Publications by authors named "Cynthia J Burk"

Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC) is a rare syndrome that was first delineated as distinct from Cutis Marmorata Telangiectatica Congenita (CMTC) in 1997. Since that time, there have been over 75 cases reported in the literature, though few are in the dermatology literature. The syndrome is characterized by macrocephaly, neonatal hypotonia, developmental delay, segmental overgrowth, syndactyly, asymmetry, connective tissue defects, and vascular stains.

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Severe combined immunodeficiency (SCID) often presents with mucosal infections, cutaneous infections and eczematous rashes. We present two patients with history of SCID diagnosed at an early age who experienced diffuse dyschromia associated with their bone marrow and stem cell transplants. Dyschromias may be caused by numerous factors including medications, genetics, environmental contacts, or as a sequela of underlying chronic disease.

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Addison's disease, or chronic adrenocortical insufficiency, is the overproduction of adrenocorticotropic hormone by the pituitary gland as a compensatory mechanism for decreased cortisol production by the adrenal glands. Classically, patients affected with Addison's disease develop weakness, anorexia, electrolyte imbalances: decreased sodium and chloride with increased serum potassium resulting in hypotension, and hyperpigmentation of the skin and mucous membranes. Herein this case report, we focus on the subtle findings of diffuse hyperpigmentation and intermittent but repetitive "flu-like" symptoms in two patients to correctly identify the diagnosis of Addison's disease effectively and efficiently.

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The burden of children suffering from chronic severe dermatitis and especially from undiagnosed confounding allergic contact dermatitis can be overwhelming for not only the patients and their families but also for their dermatologists. We report our protocol for pediatric patch testing and three pediatric cases, with severe and recalcitrant dermatitis unresponsive to systemic therapies, in whom comprehensive patch testing played a key role in management. Comprehensive patch testing allowed for the culprit allergens to be detected and subsequently avoided.

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Kaposiform hemangioendothelioma was initially described in 1979 and is a rare pediatric vascular tumor that may be associated with Kasabach-Merrit phenomenon. We present a newborn boy who had a large vascular lesion over his left iliac crest without evidence of retroperitoneal involvement or inguinal lymphadenopathy. We briefly review the neoplasm's unique characteristics, histopathology, prognosis, and treatments.

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Ascorbic acid (vitamin C) is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. Scurvy, a disease of dietary ascorbic acid deficiency, is uncommon today. Indeed, implementation of dietary recommendations largely eradicated infantile scurvy in the US in the early 1900s.

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