335 results match your criteria Piebaldism
Pediatr Dermatol 2018 Nov 18;35(6):780-783. Epub 2018 Oct 18.
Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.
Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. Read More
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):366-370
Department of Surgery, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China.
Objective: To screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.
Methods: Clinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. Read More
Pan Afr Med J 2018 25;29:75. Epub 2018 Jan 25.
Center for Hematology and Oncology Paediatrics, Children's hospital, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin. Read More
JAAD Case Rep 2018 May 31;4(4):318-321. Epub 2018 Mar 31.
Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
J Dermatol Sci 2018 Jul 21;91(1):35-42. 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
Eur J Dermatol 2018 Feb;28(1):119-120
Oasi Institute for Research on Mental Retardation and Brain Aging(IRCCS) - Via Conte Ruggero, 73 - 94018 Troina (En), Italy.
Ann Dermatol 2017 Dec 30;29(6):801-803. Epub 2017 Oct 30.
Department of Dermatology, Shenzhen Hospital of Southern Medical University, Shenzhen, China.
Pediatr Transplant 2017 Nov 23;21(7). Epub 2017 Aug 23.
Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013. Read More
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
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
Hum Mutat 2017 10 19;38(10):1355-1359. Epub 2017 Jun 19.
Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.
Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss-of-function mutations in RAB27A, resulting from point mutations, short indel, or large deletions, account for all the cases reported to date. Read More
World J Pediatr 2017 08;13(4):392-394
Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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
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
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
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
JAMA Dermatol 2016 11;152(11):1261
State University of New York Downstate Medical Center, Brooklyn.
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
Br J Haematol 2016 10 19;175(1):11. Epub 2016 Jul 19.
Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Br J Dermatol 2017 04 7;176(4):1086-1089. Epub 2017 Feb 7.
St John's Institute of Dermatology, King's College London, London, U.K.
Dermatol Surg 2017 Jan;43(1):159-160
Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida.
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
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
J Paediatr Child Health 2016 Apr;52(4):465
Paediatrics, Institute of Child Health, Kolkata, West Bengal, India.
G Ital Dermatol Venereol 2016 Apr;151(2):208-9
Unit of Dermatology, Sant'Andrea Hospital, Rome Italy -
J Allergy Clin Immunol 2016 08 23;138(2):599-601.e3. Epub 2016 Mar 23.
Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex. Electronic address:
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
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
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
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
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
Am J Respir Crit Care Med 2015 Oct;192(7):781-4
2 Interdepartmental Division of Critical Care Medicine University of Toronto Toronto, Ontario, Canada.
J Am Acad Dermatol 2015 Jul;73(1):170-2
Netherlands Institute for Pigment Disorders (SNIP), Department of Dermatology, Academic Medical Centre, Amsterdam, The Netherlands.
QJM 2015 Nov 18;108(11):915. Epub 2015 May 18.
Department of Surgery and Translational Medicine, Division of Dermatology, University of Florence, Florence, Italy. email:
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
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
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
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
Int J Dermatol 2015 Jun 13;54(6):e244-6. Epub 2015 Mar 13.
Section of Dermatology, Hospital General Universitario, Alicante, Spain.
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,
Int J Dermatol 2015 Apr 17;54(4):393-5. Epub 2014 Dec 17.
Department of Dermatology, Venereology and Leprosy, Himalayan Institute of Medical Sciences, Dehradun, India.
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
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
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
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
Pediatr Allergy Immunol 2014 Dec 31;25(8):817-9. Epub 2014 Oct 31.
Division of Pediatric Allergy and Immunology, Cukurova University, Adana, Turkey.
J Eur Acad Dermatol Venereol 2016 Feb 8;30(2):336-8. Epub 2014 Sep 8.
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.