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Inherited Reticulate Pigmentary Disorders.
Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S. Lin MH, et al. Genes (Basel). 2023 Jun 20;14(6):1300. doi: 10.3390/genes14061300. Genes (Basel). 2023. PMID: 37372478 Free PMC article. Review.
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditar
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigm
Reticulate hyperpigmentation.
Schnur RE, Heymann WR. Schnur RE, et al. Semin Cutan Med Surg. 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. Semin Cutan Med Surg. 1997. PMID: 9125768 Review.
Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. ...Other reticulate pigmentary disorders reviewed include the Naegeli-Franceschetti-Jadassohn syndrome, X-linked reticulate pigmentary
Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. ...Other reticulate pigmentar
Updated review of genetic reticulate pigmentary disorders.
Zhang J, Li M, Yao Z. Zhang J, et al. Br J Dermatol. 2017 Oct;177(4):945-959. doi: 10.1111/bjd.15575. Epub 2017 Sep 27. Br J Dermatol. 2017. PMID: 28407215 Review.
Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis un
Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules wi
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
Pezzani L, Brena M, Callea M, Colombi M, Tadini G. Pezzani L, et al. Am J Med Genet A. 2013 Jun;161A(6):1414-20. doi: 10.1002/ajmg.a.35882. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613254 Review.
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by ret
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatos
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX, Song HM. Yu ZX, et al. World J Pediatr. 2020 Feb;16(1):44-51. doi: 10.1007/s12519-019-00273-z. Epub 2019 Aug 3. World J Pediatr. 2020. PMID: 31377974 Review.
RESULTS: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorde
RESULTS: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of …
Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.
Starokadomskyy P, Escala Perez-Reyes A, Burstein E. Starokadomskyy P, et al. J Clin Immunol. 2021 Feb;41(2):285-293. doi: 10.1007/s10875-020-00953-w. Epub 2021 Jan 3. J Clin Immunol. 2021. PMID: 33392852 Free PMC article. Review.
While complete deficiency of this essential gene is presumed to be lethal, at least two conditions due to partial POLA1 deficiency have been described. The first genetic syndrome to be mapped to POLA1 was X-linked reticulate pigmentary disorder
While complete deficiency of this essential gene is presumed to be lethal, at least two conditions due to partial POLA1 deficiency have been …
X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.
Anderson RC, Zinn AR, Kim J, Carder KR. Anderson RC, et al. Pediatr Dermatol. 2005 Mar-Apr;22(2):122-6. doi: 10.1111/j.1525-1470.2005.22206.x. Pediatr Dermatol. 2005. PMID: 15804299 Review.
Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. ...The sister, age 2 years, had congenital linear hyperpigmented patche …
Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse ret
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M, Bielinsky AK. Schmit M, et al. Int J Mol Sci. 2021 Jan 18;22(2):911. doi: 10.3390/ijms22020911. Int J Mol Sci. 2021. PMID: 33477564 Free PMC article. Review.
Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. While cancer is the most common class of disease associated with genomic instability, several congenital diseases …
Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such …