Publications by authors named "M E Fernandez De Cossio"

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients.

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Background: Vitamin D (VD) deficiency is common among patients with atopic dermatitis (AD) and often associated with severity. However, randomized trials of VD supplementation in AD have had equivocal results, and there is little information regarding the effect of VD supplementation on type 2 immunity in AD patients.

Objectives: To investigate the efficacy of VD supplementation to decrease severity of AD and to alter type 2 immunity biomarkers.

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PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

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A twenty-two-year-old woman with a history of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) on rituximab presented with fever, abdominal pain, and worsening shortness of breath requiring supplemental oxygen via nasal cannula one month after a severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) infection from which she was minimally symptomatic and had recovered. Radiographic studies revealed bilateral patchy consolidations interspersed with ground-glass opacities (GGO). She was started on antibiotics for presumed community-acquired pneumonia with no improvement.

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Skin lesions are not uncommon in children, and most of them are benign. However, they can be a matter of concern. Although in most cases the diagnosis can be suspected based on clinical history and physical examination, in some cases clinical findings are nonspecific.

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