The Phenomenon of Piebaldism in Sharks: A Review of Global Sightings and Patterns [PDF]
Ecology and EvolutionChromatic disorders in elasmobranchs (sharks and rays) have been reported in several species, but little is known about their true abundance or consequences for survival and fitness.
Darren A. Whitehead +9 more
doaj +3 more sources
KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence [PDF]
Indian Dermatology Online Journal, 2023 Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait ...
Shibhani S Hegde +2 more
doaj +3 more sources
Novel pathogenic variants in KIT gene in three Chinese piebaldism patients [PDF]
Frontiers in Medicine, 2022 BackgroundPiebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported.MethodsTo identify KIT gene mutations in three pediatric piebaldism ...
Chen Wang +5 more
doaj +2 more sources
Aberrant Pigmentation in a Schooling Cownose Ray (<i>Rhinoptera bonasus</i>) in Chesapeake Bay, Virginia, USA. [PDF]
Ecol EvolWe report a rare case of aberrant pigmentation in a cownose ray (Rhinoptera bonasus) observed schooling naturally within Chesapeake Bay, Virginia. Drone and in‐water imagery revealed a piebald‐like pattern without any disruption to coordinated group behavior, providing the first in situ evidence that pigmentation anomalies in this species do not ...
Bennett-Smith MF +4 more
europepmc +2 more sources
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations. [PDF]
J DermatolABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Okamura K, Suzuki T.
europepmc +2 more sources
Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review [PDF]
PharmaceuticalsRare diseases are conditions that affect up to 65 people per 100,000 individuals. They are also known as “orphan diseases”, because they attract limited interest from researchers and pharmaceutical industries.
Beatriz de Araujo Oliveira +4 more
doaj +2 more sources
RETRACTION: Comparative Outcomes of Autologous Cultured Melanocytes Transplantation and Non-Cultured Epidermal Cell Suspension Transplantation in Piebaldism Patients: A Retrospective Study. [PDF]
Skin Res TechnolSkin Research and Technology, Volume 31, Issue 9, September 2025.
europepmc +2 more sources
Colour Confusion: Reviewing Ambiguities in the Identification and Classification of Chromatophore Deficiencies Among Amphibians. [PDF]
Ecol EvolThe colour of amphibian skin and eyes is the result of light interacting with multiple chromatophores (xanthophores, iridophores and melanophores), leading to challenges when trying to identify which of these cells are involved in colour abnormalities.
Gould J.
europepmc +2 more sources
Correction to "The Phenomenon of Piebaldism in Sharks: A Review of Global Sightings and Patterns". [PDF]
Ecol EvolEcology and Evolution, Volume 15, Issue 7, July 2025.
europepmc +2 more sources
Piebaldism: A brief report and review of the literature
Indian Dermatology Online Journal, 2012 Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules.
Saurabh Agarwal, Amit Ojha
exaly +3 more sources