Reticulated pigmentary changes in a patient with a variant form of Lesch-Nyhan disease

Alonso-González, J.; Hernández‐Martín, Ángela; García-Peñas, J J; Colmenero, Isabel; Torrelo, Antonio

doi:10.1111/j.1365-2230.2011.04271.x

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…There was a recent report that alterations in purine metabolism arising from impaired purine salvage had a relationship with neurobehavioral and cognitive impairments, such as Lesch-Nyhan disease [30]. Notably, patient with Lesch-Nyhan disease concurrently had cutaneous lesions with reticulated pigmentary changes [31]. In addition, our results also showed that the degree of the expression of INA was higher in melasma lesional skin compared with normal adjacent one.…”

Section: Discussionsupporting

confidence: 74%

Gene Expression Profiling in Melasma in Korean Women

Chung¹,

Noh²,

Yang³

et al. 2014

Dermatology

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Background: There has been a paucity of data about the difference in gene expression between melasma lesional skin and normal adjacent one. Objective: Our aim was to identify novel genes involved in the pathogenesis of melasma. Methods: We performed a microarray analysis and confirmed the results on quantitative real-time polymerase chain reaction (qRT-PCR) in Korean women with melasma. Results: There were 334 genes whose degree of expression showed a significant difference between melasma lesional skin and normal adjacent one. Of these, five were confirmed on qRT-PCR. In melasma lesional skin, there were down-regulation of genes involved in the PPAR signaling pathway and up-regulation of genes involved in neuronal component and the functions of stratum corneum barrier. Conclusion: This result suggests that the pathogenesis of melasma might be associated with novel genes involved in the above signaling pathway in Korean women.

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Section: Discussionsupporting

confidence: 74%

Gene Expression Profiling in Melasma in Korean Women

Chung¹,

Noh²,

Yang³

et al. 2014

Dermatology

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“…The HPRT1 gene encodes hypoxanthine-guanine phosphoribosyltransferase, which is involved in the purine salvage pathway by catalyzing the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate [31]. Although there has been no research on the relationship between GDA and skin pigmentation, Lesch-Nyhan disease (in which HPRT1 gene mutation with subsequent alterations in purine metabolism exist) presents with reticulated skin dyspigmentation and may suggest the role of GDA in skin pigmentation [31,32]. Therefore, in this study, we analyzed the possible involvement of KC-derived GDA in hyperpigmentation.…”

Section: Introductionmentioning

confidence: 99%

Guanine Deaminase in Human Epidermal Keratinocytes Contributes to Skin Pigmentation

Jung

Noh

et al. 2020

Molecules

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Epidermal keratinocytes are considered as the most important neighboring cells that modify melanogenesis. Our previous study used microarray to show that guanine deaminase (GDA) gene expression is highly increased in melasma lesions. Hence, we investigated the role of GDA in skin pigmentation. We examined GDA expression in post-inflammatory hyperpigmentation (PIH) lesions, diagnosed as Riehl’s melanosis. We further investigated the possible role of keratinocyte-derived GDA in melanogenesis by quantitative PCR, immunofluorescence staining, small interfering RNA-based GDA knockdown, and adenovirus-mediated GDA overexpression. We found higher GDA positivity in the hyperpigmentary lesional epidermis than in the perilesional epidermis. Both UVB irradiation and stem cell factor (SCF) plus endothelin-1 (ET-1) were used, which are well-known melanogenic stimuli upregulating GDA expression in both keratinocyte culture alone and keratinocyte and melanocyte coculture. GDA knockdown downregulated melanin content, while GDA overexpression promoted melanogenesis in the coculture. When melanocytes were treated with UVB-exposed keratinocyte-conditioned media, the melanin content was increased. Also, GDA knockdown lowered SCF and ET-1 expression levels in keratinocytes. GDA in epidermal keratinocytes may promote melanogenesis by upregulating SCF and ET-1, suggesting its role in skin hyperpigmentary disorders.

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Inborn Errors of Metabolism

Paller

Mancini

2016

Hurwitz Clinical Pediatric Dermatology

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Reticulated pigmentary changes in a patient with a variant form of Lesch-Nyhan disease

Cited by 3 publications

References 5 publications

Gene Expression Profiling in Melasma in Korean Women

Gene Expression Profiling in Melasma in Korean Women

Guanine Deaminase in Human Epidermal Keratinocytes Contributes to Skin Pigmentation

Inborn Errors of Metabolism

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