Piebaldism: an update

Thomas, Isabelle; Kihiczak, George; Fox, Michael; Jänniger, Camila K.; Schwartz, Robert A.

doi:10.1111/j.1365-4632.2004.02114.x

Cited by 68 publications

(43 citation statements)

References 34 publications

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“…In addition, the development of pigmented tissue is related to a number of disease states and so a screen focusing on melanocytes could also play a role at the early stages of drug discovery. Examples of such diseases include albinism, piebaldism, an autosomal disorder leading to localized hypopigmentation (Thomas et al, 2004), vitiligo, an autoimmune disease leading to the destruction of melanocytes and pigment-free patches of skin in patients (Kelsh et al, 2000), hyperpigmentation, and finally skin cancer or melanoma (Kelsh et al, 2000;van Kempen and Coussens, 2002;Sturm, 2009).…”

Section: A Chemical Screen For Compounds Affecting Pigment Cell Develmentioning

confidence: 99%

Simple vertebrate models for chemical genetics and drug discovery screens: Lessons from zebrafish and Xenopus

Wheeler

Brändli

2009

Developmental Dynamics

158

131

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Chemical genetics uses small molecules to modulate protein function and, in principle, has the potential to perturb any biochemical event in a complex cellular context. The application of chemical genetics to dissect biological processes has become an attractive alternative to mutagenesis screens due to its technical simplicity, inexpensive reagents, and low-startup costs. In vertebrates, only fish and amphibians are amenable to chemical genetic screens. Xenopus frogs share a long evolutionary history with mammals and so represent an excellent model to predict human biology. In this review, we discuss the lessons learned from chemical genetic studies carried out in zebrafish and Xenopus. We highlight how Xenopus can be employed as a convenient first-line animal model at various stages of the drug discovery and development process and comment on how they represent much-needed tools to bridge the gap between traditional in vitro and preclinical mammalian assays in biomedical research and drug development. Developmental

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Section: A Chemical Screen For Compounds Affecting Pigment Cell Develmentioning

confidence: 99%

Simple vertebrate models for chemical genetics and drug discovery screens: Lessons from zebrafish and Xenopus

Wheeler

Brändli

2009

Developmental Dynamics

158

131

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“…All the hairs of the forelock are white and the underlying skin is also amelanotic. Poliosis of the eyebrows and eyelashes is common [8,9]. Melanocytes are absent or considerably reduced in depigmented patches histologically and ultrastructurally.…”

Section: Clinical Featuresmentioning

confidence: 98%

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

Chatzinasiou¹,

Stratigos²

2015

Pigmentary Disorders

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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.

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“…In Waardenburg's syndrome premature greying may develop with or without a congenital white forelock similar to that seen in Piebaldism [43][44][45][46][47][48][49]. These mutations affects neural crest cells and impair the ability of melanoblasts to reach their final target sites (inner ear, eye, skin) during embryogenesis.…”

Section: Waardenburg's Syndromementioning

confidence: 99%

“…WS accounts for 2% to 5% of all congenital deafness cases [45]. Skin histopathology reveals an absence of melanocytes [44]. The irregular depigmented patches of WS patients can be treated cosmetically with topical pigmenting agents such as self-tanning products or with skin grafting [44].…”

Section: Waardenburg's Syndromementioning

confidence: 99%

“…These mutations affects neural crest cells and impair the ability of melanoblasts to reach their final target sites (inner ear, eye, skin) during embryogenesis. There is lateral displacement of the medial canthi (dystopia canthorum), a hypertrophic nasal root, deafness, and partial or total heterochromia of the iris [44]. WS accounts for 2% to 5% of all congenital deafness cases [45].…”

Section: Waardenburg's Syndromementioning

confidence: 99%

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Premature Greying of Hair (Premature Canities): A Concern for Parent and Child

Nigam¹,

Nigam²

2017

Pigmentary Disorders

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Hair goes grey with chronological aging. Premature hair greying may have significant adverse effects on the appearance, self-esteem, and socio-cultural acceptance of the affected individual. The exact aetiopathogenetic mechanism causing premature greying is still not clear and much speculative. Premature canities may appear alone as an autosomal dominant trait or it may occur in association with certain other disorders. The genes Pax3 and MITE play an important role in melanocyte stem cell maintenance and differentiation. Defective melanosomal transfer to the cortical keratinocytes or melanin incontinence due to melanocyte degeneration is also believed to contribute to greying. Despite the extensive molecular research being carried out to understand the pathogenesis of canities, treatment options still remain far from satisfactory and no effective therapy is available. Premature greying is a feature in a number of well recognised syndromes. A number of other conditions have also been observed to be associated with premature greying of hair.

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Piebaldism: an update

Cited by 68 publications

References 34 publications

Simple vertebrate models for chemical genetics and drug discovery screens: Lessons from zebrafish and Xenopus

Simple vertebrate models for chemical genetics and drug discovery screens: Lessons from zebrafish and Xenopus

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

Premature Greying of Hair (Premature Canities): A Concern for Parent and Child

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