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Pediatr Dermatol 2020 May;37(3):585

Clin Exp Dermatol 2020 Apr 20. Epub 2020 Apr 20.

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

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

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

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.

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

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

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.

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

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

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

J Pediatr Hematol Oncol 2019 08;41(6):473-477

Division of Pediatric Hematology-Oncology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR.

Griscelli syndrome type 2 (GS2) is an autosomal recessive condition associated with the development of hemophagocytic lymphohistiocytosis. GS2 is caused by a gene mutation involving RAB27A, which affects a melanosome anchoring complex in melanocytes and releases cytolytic granules from T cells and natural killer cells. GS2 is known to have immunologic compromise and oculocutaneous albinism. Read More

Pediatr Dermatol 2019 Jul 14;36(4):511-513. Epub 2019 Apr 14.

University of California, San Francisco, California.

Piebaldism is a rare autosomal dominant disorder of pigmentation that is characterized by variable patches of depigmentation on the face, chest, abdomen, and extremities. We describe two cases of piebaldism, in whom the remarkable asymmetric distribution of the depigmented patches in a connected, contiguous pattern across the legs provides embryologic insights. This finding is not explained by the traditional theory that melanocytic migration only originates in the neural crest and progresses unilaterally down each leg. Read More

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):279-282

Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, New Delhi, India.

Griscelli syndrome is a rare autosomal recessive inherited disorder characterized by hypopigmentation, silver colored hair, and associated immunological deficiency, which proves fatal in the absence of timely intervention. Our patients diagnosed with Griscelli syndrome-2 presented with fever, hepatosplenomegaly, and deranged hematological and biochemical parameters. Both cases underwent detailed investigations comprising of hair mount microscopic examination, degranulation assay, and mutational studies. Read More

Medicina (Kaunas) 2019 Mar 25;55(3). Epub 2019 Mar 25.

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

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. Read More

Bull Math Biol 2019 05 28;81(5):1461-1478. Epub 2019 Jan 28.

Anatomy, Section of Medicine, University of Fribourg, Route Albert-Gockel 1, 1700, Fribourg, Switzerland.

Here, we present a theoretical investigation with potential insights on developmental mechanisms. Three biological factors, consisting of two diffusing factors and a cell-autonomous immobile transcription factor are combined with different feedback mechanisms. This results in four different situations or fur patterns. Read More

Pediatr Dermatol 2019 Jan 18;36(1):72-84. Epub 2018 Dec 18.

University of Florida College of Medicine, Gainesville, Florida.

Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. Read More

Ann Dermatol Venereol 2018 Dec 30;145(12):785-789. Epub 2018 Oct 30.

Service de dermatologie, GHR Mulhouse Sud-Alsace, 87, avenue Altkirch, 68100 Mulhouse, France.

Introduction: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. We report a case of GS type 3 with late diagnosis.

Observation: A 31-year-old female patient had presented depigmentation of the hair and eyebrows as well as diffuse skin hypopigmentation during childhood. Read More

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

Spec Care Dentist 2018 Nov 12;38(6):421-425. Epub 2018 Sep 12.

Orthodontics and Dentofacial Deformities, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.

Griscelli syndrome (GS) is an autosomal-recessive disorder of the vesicle transport and membrane trafficking system first identified by Griscelli et al in 1978. The three types of GS have specific genetic defects and systemic manifestations apart from classic partial pigmentary dilution, resulting in hypopigmentation of skin and silvery hair. GS-II occurs due to a defect in the Rab27a gene and is characterized by primary immune deficiency along with accelerated phases of a hemophagocytic lymphohistiocytosis (HLH) crisis. Read More

Indian J Dermatol Venereol Leprol 2018 Sep-Oct;84(5):584

Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

J Cutan Pathol 2018 Dec 25;45(12):918-922. Epub 2018 Sep 25.

Department of Dermatology, North DMC Medical College and Hindurao Hospital, New Delhi, India.

We herein illustrate a case of an adult male presenting with silvery hair and generalized guttate hypopigmented macules on a background of diffuse cutaneous hyperpigmentation, since birth. Histopathology showed enlarged melanocytes with abundant melanin. Based on these clinicopathological features, differential diagnoses considered were Griscelli syndrome 3 (GS3) and familial giagantic melanocytosis. 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

J Allergy Clin Immunol 2018 07 6;142(1):317-321.e8. Epub 2018 Mar 6.

Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden; Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway.

Eur J Dermatol 2018 02;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.

Pan Afr Med J 2017 24;27:221. Epub 2017 Jul 24.

Service de Dermatologie, CHU Hassan II, Fès, Maroc.

Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. Read More

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;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

Neurol India 2017 Jul-Aug;65(4):869-870

Department of Radiodiagnosis, Pandit JNM Medical College and Dr. B.R. Ambedkar Memorial Hospital, Raipur, Chhattisgarh, India.

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.

J Fam Pract 2016 09;65(9):620-2

Metro Health Medical Center, Cleveland, OH, USA.

Depigmented patches covering approximately 15% of newborn's body, surrounded by areas of thickened skin. Mild scaling and hyperpigmentation. Read More

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.