Year: 2024
Type: article
Study design: Case Report
Abstract: K. Payano: None. N. Bloomgarden: None. A.K. Myers: None. Introduction: Neurofibromatosis 1 is an autosomal dominant condition due to a mutation in the NF1 gene on chromosome 17, normally presenting in childhood with complete penetrance by age 5. Its earliest phenotypic manifestations include six or more café-au-lait macules and/or skinfold freckling. This patient population is also at greater risk for gastrointestinal stromal tumors (GIST) or pheochromocytoma. While the skin findings present in NF1 are distinctive, dermatologic atlases have traditionally displayed photographs of people with Fitzpatrick Skin Type 2. This case exemplifies the importance of increased inclusivity in the representation of classic findings in diseases. Clinical Case: A 49-year-old male from Jamaica with a PMH of HTN, CAD, obesity (BMI 34) and osteoarthritis presented for evaluation of fluctuating blood pressure from his primary care provider. He denied any palpitations, headaches, diaphoresis, or dizziness. Medications included enalapril 20mg po bid, amlodipine 10 mg po daily, fish oil, iron, and apple cider vinegar. Biochemical evaluation identified elevations in plasma metanephrines 127 pg/mL (ULN <57 pg/mL) and normetanephrines 577 pg/mL (ULN <148 pg/mL). He subsequently underwent dedicated MRI with adrenal protocol which revealed a left 1.4 cm vascular, T2 hyperintense nodule without signal loss on out of phase imaging. He was also noted to have a T2 intense 2.4 x 2.8 cm vascular mass inseparable from a small loop of bowel. Based upon the imaging findings, he returned for discussion and a more comprehensive physical exam which revealed numerous hyperpigmented macules across his upper back and flank with innumerable neurofibromas. Based upon this re-evaluation, a unifying diagnosis of NF1 was suspected and further confirmed with genetic testing. The patient underwent left adrenalectomy and removal of a large GIST of the small bowel with resolution of his uncontrolled hypertension. Four months later he had a thyroidectomy for a 0.9cm papillary thyroid carcinoma, encapsulated follicular variant with invasion in the right lobe. He has subsequently been referred for additional screening for a person with NF1. Conclusion: This case exemplifies the importance of a detailed history and physical exam which accounts for the possibility of missing a diagnosis, often identified within childhood. While our patient’s skin findings were distinctive, the location and subtlety of darkened macules in a person of color may not be something providers have been taught to identify. This patient’s late diagnosis of a hereditary disease emphasizes that extra care should be taken especially in patients of color where skin manifestations may be visually distinct. Exposure to distinct visual presentations of skin manifestations in darker skin is needed, whether that be through more case reports, training materials, and images that represent diverse patient populations in textbooks. Saturday, June 1, 2024
Source: Journal of the Endocrine Society
Authors: K Payano, N Bloomgarden, A K Myers
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,418
OpenAlex ID: W4409965606