RESUMO
Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.
Assuntos
Transportadores de Ânions Orgânicos , Osteoartropatia Hipertrófica Primária , Humanos , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Primária/genética , Transportadores de Ânions Orgânicos/genética , Genótipo , Fenótipo , Mutação de Sentido IncorretoRESUMO
Purpose of Review: To review recent literature on Malassezia folliculitis and explore its association with COVID-19. Recent Findings: Reports of Malassezia folliculitis in the setting of COVID-19 are scarce. Shared characteristics between affected individuals include male sex, obesity, intensive care, and administration of systemic antibiotics and systemic steroids. Dexamethasone can potentially stimulate sebum production and therefore lead to Malassezia proliferation. The clinical picture of Malassezia folliculitis accompanying COVID-19 is similar to classic descriptions but tends to spare the face and predominates in occlusion sites. Summary: Malassezia folliculitis is under-recognized. Fever, sweating, occlusion, immobility, antibiotics, and dexamethasone contribute to COVID-19 patients developing Malassezia folliculitis. Antifungal therapy, together with correcting predisposing factors, is the mainstay of management. Future research should explore the relationship between systemic steroids and other acneiform reactions.
RESUMO
Because several nail disorders share similar clinical features, their diagnosis and management can be challenging to clinicians. The physical examination may disclose localized abnormalities or point to an underlying systemic disease, requiring additional workup. Furthermore, cosmetic distress and nail-related symptoms (e.g., tingling, stinging, numbness, and pain) are common factors that influence the patient's search for medical assistance. Nail pain (i.e., onychalgia) can accompany both localized and systemic pathology. Onychalgia can be acute or chronic according to the time of evolution; patients may describe it as intermittent or constant, and as a throbbing, burning, sharp, or shooting sensation denoting the nature of the pain. It may be exacerbated by colder temperatures, touch, and increased activity (e.g., manipulating objects, walking). We present four main groups of conditions that might cause nail pain: nail tumors, nail deformities, inflammatory or infectious diseases, and external or traumatic agents. Our article includes an overview of the clinical features, as well as diagnosis and management pearls for each entity. Physicians (dermatologists and nondermatologists) should be aware that abnormalities of the ungual and subungual space are not exclusive of dermatological disorders but may also be present in noncutaneous contexts.