Chronic mucocutaneous candidiasis (CMC) is a rare infectious skin disease. This study reported a case of CMC in a child with clinical manifestations of oral mucosal leukoplakia and erythema and crust-like thick scabs on the skin of the face and upper limbs. Microscopic fungal examination revealed a large amount of pseudohyphae, and the fungal culture indicated . A drug sensitivity test indicated that it was sensitive to itraconazole and nystatin. Laboratory tests did not show significant immunodeficiency or endocrine abnormalities, and gene sequencing did not identify DNA gene mutations in the coiled-coil domain (CCD) or the DNA-binding domain (DBD) of signal transducer and activator of transcription 1 (STAT1). The skin lesions subsided after oral administration of itraconazole but relapsed 6 months later, and hypoparathyroidism occurred 1 year later. Patients with repeated superficial fungal infection should be alert to the possibility of CMC. CMC has numerous complications and a poor prognosis that requires the attention of clinicians. In this case, STAT1 mutation was not found, and parathyroid dysfunction was rare, providing reference for clinical diagnosis and treatment of CMC.
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http://dx.doi.org/10.2147/CCID.S396802 | DOI Listing |
Biomedica
December 2024
Laboratorio de Inmunodeficiencias, Instituto Nacional de Pediatría, Ciudad de México, México.
STAT1 is a cytoplasmic transcription factor associated with cell growth regulation, differentiation, proliferation, metabolism, and apoptosis. IFN-mediated JAK/STAT signaling pathway is involved in eliminating intracellular pathogens and viruses. However, pathogenic variants in STAT1 can result in impaired or increased function.
View Article and Find Full Text PDFRev Med Liege
January 2025
Service d'Hématologie clinique, CHU 20 Août, Casablanca, Maroc.
We conducted a retrospective study of 83 cases of immune thrombocytopenia (IT) in patients under 20 years of age. The aim was to provide an overview of IT in our young patients. The median age was 10 years, with a predominance of females (71 %).
View Article and Find Full Text PDFNed Tijdschr Geneeskd
January 2025
Maasstad Ziekenhuis, afd. Kindergeneeskunde, Rotterdam.
This case concerns a boy presenting with oral pain and multiple mucocutaneous lesions such as mucositis, conjunctivitis, and a rash on the trunk, extremities, and genitalia. The presence of mild respiratory complaints raised suspicion of an extrapulmonary manifestation of , known as -induced Rash and Mucositis (MIRM). The patient underwent conservative treatment and was monitored to prevent chronic sequels such as ocular damage or sicca keratoconjunctivits.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.
Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene.
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
January 2025
Department of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Introduction: Oral lichen planus (OLP) is a chronic inflammatory mucocutaneous condition that includes a spectrum of oral clinical manifestations ranging from mild painless white lesions to painful erosions and ulcers. The purpose of this European multicenter study is to describe the general characteristics of OLP lesions, the clinical and histopathological diagnosis, and the management of OLP at different European Oral Medicine and Maxillofacial Surgery centers, in order to minimize selections biases and provide information about the current trends in the treatment of OLP across Europe.
Materials And Methods: Data and histopathological records of patients with OLP were retrospectively revised and only those patients that fulfilled the diagnostic criteria from the 2016 position paper by American Academy of Oral and Maxillofacial Pathology were included.
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