Work

When the Skin Tells a Pulmonary Story: A Case of Neurofibromatosis Type 1-Associated Pulmonary Hypertension

Year: 2025

Type: article

Abstract: Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder with cutaneous, neurologic, and skeletal manifestations. Pulmonary hypertension (PH) is an uncommon but severe complication of NF1 and is classified as Group 5 PH due to its multifactorial and incompletely understood pathogenesis. We report a case of a 24-year-old female with a known history of NF1 who presented with progressive dyspnea, orthopnea, and lower extremity edema. Physical examination revealed classical NF1 features, including multiple café-au-lait macules, cutaneous neurofibromas, axillary freckling, and skeletal deformity. Imaging studies demonstrated severe pulmonary hypertension with enlarged pulmonary arteries, right ventricular dilation, and extensive cystic changes in both lungs, in the absence of thromboembolic disease. Echocardiography confirmed elevated right-sided pressures and right heart strain. Based on clinical, radiologic, and echocardiographic findings, a diagnosis of Group 5 PH associated with NF1 (PH-NF1) was made. Targeted PH therapy (endothelin receptor antagonists and phosphodiesterase-5 (PDE-5) inhibitors) was considered; however, due to limited evidence of benefit and potential risk in NF1-associated parenchymal lung disease, therapy was deferred in favor of conservative management with oxygen therapy and diuretics, and the patient was referred for pulmonary and cardiac rehabilitation. This case highlights the diagnostic complexity and therapeutic challenges associated with PH-NF1, a condition likely driven by a combination of vascular remodeling, parenchymal destruction, and genetic factors. Early recognition and multidisciplinary management are essential to improving outcomes in patients with this rare and progressive complication of NF1.

Source: Cureus

DOI: 10.7759/cureus.98338

Authors: Yasser Hegazy, Alshaimaa Abdallah, Ahmed Salem, Ali Assaker, Ahmed Elmogy

Institutions: Queens Hospital Center, Mount Sinai Queens, Icahn School of Medicine at Mount Sinai, Cairo University

Language: English

Topic: Pulmonary Hypertension Research and Treatments

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7108327470