Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Pan, Hongqiu; Wang, Zizheng; He, Bangshun; Chen, Chen; Hong, Bing; Chen, Wenqi; Ji, Chao; He, Shaoheng; Wang, Shukui; Chen, Xingguo

doi:10.1016/j.jaad.2009.08.065

Cited by 4 publications

(1 citation statement)

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“…The phenotype resembles DSH [14,18], but differs in affecting the palms and soles, areas with no or low UV burden. Additionally, we excluded mutations in the disease-causing gene ADAR [19,20,21,22,23,24,25,26,27,28], which makes the diagnosis of dyschromatosis hereditaria rather unlikely. The list of differential diagnoses of spotty epidermal hyper- or hypopigmentation is long [3,11].…”

Section: Discussionmentioning

confidence: 99%

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

Arnold

Kern²,

Itin³

et al. 2012

Dermatology

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We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases with acral hypo- or hyperpigmentation. We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity.

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Section: Discussionmentioning

confidence: 99%

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

Arnold

Kern²,

Itin³

et al. 2012

Dermatology

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The Genetic Determination of Skin Pigmentation: KITLG and the KITLG/c-Kit Pathway as Key Players in the Onset of Human Familial Pigmentary Diseases

Picardo

Cardinali

2011

Journal of Investigative Dermatology

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Cutaneous pigmentation is regulated by a complex melanogenic network in which skin cells synthesize growth factors and cytokines. Mutations in genes encoding these regulators modify their expression and/or functionality, leading to altered signaling pathways and contributing to altered skin phenotypes. In this issue, Amyere et al. report a genome-wide analysis of seven families with familial progressive hyperpigmentation and hypopigmentation, identifying three new mutations in KITLG. The study underlines the relevance of investigating candidate genes implicated in the onset of pigmentary disorders. Furthermore, Amyere et al. suggest that different pigmentary diseases can result from the same mutation or different mutations in the same gene, and they offer hope for the development of new and efficacious treatment strategies.

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Dyschromatosis symmetrica hereditaria

Hayashi

Suzuki

2012

The Journal of Dermatology

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Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from East Asian countries, including Japan, China and Taiwan. Its symptoms are mixed hyper-and hypopigmented macules on the dorsal aspect of the hands and feet and freckle-like macules on the face. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (ADAR1). The ADAR1 protein catalyzes the transformation of adenosine to inosine in dsRNA substrates (so-called A-to-I editing) and is involved in various activities, such as viral inactivation, structural change of the protein and the resultant cell survival. However, its function in the skin and role in the development of DSH are still unknown. To date, more than 100 mutations of ADAR1 have been reported in patients with DSH, and the catalytic domain deaminase is believed to be crucial to the activities of this gene. Some complications of DSH have been reported and, intriguingly, several patients have been reported to develop neurological symptoms, such as dystonia and mental deterioration. Because ADAR1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR1, which will have significant scientific implications.

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Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Cited by 4 publications

References 4 publications

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

The Genetic Determination of Skin Pigmentation: KITLG and the KITLG/c-Kit Pathway as Key Players in the Onset of Human Familial Pigmentary Diseases

Dyschromatosis symmetrica hereditaria

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