Journal of Dermatology and Dermatologic Diseases

ISSN: 2684-4281

Open Access

Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross- McKusick-Breen Syndrome


Foteini Chatzinasiou, Alexander Stratigos and Dimitrios Rigopoulos

Piebaldism, Waardenburg syndrome and Cross-McKusick-Breen syndrome are rare disorders characterized by congenital skin and hair hypopigmentation. Piebaldism is inherited in an autosomal dominant pattern and Waardenburg syndrome is mostly transmitted in an autosomal dominant manner. These diseases are caused by abnormal migration of melanoblasts from the neuroectoderm into the skin. Cross-McKusick-Breen syndrome is an autosomal recessive disorder in which the epidermal melanocyte numbers are normal, but most melanosomes are in stage II or III and are probably characterized by defective melanosomal transfer. This publication describes the clinical and genetic characteristics of the three selected genodermatoses. Although rare and phenotypically diverse, the study of these diseases has yielded significant knowledge on the genes that regulate the migration of melanocytes and the mechanisms that control skin, hair and eye pigmentation.


Share this article

Google Scholar citation report
Citations: 4

Journal of Dermatology and Dermatologic Diseases received 4 citations as per Google Scholar report

Journal of Dermatology and Dermatologic Diseases peer review process verified at publons

Indexed In

arrow_upward arrow_upward