378 results match your criteria Piebaldism


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

BMC Pediatr 2021 05 31;21(1):253. Epub 2021 May 31.

Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.

Background: Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Read More

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

Skin Appendage Disord 2021 Feb 9;7(2):120-122. Epub 2020 Dec 9.

Department of Clinical Medicine and Surgery, Section of Dermatology, University of Naples Federico II, Napoli, Italy.

Piebaldism is a rare autosomal dominant disorder characterized by leucoderma with leucotrichia. We describe a case of white forelock repigmentation in an infant with piebaldism, thanks to a photograph sent by the patient's mother to our dermatology clinic, during COVID-19 pandemic. Read More

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February 2021

Diagnostic and therapeutic caveats in Griscelli syndrome.

Scand J Immunol 2021 Jun 20;93(6):e13034. Epub 2021 Mar 20.

Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.

Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. Read More

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

J Eur Acad Dermatol Venereol 2021 May 12;35(5):1077-1086. Epub 2021 Feb 12.

Department of Dermatology, Amsterdam University Medical Center, Netherlands Institute for Pigment Disorders, Amsterdam Infection and Immunity Institute, Amsterdam, the Netherlands.

Stabilized vitiligo resistant to conventional therapy (e.g. segmental vitiligo) and piebaldism lesions can be treated with autologous cellular grafting techniques, such as non-cultured cell suspension transplantation (NCST) and cultured melanocyte transplantation (CMT). Read More

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

Am J Transl Res 2020 15;12(10):6501-6508. Epub 2020 Oct 15.

Henan Provincial People's Hospital, Medical Genetics Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, People's Hospital of Zhengzhou University, People's Hospital of Henan University Zhengzhou 450003, P. R. China.

Introduction: Piebaldism is a rare autosomal dominant disorder characterized by congenital patchy depigmentation of the scalp, forehead, trunk, and limbs. The gene is the mainly causative gene to this disease. But how is involved in piebaldism remains unclear. Read More

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October 2020

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

J Dermatol 2021 Feb 6;48(2):e94-e95. Epub 2020 Nov 6.

Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

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February 2021

Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?

Am J Med Genet A 2020 12 25;182(12):3074-3075. Epub 2020 Sep 25.

Department of Paediatric Dermatology, Birmingham Children's Hospital, Birmingham, UK.

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December 2020

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

Pediatr Dermatol 2021 Jan 23;38(1):194-197. Epub 2020 Sep 23.

Division of Dermatology, Department of Medicine, University of Ottawa, Ottawa, ON, Canada.

Griscelli syndrome type 2 is a rare autosomal recessive disorder characterized by hypopigmentation, silvery hair, and immunological dysfunction with no primary neurological impairment. We report an 18-month-old girl with Griscelli syndrome type 2 who presented to the dermatology department for cutaneous granulomas that developed following live-attenuated vaccination. Two compound heterozygous variants in the RAB27A gene were subsequently identified. Read More

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January 2021

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism.

Acta Dermatovenerol Croat 2020 Aug;28(2):105-108

Justas Arasimavičius, MD, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškių g. 2, Vilnius, Lithuania;

Piebaldism is a rare, autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair. We report on a familial 4q12 deletion that involves the KIT gene and causes piebaldism in affected individuals. Whole-genome genotyping analysis of the proband using HumanCytoSNP-12v2. Read More

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

J Dermatol 2020 Nov 30;47(11):e382-e383. Epub 2020 Aug 30.

Faculty of Life Sciences, University of Central Punjab (UCP), Lahore, Pakistan.

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November 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.

Pediatr Blood Cancer 2020 08 27;67(8):e28312. Epub 2020 May 27.

Division of Clinical Neuroscience, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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

Neth J Med 2020 04;78(3):136-141

Department of Rheumatology and Clinical immunology, University Medical Center Utrecht, Utrecht, the Netherlands.

Macrophage activation syndrome (MAS) is a secondary form of haemophagocytic lymphohistiocytosis (HLH). MAS-HLH is an underrecognised and life-threatening condition associated with a heterogeneous group of diseases including connective tissue disease and inflammatory disorders. Here, we report three cases of adult patients with MAS-HLH triggered by different entities, including systemic lupus erythematosus, Griscelli syndrome type 2, and Adult onset Still's disease. Read More

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Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

J Pediatr Hematol Oncol 2020 08;42(6):e434-e439

Department of Pediatrics, Division of Pediatric Immunology.

Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive immune responses with high mortality. We aimed to define mortality-related parameters in HLH secondary to primary immunodeficiency (PID). A total of 28 patients with HLH between the years 2013 and 2017 were enrolled in the study. Read More

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

Clin Exp Dermatol 2020 Oct 22;45(7):907-908. Epub 2020 Jun 22.

Netherlands Institute for Pigment Disorders, Department of Dermatology, Amsterdam Infection and Immunity Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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October 2020

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

Bone Marrow Transplant 2020 10 14;55(10):2026-2034. Epub 2020 Apr 14.

Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

In 2010, we reported the outcome of hematopoietic stem cell transplantation (HSCT) in 11 children with Griscelli syndrome type 2 (GS2). We report here the update on this cohort to include 35 patients. Twenty-seven (77%) patients received conditioning regimen including busulfan, cyclophosphamide with etoposide. Read More

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October 2020

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

Clin Exp Dermatol 2020 Aug 10;45(6):789-792. Epub 2020 Apr 10.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

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KIT-related piebaldism in a Chinese girl.

Am J Med Genet A 2020 06 27;182(6):1321-1328. Epub 2020 Mar 27.

Dermatology Hospital of Southern Medical University, Guangzhou, China.

Piebaldism is a rare, autosomal dominant and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in KIT or SNAI2 genes result in piebaldism. Most individuals with piebaldism have a family history of the disorder. Read More

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Identification of as the Gene Responsible for the Medaka Pigment Cell Mutant .

G3 (Bethesda) 2020 01 7;10(1):311-319. Epub 2020 Jan 7.

Division of Gene Regulation, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo 160-8582, Japan,

The body coloration of animals is due to pigment cells derived from neural crest cells, which are multipotent and differentiate into diverse cell types. Medaka () possesses four distinct types of pigment cells known as melanophores, xanthophores, iridophores, and leucophores. The () mutant of medaka is characterized by reduced numbers of melanophores and leucophores. Read More

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January 2020

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

Int J Dermatol 2020 Mar 13;59(3):e55-e57. Epub 2019 Nov 13.

St St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

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

Ann Dermatol 2019 Oct 30;31(5):567-570. Epub 2019 Aug 30.

Department of Dermatology, Dokuz Eylul University, Faculty of Medicine, İzmır, Turkey.

We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 () due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and . However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for . Read More

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October 2019

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

Pediatr Blood Cancer 2019 12 18;66(12):e27997. Epub 2019 Sep 18.

Department of Pediatrics, Division of Allergy, Immunology, & Rheumatology, University of Florida, Gainesville, Florida.

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December 2019

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

Biodivers Data J 2019 28;7:e38304. Epub 2019 Aug 28.

Centro de Ciências Humanas e Naturais. Departamento de Ciências Biológicas, Universidade Federal do Espírito Santo - UFES, Vitória, Brazil Centro de Ciências Humanas e Naturais. Departamento de Ciências Biológicas, Universidade Federal do Espírito Santo - UFES Vitória Brazil.

Piebaldism is a genetic pigmentation disorder, which is caused by absence of melanocytes in parts of the skin and/or hair follicles, with eyes and claws normally pigmented. The occurrence of piebaldism in natural populations is rare and the effects on fitness are still unknown. This article reports the first case of pigmentation disorders in the Fringe-lipped Bat (Spix, 1823) (Chiroptera: Phyllostomidae) caught in Barra do Triunfo, city of João Neiva, northeastern state of Espírito Santo, southeast Brazil. Read More

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

Dis Aquat Organ 2019 Aug;135(2):121-125

Bottlenose Dolphin Research Institute (BDRI), 36980 O Grove, Pontevedra, Spain.

Atypical pigmentation, which is rarely observed in the wild, may influence social interactions between animals and can be detrimental for survival. Hypopigmentation, which is the lack of pigment in a part or on the entire body, is a type of atypical pigmentation pattern that can be either acquired (e.g. Read More

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

JAAD Case Rep 2019 Jul 13;5(7):627-631. Epub 2019 Jul 13.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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

Medicina (Kaunas) 2019 Jul 7;55(7). Epub 2019 Jul 7.

Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.

Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Tietz syndrome, and piebaldism. APDs are part of the neurocristopathies, a group of congenital multisystem disorders caused by an altered development of the neural crest cells, multipotent progenitors of a wide variety of different lineages, including those differentiating into peripheral nervous system glial cells and melanocytes. Read More

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Melanocyte lineage cells in piebald skin.

J Dermatol 2019 09 28;46(9):816-818. Epub 2019 Jun 28.

Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.

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September 2019