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    327 results match your criteria Piebaldism

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    In-frame Val-Ser deletion of KIT in mild piebaldism causes aberrant secretion and SCF response.
    J Dermatol Sci 2018 Mar 21. Epub 2018 Mar 21.
    Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. Electronic address:
    Background: Piebaldism is a pigmentary disorder characterized by a white forelock and depigmented patches. Although the loss-of-function mutations in the KIT gene underlie the disease, the intracellular dynamics of the mutant KIT are largely unknown. We herein report a Japanese family with piebaldism in which the affected members showed a mild phenotype. Read More

    Analogs of human genetic skin disease in domesticated animals.
    Int J Womens Dermatol 2017 Sep 3;3(3):170-175. Epub 2017 Mar 3.
    Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
    Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. Read More

    Association of Piebaldism with Café-au-Lait Macules.
    Skinmed 2017 1;15(3):223-225. Epub 2017 Jun 1.
    Department of Dermatology and Venereology, Government Medical College, Haldwani (Nainital) 263139, Uttarakhand, India.
    A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Read More

    Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomized controlled trial comparing full surface and fractional CO laser recipient-site preparations.
    Br J Dermatol 2017 Nov 22;177(5):1293-1298. Epub 2017 Oct 22.
    Netherlands Institute for Pigment Disorders, Department of Dermatology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
    Background: Autologous noncultured cell suspension transplantation is an effective treatment for repigmentation in segmental vitiligo and piebaldism. Full surface laser ablation is frequently used to prepare the recipient site before cell suspension transplantation, even though the optimal laser settings and ablation depth are unknown.

    Objectives: To assess the efficacy and safety of less invasive recipient-site preparations. Read More

    Presentations, Signs of Activity, and Differential Diagnosis of Vitiligo.
    Dermatol Clin 2017 Apr;35(2):135-144
    Department of Dermatology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9069, USA. Electronic address:
    Vitiligo has a variety of presentations, including focal, acrofacial, segmental, and generalized forms. Thorough knowledge of these presentations is important to make the correct diagnosis. Signs of activity are important to recognize so that treatment is optimized. Read More

    [Piebaldism: a pigmentary anomaly to recognize: about a case and review of the literature].
    Pan Afr Med J 2016 14;25:155. Epub 2016 Nov 14.
    Service des Urgences Médicales Pédiatriques, Hôpital d'Enfants Rabat, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.
    Piebaldism is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing hypopigmented areas. It is due to an abnormal melanocytes development. It usually affects only the skin, but it may be associated with other anomalies or confused with other differential diagnoses. Read More

    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

    Skin Regeneration Symposium Cambridge, 12-13 April 2016.
    Regen Med 2016 07 30;11(5):443-57. Epub 2016 Jun 30.
    Future Science Group, London UK.
    The Annual Skin Regeneration Symposium, held in Cambridge, UK, 12-13 April 2016, explored the latest advancements in skin repair, regeneration and restoration, and the impact this has on patients. With over 140 delegates from the disciplines of burn and trauma care, chronic wounds and esthetic medicine, the symposium sparked lively debate and the sharing of results from interesting case studies, clinical trials and basic research to support the use of a Regenerative Epithelial Suspension produced using the ReCell(®) technology. Furthermore, it enabled delegates and speakers alike to share ideas and discuss how to improve the quality of care for patients. 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

    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

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