Piebaldism: An update

ArticleinInternational Journal of Dermatology 43(10):716-9 · November 2004with18 Reads
DOI: 10.1111/j.1365-4632.2004.02114.x · Source: PubMed
    • "Histologically, melanocytes are completely absent in the white spot area due to defective melanoblasts proliferation and/or migration from the neural crest during early embryonic develop- ment [5] . Because of its distinctive phenotype, the first descriptions of piebaldism date back to early Egyptian, Greek and Roman writings [3,5]. It was one of the first autosomal dominant genetic disorders recognized and was also one of the first genetic diseases for which a pedigree was presented. "
    [Show abstract] [Hide abstract] ABSTRACT: The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism. 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. Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c.1939C>T) in heterozygous state in the patient and his mother. The mutation was not found in their unaffected family members or normal controls. Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism. Copyright © 2015 Elsevier Masson SAS. All rights reserved.
    Full-text · Article · Apr 2015
    • "Since ages, the skin colour is an important issue for human race. Melanocyte abnormalities are mentioned during the fetal developmental stages in literature from ancient cultures [1]. The deciding factor for the pigmentation is melanin. "
    [Show abstract] [Hide abstract] ABSTRACT: Since ages, the skin colour is an important issue for human race. Melanocyte abnormalities are mentioned during the fetal developmental stages in literature from ancient cultures. The deciding factor for the pigmentation is melanin. An old notion of melanocyte producing melanin is now obsolete. It is the epidermal unit which is responsible for the process of melanogenesis, production and distribution of the melanin. Various systemic diseases are having hyper or hypo-pigmenatation as their signs. The present review briefly describes a few of these systemic disorders.
    Full-text · Article · Jan 2015
    • "A piebald patient with congenital dyserythropoietic anemia Type II (HEMPAS) and a patient with Diamond-Blackfan anemia have been also reported. Grover's Disease or transient acantholytic dermatosis limited to the depigmented macules in a patient with piebaldism has been described [6,9,11]. "
    Article · Jan 2015 · Pathologie Biologie
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