Depigmented patches, mild scaling on newborn · Dx?

The Journal of family practice
2016

[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 genetics
2016

Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome.

British journal of haematology
2017

Further evidence for genotype-phenotype disparity in Griscelli syndrome.

The British journal of dermatology
2017

Use of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2016

Skin Regeneration Symposium Cambridge, 12-13 April 2016.

Regenerative medicine
2017

Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial.

The Journal of dermatological treatment
2016

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Genetic counseling (Geneva, Switzerland)
2016

Boy with silvery grey hair and immunodeficiency.

Journal of paediatrics and child health
2016

A case of piebaldism in a two-year-old female infant.

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
2016

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

The Journal of allergy and clinical immunology
2016

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.

Indian journal of pathology &amp; microbiology
2016

Severe anemia due to parvovirus B19 in a silver haired boy.

Indian journal of pathology &amp; microbiology
2016

Optimization of cerebellar purkinje neuron cultures and development of a plasmid-based method for purkinje neuron-specific, miRNA-mediated protein knockdown.

Methods in cell biology
2015

Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.

Pediatric dermatology
2015

Nepal after the disaster. Insider points of view for the future of critical care medicine.

American journal of respiratory and critical care medicine
2015

Autologous 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 Dermatology
2015

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Therapeutics and clinical risk management
2015

Molecular characterization of piebaldism in a Tunisian family.

Pathologie-biologie
2015

Systemic conditions in children associated with pigmentary changes.

Clinics in dermatology
2015

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Pediatric neurology
2015

Spontaneous repigmentation in an infant with piebaldism.

International journal of dermatology
Ver todos os 160 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Role of KIT signaling in ovarian development and function: Insights from multisystem biology.
    Biology of reproduction· 2026· PMID 41823673mais citado
  2. Aberrant Pigmentation in a Schooling Cownose Ray (Rhinoptera bonasus) in Chesapeake Bay, Virginia, USA.
    Ecology and evolution· 2026· PMID 41497784mais citado
  3. Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
    Medicine· 2026· PMID 41496009mais citado
  4. Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
    The Journal of dermatology· 2026· PMID 41127964mais citado
  5. Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
    JNMA; journal of the Nepal Medical Association· 2025· PMID 41782981mais citado
  6. Improving the diagnosis of renal tumours of young people through integrated molecular analysis.
    J Cancer Res Clin Oncol· 2026· PMID 41933220recente
  7. Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.
    Pharmaceuticals (Basel)· 2025· PMID 41305004recente
  8. Punch grafting for necrotising fasciitis: a case report.
    J Wound Care· 2025· PMID 41201875recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2884(Orphanet)
  2. OMIM OMIM:172800(OMIM)
  3. MONDO:0008244(MONDO)
  4. GARD:4344(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Piebaldismo
Compêndio · Raras BR

Piebaldismo

ORPHA:2884 · MONDO:0008244
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
E70.3 · Albinismo
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0080024
EuropePMC
Wikidata
Wikipedia
Papers 10a
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