Megaconial congenital muscular dystrophy (MCMD) is a rare autosomal-recessive multisystem disorder characterized by delayed motor development, intellectual disability, and skin involvement. We report a patient with MCMD who had diffuse ichthyosis-like scaling, and successfully responded to ustekinumab.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
June 2024
A case of mpox pharyngitis in absence of cutaneous lesions is reported. Usually, clinical presentation is either a cutaneous eruption or a combination of cutaneous and mucosal lesions. In patients with atypical pharyngitis, regardless of the presence of skin lesions, pharyngeal swabs should be collected to rule out mpox.
View Article and Find Full Text PDFEnferm Infecc Microbiol Clin (Engl Ed)
October 2024
Scalp melanomas (SM) have been previously associated with poor overall and melanoma-specific survival rates. The aim of this study was to describe and compare the clinicopathological characteristics and survival outcomes of SM and non-scalp cutaneous head and neck melanoma (CHNM). An observational multi-center retrospective study was designed based on patients with CHNM followed in two tertiary care hospitals.
View Article and Find Full Text PDFBackground And Objectives: The increasing use of biologics in the treatment of inflammatory diseases has led to more cases of leishmaniasis in patients subjected to iatrogenic immunosuppression. The main objective was to describe the characteristics of the patients with cutaneous (CL) or mucocutaneous (MCL) leishmaniasis who were receiving a biological therapy at the time of diagnosis.
Patients And Methods: A multicenter retrospective study was design based on a cohort of patients diagnosed with CL or MCL.
Multiple primary melanomas (MPM) refer to the occurrence of more than one synchronous or metachronous melanoma in the same individual. The aim of this study was to identify the frequency of MPM and describe the clinical and histopathologic characteristics of patients with MPM. An observational single-center retrospective study was designed based on a cohort of melanoma patients followed in a tertiary care hospital.
View Article and Find Full Text PDFThe association of multiple pilomatricomas with xeroderma pigmentosum has not been described. We report a case of a child with multiple pilomatricomas and photosensitivity who was found to have a pathogenic variant in exon 4 of XPA and a likely pathogenic variant in COL6A1.
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