Literature DB >> 25219651

Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies.

Su Luo1, Hensin Tsao2.   

Abstract

Growing evidence demonstrates that various nevoid proliferations such as keratinocytic epidermal nevi and nevus sebaceous result from somatic mosaicism. Many of the mutations identified have been within the RAF/RAS/MAPK pathway, hence supporting the previously introduced term "mosaic RASopathy" for these nevi. In this issue, Kinsler et al. were among the first to characterize certain pigmented melanocytic nevi that may also fit this paradigm. To better frame these findings, we provide a summary of the analogous genotypic profiles for epidermal and melanocytic nevi from recent studies.

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Year:  2014        PMID: 25219651     DOI: 10.1038/jid.2014.244

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  16 in total

1.  HRAS mutation mosaicism causing urothelial cancer and epidermal nevus.

Authors:  Christian Hafner; Agusti Toll; Francisco X Real
Journal:  N Engl J Med       Date:  2011-11-17       Impact factor: 91.245

2.  Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

Authors:  Leopold Groesser; Eva Herschberger; Arno Ruetten; Claudia Ruivenkamp; Enrico Lopriore; Markus Zutt; Thomas Langmann; Sebastian Singer; Laura Klingseisen; Wulf Schneider-Brachert; Agusti Toll; Francisco X Real; Michael Landthaler; Christian Hafner
Journal:  Nat Genet       Date:  2012-06-10       Impact factor: 38.330

3.  Activating HRAS mutation in nevus spilus.

Authors:  Kavita Y Sarin; Jennifer M McNiff; Shirley Kwok; Jinah Kim; Paul A Khavari
Journal:  J Invest Dermatol       Date:  2014-01-03       Impact factor: 8.551

4.  Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.

Authors:  Kavita Y Sarin; Bryan K Sun; Charles D Bangs; Athena Cherry; Susan M Swetter; Jinah Kim; Paul A Khavari
Journal:  JAMA Dermatol       Date:  2013-09       Impact factor: 10.282

5.  Nevus sebaceus is a mosaic RASopathy.

Authors:  Rudolf Happle
Journal:  J Invest Dermatol       Date:  2013-03       Impact factor: 8.551

Review 6.  Mosaicism in human skin. Understanding the patterns and mechanisms.

Authors:  R Happle
Journal:  Arch Dermatol       Date:  1993-11

7.  Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Authors:  Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate
Journal:  Hum Mol Genet       Date:  2013-09-04       Impact factor: 6.150

8.  Agminated segmental nevi demonstrating intranevic concordance of BRAF status.

Authors:  Su Luo; Anna C Chaplin; Richard G B Langley; Ching-Ni Njauw; Lyn M Duncan; Robert A Miller; Hensin Tsao
Journal:  J Invest Dermatol       Date:  2010-12-16       Impact factor: 8.551

9.  Phacomatosis pigmentokeratotica is a "pseudodidymosis".

Authors:  Rudolf Happle
Journal:  J Invest Dermatol       Date:  2013-08       Impact factor: 8.551

10.  Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies.

Authors:  Veronica A Kinsler; Sven Krengel; Jean-Baptiste Riviere; Regula Waelchli; Carolina Chapusot; Lara Al-Olabi; Laurence Faivre; Holger A Haenssle; Lisa Weibel; Géraldine Jeudy; Pierre Vabres
Journal:  J Invest Dermatol       Date:  2014-04-21       Impact factor: 8.551

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  2 in total

1.  Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

Authors:  Reinhard E Friedrich; Martin Gosau; Andreas M Luebke; Christian Hagel; Felix K Kohlrusch; Michael Hahn; Simon VON Kroge; Jan Hahn; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2022 Jan-Feb       Impact factor: 2.155

Review 2.  DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

Authors:  Luis F de Castro; Diana Ovejero; Alison M Boyce
Journal:  Eur J Endocrinol       Date:  2020-05       Impact factor: 6.664

  2 in total

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