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    313 results match your criteria Piebaldism

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    Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).
    PLoS One 2017 7;12(2):e0171449. Epub 2017 Feb 7.
    Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
    Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain white as the whale ages. Grey morphs (previously referred to as partial albinos) appear mostly white at birth, with a splattering of rounded black marks; but as the whales age, the white skin gradually changes to a brownish grey color. Read More

    [Identification of a novel KIT mutation in a Chinese family affected with piebaldism].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Oct;33(5):637-40
    Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100005, China; Institute for Science and Technology Research of Chongqing Population and Family Planning, Chongqing 400020, China; Department of Dermatology, Air Force General Hospital, Beijing 100142, China, Email:
    Objective: To identify the pathogenic mutation underlying piebaldism in a Chinese family.

    Methods: A three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing. Read More

    Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial.
    J Dermatolog Treat 2017 Feb 16;28(1):86-91. Epub 2016 Jun 16.
    a Department of Dermatology and The Netherlands Institute for Pigment Disorders (SNIP) , Academic Medical Center, University of Amsterdam , Amsterdam , The Netherlands.
    Background: To date, autologous punch grafting appears to be the easiest and least expensive surgical technique for stable vitiligo and piebaldism. Punch grafting is available worldwide, with no need for specialised instruments. However, no reliable data on efficacy and safety of different punch depths and punch sizes are available. Read More

    PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.
    Genet Couns 2016 ;27(1):67-76
    Background And Aim: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. Read More

    Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):113-6
    Department of Pathology, Rangaraya Medical College, Kakinada, Andhra Pradesh, India.
    Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Read More

    Severe anemia due to parvovirus B19 in a silver haired boy.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):110-2
    Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
    Griscelli syndrome (GS) is a rare autosomal recessive immunodeficiency disorder in which the affected children present with characteristic silvery-white hairs. The hair microscopy of these children is characteristic and is helpful in differentiating GS from Chediak-Higashi syndrome which also presents with immunodeficiency and silver hairs. We report a 17-month-old boy with GS type 2 who presented with severe anemia. Read More

    Piebaldism in children.
    Cutis 2016 Feb;97(2):90-2
    Department of Dermatology, Beaumont Health, Trenton, Michigan, USA.
    Piebaldism is a rare autosomal-dominant disorder of melanocyte development characterized by congenital poliosis and stable patches of leukoderma. Initially, these clinical features may be the presenting signs of various syndromes or associated diseases, which should be considered in the differential diagnosis. We present the case of a 14-year-old adolescent girl with piebaldism, along with a review of the pathogenesis, diagnosis, and management of this disease entity. Read More

    Optimization of cerebellar purkinje neuron cultures and development of a plasmid-based method for purkinje neuron-specific, miRNA-mediated protein knockdown.
    Methods Cell Biol 2016 2;131:177-97. Epub 2015 Sep 2.
    Cell Biology and Physiology Center, National Heart, Lung Blood Institute, National Institutes of Health, MD, USA.
    We present a simple and efficient method to knock down proteins specifically in Purkinje neurons (PN) present in mixed mouse primary cerebellar cultures. This method utilizes the introduction via nucleofection of a plasmid encoding a specific miRNA downstream of the L7/Pcp2 promoter, which drives PN-specific expression. As proof-of-principle, we used this plasmid to knock down the motor protein myosin Va, which is required for the targeting of smooth endoplasmic reticulum (ER) into PN spines. Read More

    Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
    Pediatr Dermatol 2015 Nov-Dec;32(6):e245-8. Epub 2015 Sep 4.
    Department of Dermatology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
    A 3-year-old Arab boy with a history of hypoplastic left heart syndrome was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by fair skin pigmentation and silvery-grey hair, eyebrows, and eyelashes. The child had one older brother with similar hypopigmentation and another older brother who had died of congenital heart disease. The child had no history of neurologic deficits or immunodeficiency and no additional findings on clinical evaluation. Read More


    A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.
    Ther Clin Risk Manag 2015 21;11:635-8. Epub 2015 Apr 21.
    Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China ; Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China.
    Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Read More

    Molecular characterization of piebaldism in a Tunisian family.
    Pathol Biol (Paris) 2015 Jun 21;63(3):113-6. Epub 2015 Apr 21.
    Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of Intensive care and Neonatal Medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
    Objective: The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism.

    Methods: As the proband and her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of the KIT proto-oncogene by direct sequencing.

    Results: Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c. Read More

    Systemic conditions in children associated with pigmentary changes.
    Clin Dermatol 2015 May-Jun;33(3):362-7. Epub 2014 Dec 8.
    Department of Pediatrics, Indiana University School of Medicine, E3131 Fifth Third Office Building, 720 Eskenazi Avenue, Indianapolis, Indiana, 46202. Electronic address:
    Systemic conditions may have pigmentary associations. Prompt recognition of these associations allows the practitioner to initiate the appropriate workup and therapy when indicated. This contribution highlights some of the clinical features of neurofibromatosis 1, LEOPARD syndrome, acanthosis nigricans, hypomelanosis of Ito, incontinentia pigmenti, CHILD syndrome, and piebaldism to assist the dermatologist in making the proper diagnosis. Read More

    Seizure as the presenting manifestation in Griscelli syndrome type 2.
    Pediatr Neurol 2015 May 26;52(5):535-8. Epub 2015 Jan 26.
    Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    Background: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities.

    Method: A retrospective case analysis highlighting neurological complications in an individual with Griscelli syndrome type 2. Read More

    Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).
    Ann Hematol 2015 Jun 30;94(6):1057-60. Epub 2014 Dec 30.
    Department of Hematology and Oncology, Schwarzwald-Baar Clinic, Academic Teaching Hospital University of Freiburg, Klinikstr. 11, 78052, Villingen-Schwenningen, Germany,

    A case of Griscelli syndrome.
    Dermatol Online J 2014 Nov 15;20(11). Epub 2014 Nov 15.
    The Mission Hospital, Durgapur, West Bengal, India.
    A hallmark of Griscelli syndrome, a rare autosomal recessive disorder, is hair hypopigmentation characterized by a silver-gray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft. Either a primary neurological impairment or immune abnormalities are associated with this phenotype. We report the case of a 10-year-old child of consanguineous parents. Read More

    4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.
    Am J Med Genet A 2015 Jan 29;167A(1):231-7. Epub 2014 Oct 29.
    Child and Family Research Institute, Vancouver, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
    Chromosome 4q deletion syndrome is a rare intellectual disability disorder caused by a variety of non-recurrent deletions of 4q. We describe the evolution of the phenotypic features of a female patient with a previously unreported deletion of 4q12-4q21.21 (hg 18; 54,711,575-79,601,919). Read More

    Piebald mutation on a C57BL/6J background.
    J Vet Med Sci 2015 Feb 20;77(2):161-6. Epub 2014 Oct 20.
    Research Resources Center, RIKEN Brain Science Institute, Saitama 351-0198, Japan.
    The classic piebald mutation in the endothelin receptor type B (Ednrb) gene was found on rolling Nagoya genetic background (PROD-s/s) mice with white coat spotting. To examine whether genetic background influenced the phenotype in the piebald mutant mice, we generated a congenic strain (B6.PROD-s/s), produced by repeated backcrosses to the C57BL/6J (B6) strain. Read More

    Cerebellar involvement of Griscelli syndrome type 2.
    BMJ Case Rep 2014 Oct 14;2014. Epub 2014 Oct 14.
    Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
    Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the literature. Read More

    Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.
    J Pediatr Hematol Oncol 2015 May;37(4):300-3
    *Departments of Pediatrics, Duke University Medical Center, Durham, NC †Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA ‡Department of Pediatrics, Rady Children's Hospital, San Diego, CA.
    Hemophagocytic lymphohistiocytosis (HLH) is a disease caused by dysregulation and hyperactivation of the immune system, and can be familial or acquired. HLH presenting in infancy can be rapidly fatal if not promptly recognized and treated. Congenital HLH can be caused by various genetic mutations or part of immunodeficiency syndromes. Read More

    A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3.
    Dermatol Online J 2014 Jul 15;20(7). Epub 2014 Jul 15.
    Pt BDS PGIMS, Rohtak, Haryana, India.
    Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Read More

    Piebaldism in a 3-month-old infant--case report.
    Med Pregl 2014 Mar-Apr;67(3-4):109-10
    Introduction: Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts.

    Case Report: A 3 1/2 month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Read More

    A candidate gene association study for nine economically important traits in Italian Holstein cattle.
    Anim Genet 2014 Aug 2;45(4):576-80. Epub 2014 May 2.
    Department of Agricultural and Food Sciences, Division of Animal Sciences, University of Bologna, Viale Fanin 46, 40127, Bologna, Italy; Centre for Genome Biology, University of Bologna, 40126, Bologna, Italy.
    We genotyped 58 single nucleotide polymorphisms (SNPs) in 25 candidate genes in about 800 Italian Holstein sires. Fifty-six (minor allele frequency >0.02) were used to evaluate their association with single traits: milk yield (MY), milk fat yield (FY), milk protein yield (PY), milk fat percentage (FP), milk protein percentage (PP), milk somatic cell count (MSCC); and complex indexes: longevity, fertility and productivity-functionality type (PFT), using deregressed proofs, after adjustment for familial relatedness. Read More

    Rolling Nagoya mouse strain (PROD-rol/rol) with classic piebald mutation.
    J Vet Med Sci 2014 Aug 23;76(8):1093-8. Epub 2014 Apr 23.
    Research Resources Center, RIKEN Brain Science Institute, Saitama 351-0198, Japan.
    Ataxic rolling Nagoya (PROD-rol/rol) mice, which carry a mutation in the α1 subunit of the Cav2.1 channel (Cacna1a) gene, were discovered in 1969. They show white spots on agouti coat and have a mutation in the piebald spotting (s) locus. Read More

    Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.
    Neurology 2014 Apr;82(14):e122-3
    From the Unit of Pediatric Neurology and Neurodevelopment (A.G.S., P.S.), Department of Pediatrics (S.N., J.K.S., A.R.), and Department of Radiodiagnosis (S.V.), Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    A 3-year-old boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Examination showed silvery-gray hair (figure 1A), bilateral papilledema, spastic quadriparesis, brisk muscle-stretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Hair microscopy confirmed Griscelli syndrome (GS) (figure 1, B-D). Read More

    The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.
    J Biol Chem 2014 Apr 28;289(16):11059-67. Epub 2014 Feb 28.
    From the Laboratory of Membrane Trafficking Mechanisms, Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University, Aobayama, Aoba-ku, Sendai, Miyagi 980-8578, Japan.
    The small GTPase Rab27A is a crucial regulator of actin-based melanosome transport in melanocytes, and functionally defective Rab27A causes human Griscelli syndrome type 2, which is characterized by silvery hair. A GTPase-deficient, constitutively active Rab27A(Q78L) mutant has been shown to act as an inhibitor of melanosome transport and to induce perinuclear aggregation of melanosomes, but the molecular mechanism by which Rab27A(Q78L) inhibits melanosome transport remained to be determined. In this study, we attempted to identify the primary cause of the perinuclear melanosome aggregation induced by Rab27A(Q78L). Read More

    Alopecia in genetic diseases.
    G Ital Dermatol Venereol 2014 Feb;149(1):1-13
    Department of Internal Medicine and Medical Specialties, Unit of Dermatology Sapienza University, Rome, Italy -
    Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alterations, genetically determined. These alterations may be associated with a larger array of symptoms, as mentioned above, or may occur isolated. The number of genes involved and their penetration are responsible for the mode of transmission, severity, and phenotypic expression of the disease. Read More

    [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
    Postepy Hig Med Dosw (Online) 2013 Nov 26;67:1109-18. Epub 2013 Nov 26.
    Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
    Hypo- and hyperpigmentation disorders are the most severe dermatological diseases observed in patients from all over the world. These disorders can be divided into melanoses connected with disorders of melanocyte function and melanocytoses connected with melanocyte development. The article presents some hereditary hypomelanocytoses, which are caused by abnormal melanoblast development, migration and proliferation as well as by abnormal melanocyte viability and proliferation. Read More

    Successful treatment of severe myasthenia gravis developed after allogeneic hematopoietic stem cell transplantation with plasma exchange and rituximab.
    Pediatr Blood Cancer 2014 May 18;61(5):928-30. Epub 2013 Oct 18.
    Division of Pediatric Hematology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
    Myasthenia gravis is among the rare complications after allogeneic hematopoietic stem cell transplantation and is usually associated with chronic GVHD. Herein, we report a 2-year and 10 months of age female with Griscelli syndrome, who developed severe myasthenia gravis at post-transplant +22nd month and required respiratory support with mechanical ventilation. She was unresponsive to cyclosporine A, methylprednisolone, intravenous immunoglobulin, and mycophenolate mofetil and the symptoms could only be controlled after plasma exchange and subsequent use of rituximab, in addition to cyclosporine A and mycophenolate mofetil maintenance. Read More

    Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.
    S Afr Med J 2013 Jul 29;103(12 Suppl 1):984-8. Epub 2013 Jul 29.
    Ronald O Perelman Department of Dermatology and the Department of Cell Biology, New York University School of Medicine, New York, USA.
    Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four non-syndromic forms, OCA1-4, which are classified based on the gene that is mutated (tyrosinase, OCA2, tyrosinase-related protein 1 and SLC45A2, respectively). Read More

    A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.
    Biomed Res Int 2013 13;2013:689756. Epub 2013 Aug 13.
    The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha 410008, China.
    Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p. Read More

    [Identification of novel KIT gene mutations in two Chinese families with piebaldism].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2013 Aug;30(4):385-8
    Reproductive and Genetic Hospital of CITIC Xiangya, Changsha, Hunan 410078, P. R. China.
    Objective: To screen for potential mutations of KIT gene for two Chinese families affected with piebaldism in order to facilitate genetic counseling and assisted reproduction.

    Methods: Peripheral blood samples were collected from 2 patients of family 1 and the proband and 3 unaffected members of family 2 for the extraction of DNA and RNA. PCR-sequencing and reverse transcription PCR-sequencing were used to screen KIT mutations. Read More

    [A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
    Ann Biol Clin (Paris) 2013 Jul-Aug;71(4):461-4
    Service d'hématologie clinique, Hôpital militaire d'instruction Mohammed V, Rabat, Maroc.
    Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated by hemophagocytic syndrome. Read More

    Poliosis circumscripta: overview and underlying causes.
    J Am Acad Dermatol 2013 Oct 12;69(4):625-33. Epub 2013 Jul 12.
    Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
    Although traditionally known as "white forelock," poliosis circumscripta, defined as a localized patch of white hair in a group of hair follicles, can involve any hairy area on the body including the scalp, eyebrows, and eyelashes. Microscopically, poliosis demonstrates either decreased or absent melanin and/or melanocytes in the hair bulbs of the affected hair follicles. Classically, poliosis is known to occur in the setting of several genetic syndromes including piebaldism, Waardenburg, and tuberous sclerosis. Read More

    Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
    Exp Cell Res 2013 Sep 26;319(15):2360-7. Epub 2013 Jun 26.
    Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD 20852, USA.
    A fully functional immune system is essential to protect the body against pathogens and other diseases, including cancer. Vesicular trafficking provides the correct localization of proteins within all cell types, but this process is most exquisitely controlled and coordinated in immune cells because of their specialized organelles and their requirement to respond to selected stimuli. More than 60 Rab GTPases play important roles in protein trafficking, but only five Rab-encoding genes have been associated with inherited human disorders, and only one of these (Rab27a) causes an immune defect. Read More

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