10/Nov/2023
A peculiar case of onychomycosis caused by Cladosporium halotolerans
DOI: 10.31744/einstein_journal/2023RC0326
ABSTRACT A 49-year-old patient with changes in the nails of the hallux for 10 years was diagnosed with onychomycosis. The identity of the causative agent was confirmed as Cladosporium halotolerans from the Cladosporium sphaerospermum species complex using molecular techniques. MALDI-TOF identified the agent as C. sphaerospermum complex species. Overall, species such as onychomycosis agents should attract special attention to avoid mistakes in the identification process while considering a probable contaminant as responsible for the disease. These species deserve attention since […]
Keywords: Cladosporium; Cladosporium halotolerans; Cladosporium sphaerospermum; Nail diseases; Onychomycosis; Phenotype; Spectrometry, mass, matrix-assisted laser desorption-ionization
10/Nov/2023
Phenocopy in a patient with triple negative breast cancer: a case report
DOI: 10.31744/einstein_journal/2023RC0319
ABSTRACT A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%–10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c.1813delA, p.Ile605TyrfsTer9 in BRCA2 […]
Keywords: Breast neoplasms; Genes BRCA1; Genes BRCA2; Genetic predisposition to disease; Mutation; Phenotype