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Frontiers in Veterinary Science 2015Although deafness can be acquired throughout an animal's life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant... (Review)
Review
Although deafness can be acquired throughout an animal's life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant problem in several species. Extensive reviews exist of the genetics of deafness in humans and mice, but not for deafness in domestic animals. Hereditary deafness in many species and breeds is associated with loci for white pigmentation, where the cochlear pathology is cochleo-saccular. In other cases, there is no pigmentation association and the cochlear pathology is neuroepithelial. Late onset hereditary deafness has recently been identified in dogs and may be present but not yet recognized in other species. Few genes responsible for deafness have been identified in animals, but progress has been made for identifying genes responsible for the associated pigmentation phenotypes. Across species, the genes identified with deafness or white pigmentation patterns include MITF, PMEL, KIT, EDNRB, CDH23, TYR, and TRPM1 in dog, cat, horse, cow, pig, sheep, ferret, mink, camelid, and rabbit. Multiple causative genes are present in some species. Significant work remains in many cases to identify specific chromosomal deafness genes so that DNA testing can be used to identify carriers of the mutated genes and thereby reduce deafness prevalence.
PubMed: 26664958
DOI: 10.3389/fvets.2015.00029 -
Donor to recipient ratios in the surgical treatment of vitiligo and piebaldism: a systematic review.Journal of the European Academy of... May 2021Stabilized vitiligo resistant to conventional therapy (e.g. segmental vitiligo) and piebaldism lesions can be treated with autologous cellular grafting techniques, such...
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). These methods are preferred when treating larger surface areas due to the small amount of donor skin needed. However, the donor to recipient expansion ratios and outcomes reported in studies with cellular grafting vary widely, and to date, no overview or guideline exists on the optimal ratio. The aim of our study was to obtain an overview of the various expansion ratios used in cellular grafting and to identify whether expansion ratios affect repigmentation and colour match. We performed a systematic literature search in MEDLINE and EMBASE to review clinical studies that reported the expansion ratio and repigmentation after cellular grafting. We included 31 eligible clinical studies with 1591 patients in total. Our study provides an overview of various expansion ratios used in cellular grafting for vitiligo and piebaldism, which varied from 1:1 up to 1:100. We found expansion ratios between 1:1 and 1:10 for studies investigating NCST and from 1:20 to 1:100 in studies evaluating CMT. Pooled analyses of studies with the same expansion ratio and repigmentation thresholds showed that when using the lowest (1:3) expansion ratio, the proportion of lesions achieving >50% or >75% repigmentation after NCST was significantly better than when using the highest (1:10) expansion ratio (χ P = 0.000 and χ P = 0.006, respectively). Less than half of our included studies stated the colour match between different expansion ratios, and results were variable. In conclusion, the results of our study indicate that higher expansion ratios lead to lower repigmentation percentages after NCST treatment. This should be taken into consideration while determining which expansion ratio to use for treating a patient.
Topics: Humans; Melanocytes; Piebaldism; Skin Pigmentation; Skin Transplantation; Transplantation, Autologous; Treatment Outcome; Vitiligo
PubMed: 33428279
DOI: 10.1111/jdv.17108 -
The Journal of Investigative Dermatology Nov 1994Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results... (Review)
Review
Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cell-surface receptor transmembrane tyrosine kinase for an embryonic growth factor, Steel factor. Several pathologic mutations of the KIT gene have now been identified in different patients with piebaldism. Correlation of these mutations with the associated piebald phenotypes has led to the recognition of a hierarchy of three classes of mutations that result in a graded series of piebald phenotypes, and to improved understanding of the mechanisms that underlie dominant genetic disorders.
Topics: Genes; Humans; Mutation; Phenotype; Piebaldism; Proto-Oncogene Mas; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-kit; Receptor Protein-Tyrosine Kinases; Receptors, Colony-Stimulating Factor
PubMed: 7525736
DOI: 10.1111/1523-1747.ep12399455 -
American Family Physician Jan 2009Common causes of hyperpigmentation include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café-au-lait macules. Although most...
Common causes of hyperpigmentation include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café-au-lait macules. Although most hyperpigmented lesions are benign and the diagnosis is straightforward, it is important to exclude melanoma and its precursors and to identify skin manifestations of systemic disease. Treatment options for postinflammatory hyperpigmentation, melasma, solar lentigines, and ephelides include the use of topical agents, chemical peels, cryotherapy, or laser therapy. Caf&-au-lait macules are amenable to surgical excision or laser treatment. Disorders of hypopigmentation may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., albinism, piebaldism, tuberous sclerosis, hypomelanosis of Ito). Acquired disorders may include vitiligo, pityriasis alba, tinea versicolor, and postinflammatory hypopigmentation. Treatment of patients with widespread or generalized vitiligo may include cosmetic coverage, psoralen ultraviolet A-range therapy (with or without psoralens), or narrow-band ultraviolet-B therapy; whereas those with stable, limited disease may be candidates for surgical grafting techniques. Patients with extensive disease may be candidates for depigmentation therapy. Other acquired disorders may improve or resolve with treatment of the underlying condition.
Topics: Cafe-au-Lait Spots; Humans; Inflammation; Melanosis; Pigmentation Disorders; Vitiligo
PubMed: 19178061
DOI: No ID Found -
International Journal of Women's... Sep 2017Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis,... (Review)
Review
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. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians. In addition, we will explore how animal diseases serve as a model to uncover the mechanisms of human disease. The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.
PubMed: 28831430
DOI: 10.1016/j.ijwd.2017.01.003 -
Dermatology Online Journal Feb 2011Piebaldism is a rare autosomal dominant skin disorder characterized by a white forelock and depigmented patches of skin, generally located on the forehead, central chest... (Review)
Review
Piebaldism is a rare autosomal dominant skin disorder characterized by a white forelock and depigmented patches of skin, generally located on the forehead, central chest and abdomen, upper arms, and lower extremities. We report a case of a 2-year-old girl with a typical presentation and review the literature concerning this condition.
Topics: Child, Preschool; Female; Genes, Dominant; Humans; Piebaldism
PubMed: 21382296
DOI: No ID Found -
Skin Research and Technology : Official... Jun 2023Piebaldism is a rare, autosomal dominant, and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in KIT or...
BACKGROUND
Piebaldism is a rare, autosomal dominant, and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in KIT or SLUG genes result in piebaldism. Most individuals with piebaldism have a family history of the disorder.
METHODS
In this paper, we report a case of piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene c.1982C > T (p.Thr661Ile) in a three-generation Chinese family. The whole-exome sequencing, mitochondrial gene 3000X, and bioinformatics tools were used to identify the mutation in this new-found pedigree. In addition, we searched the databases of "Punmed, Chinese National Knowledge Infrastructure, CMJD, WANFANG MED ONLINE", reviewed 88 cases of piebaldism caused by KIT gene mutation, and summarized the relationship between clinical phenotype and genotype of piebaldism through logistic regression and other statistical methods.
RESULTS
The proband and her affected mother carried a heterozygous c.1982C > T missense mutation (p.Thr661Ile) on KIT gene. Bioinformatics analysis hinted that it had potential pathogenicity. The data showed that piebaldism patients with cafè-au-lait macules had KIT mutations almost located in the intracellular tyrosine kinase domain and were mostly related to the severe clinical phenotype of piebaldism.
CONCLUSION
The new heterozygous c.1982C > T missense mutation on KIT caused piebaldism with café-au-lait macules in this Chinese family. This study provides a new reference index for clinicians to judge the severity of clinical phenotypes of piebaldism, broadens the understanding of the correlation between clinical phenotypes and genotypes of piebaldism, and provides reference of genetic counseling and prenatal diagnosis for affected families.
Topics: Humans; Female; Piebaldism; Proto-Oncogene Proteins c-kit; Cafe-au-Lait Spots; Mutation; Pigmentation Disorders
PubMed: 37357653
DOI: 10.1111/srt.13352 -
Animals : An Open Access Journal From... Sep 2023Belted pig breeds have unique, distinguishing phenotypic characteristics. This review summarises the current knowledge on pig breeds displaying a belted coat pattern.... (Review)
Review
Belted pig breeds have unique, distinguishing phenotypic characteristics. This review summarises the current knowledge on pig breeds displaying a belted coat pattern. Belts of different widths and positions around the animal's trunk characterise specific pig breeds from all around the world. All the breeds included in the present paper have been searched through the FAO domestic animal diversity information system (DAD-IS), Every country was checked to identify all breeds described as having black or red piebald coat pattern variations. Advances in genomic technologies have made it possible to identify the specific genes and genetic markers associated with the belted phenotype and explore the genetic relationships between different local breeds. Thus, the origin, history, and production traits of these breeds, together with all the genomic information related to the mechanism of skin pigmentation, are discussed. By increasing our understanding of these breeds, we can appreciate the richness of our biological and cultural heritage and work to preserve the biodiversity of the world's animals.
PubMed: 37835678
DOI: 10.3390/ani13193072 -
Frontiers in Medicine 2022Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had gene mutations. Up to date, approximately 90 mutations causing piebaldism were reported.
BACKGROUND
Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had gene mutations. Up to date, approximately 90 mutations causing piebaldism were reported.
METHODS
To identify gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. Whole-exome sequencing was performed to detect potential disease-causing variants in the three probands. Putative variants were validated by Sanger sequencing.
RESULTS
Heterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in gene were detected in three probands. These variants were all novel and classified as pathogenic/likely pathogenic variants according to the interpretation guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The probands carrying variants located in tyrosine kinase domain exhibited a more severe phenotype.
CONCLUSION
The piebaldism in three families was caused by novel heterozygous variants. The severity of phenotypes is related with the types and locations of different mutations. Our results further provided evidence for genetic counseling for the three families.
PubMed: 36438053
DOI: 10.3389/fmed.2022.1040747 -
Annals of Dermatology Oct 2019We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type...
We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 () due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and . However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for . Besides, it may be suitable that these individuals with piebaldism showing -like clinical phenotypes should be further tested for and gene mutations.
PubMed: 33911651
DOI: 10.5021/ad.2019.31.5.567