Search results for "naevus"

showing 3 items of 3 documents

Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

2016

International audience; Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In contrast with Schimmelpenning syndrome, no cerebral, ocular or skeletal anomalies have hitherto been reported. We report two unrelated fetuses with PPSN, one with large pink exophytic tumours, the other with minor features but similar microscopic findings. We performed whole-exome sequencing in affected skin tissue from fetus 1, which identified a postzygotic de novo FGFR2 c.1144T>C (p.Cys382Arg) mutation in 34[middle dot]6% of reads which was absent in the parents' blood. Targeted deep sequencing of FGFR2 confirmed i…

0301 basic medicinePathologymedicine.medical_specialtypapillomatousDermatologyBiologymedicine.disease_causeDeep sequencing030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinePPSN[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicineNevusMissense mutationnaevusHRASFetusMutationintegumentary systemmedicine.disease3. Good health030104 developmental biologymedicine.anatomical_structureSchimmelpenning syndromeScalp[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Genetic 3’UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight

2017

Sunlight exposure induces signalling pathways leading to the activation of melanin synthesis and tanning response. MicroRNAs (miRNAs) can regulate the expression of genes involved in pigmentation pathways by binding to the complementary sequence in their 3'untranslated regions (3'UTRs). Therefore, 3'UTR SNPs are predicted to modify the ability of miRNAs to target genes, resulting in differential gene expression. In this study, we investigated the role in pigmentation and sun-sensitivity traits, as well as in melanoma susceptibility, of 38 different 3'UTR SNPs from 38 pigmentation-related genes. A total of 869 individuals of Spanish origin (526 melanoma cases and 343 controls) were analysed.…

0301 basic medicineSkin NeoplasmsSNPSingle-nucleotide polymorphismSkin PigmentationDermatologyBiologyBiochemistryPolymorphism Single NucleotideWhite People03 medical and health sciencesGene FrequencyRisk FactorsWnt3A ProteinmicroRNAGene expressionGenotypeSNPHumansGenetic Predisposition to DiseasePhotosensitivity DisordersRNA MessengerHair ColorNaevusMolecular BiologyGene3' Untranslated RegionsMelanomaSolar lentiginesAdaptor Proteins Signal TransducingGeneticsLentigoBinding SitesEye ColorThree prime untranslated regionMicroRNAProtective Factors3' untranslated regionPhenotypeMicroRNAs030104 developmental biologyPhenotypeSpainCase-Control Studies
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Naevus Comedonicus Immunohistochemical Features in Two Cases

2003

Sir, Naevus comedonicus was first described by Kofmann in 1895 (1). It was arranged in groups or linear patterns along Blaschko’s line and located on the face, neck, upper arms, chest and abdomen. It has been well documented that naevus comedonicus occurs as a single entity but occasionally in association with other disorders. The objective of this study was to analyse the clinical and immunohistochemical features of two patients with extensive naevus comedonicus arranged in groups and linear patterns without non-cutaneous abnormalities.

Upper Armsgenetic structuresSingle entitybusiness.industryMedicineImmunohistochemistryDermatologyGeneral MedicineAnatomyskin and connective tissue diseasesbusinesseye diseasesNaevus comedonicusActa Dermato-Venereologica
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