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J Eur Acad Dermatol Venereol 2022 May 11. Epub 2022 May 11.

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Background: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner.

Objectives: To describe the genotypic and clinical spectrum of biallelic KITLG-variants.

Methods: We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports. Read More

J Vis Exp 2022 03 1(181). Epub 2022 Mar 1.

CSIR-Institute of Genomics and Integrative Biology; Academy of Scientific and Innovative Research;

Melanocytes are specialized neural crest-derived cells present in the epidermal skin. These cells synthesize melanin pigment that protects the genome from harmful ultraviolet radiations. Perturbations in melanocyte functioning lead to pigmentary disorders such as piebaldism, albinism, vitiligo, melasma, and melanoma. Read More

Ann Lab Med 2022 May;42(3):384-388

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Genes (Basel) 2021 09 23;12(10). Epub 2021 Sep 23.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study was to characterize the clinical signs, histopathological changes and underlying genetic defect. The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period. Read More

Ophthalmic Genet 2022 02 22;43(1):120-122. Epub 2021 Sep 22.

Graduate School of Ophthalmology, University of Siena, Siena, Italy.

Background: Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral microphthalmia with bilateral colobomata, blue sclerae with pigmented retinal clumps, hypermetropia, and a divergent squint.

Purpose: To report a case of 4q12 deletion with a singular retinal feature. Read More

Clin Exp Dermatol 2022 Jan 10;47(1):232-234. Epub 2021 Aug 10.

Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, China.

Elife 2021 08 6;10. Epub 2021 Aug 6.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, United States.

Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40-50% of all mammalian proteins being potential substrates. However, the overall role of amino-terminal acetylation on a whole-organism level is poorly understood, particularly in mammals. Read More

Acta Derm Venereol 2021 Jul 30;101(7):adv00506. Epub 2021 Jul 30.

Department of Infectious Diseases and Dermatology, Saint-Pierre University Hospital, 97 Avenue du Président Mitterrand, La Réunion, France. E-mail:

The aim of this study was to assess the efficacy of non-cultured autologous epidermal cell grafting resuspended in hyaluronic acid, performed using a ready-to-use kit, compared with hyaluronic acid alone (neutral comparator) for repigmenting vitiligo and piebaldism lesions at 6 months. Two identified paired lesions per patient were randomized to be treated by either device. Devices with a ready-to-use kit were prepared by separate health professionals, to maintain blinding. Read More

Anim Genet 2021 Oct 28;52(5):579-597. Epub 2021 Jun 28.

Division of Animal Sciences, Department of Agricultural and Food Science, University of Bologna, Viale Giuseppe Fanin 46, Bologna, 40127, Italy.

Autochthonous cattle breeds constitute important reservoirs of genetic diversity. Reggiana is an Italian local cattle breed reared in the north of Italy for the production of a mono-breed Parmigiano-Reggiano cheese. Reggiana cattle usually have a classical solid red coat colour and pale muzzle. Read More

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

Stem Cell Res Ther 2021 05 13;12(1):287. Epub 2021 May 13.

Graduate School of Health Sciences, Department of Stem Cell Sciences, Hacettepe University, Sıhhiye, 06100, Ankara, Turkey.

Background: Griscelli syndrome type 2 (GS-2) is a rare, autosomal recessive immune deficiency syndrome caused by a mutation in the RAB27A gene, which results in the absence of a protein involved in vesicle trafficking and consequent loss of function of in particular cytotoxic T and NK cells. Induced pluripotent stem cells (iPSC) express genes associated with pluripotency, have the capacity for infinite expansion, and can differentiate into cells from all three germ layers. They can be induced using integrative or non-integrative systems for transfer of the Oct4, Sox2, Klf4, and cMyc (OSKM) transcription factors. Read More

Pediatr Hematol Oncol 2021 Sep 1;38(6):593-601. Epub 2021 Apr 1.

University of Minnesota Pediatric Blood and Marrow Transplantation/Cellular Therapy, University of Minnesota, Minneapolis, Minnesota, USA.

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

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

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

Front Immunol 2020 10;11:612977. Epub 2020 Dec 10.

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicular transport and organelle dynamics. Read More

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

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

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

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.

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

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

Scand J Immunol 2021 Jan 14;93(1):e12966. Epub 2020 Sep 14.

Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

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

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

Am J Med Genet A 2020 11 28;182(11):2570-2580. Epub 2020 Aug 28.

Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c. Read More

Pediatr Dermatol 2020 05;37(3):585

J Eur Acad Dermatol Venereol 2021 Jan 22;35(1):e53-e56. Epub 2020 Jul 22.

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

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.

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

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

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.