Late Diagnosis of Langerhans Cell Histiocytosis by Skin Biopsy in a Lung Transplant Candidate Patient

KLEIN, FRANCISCO R; KLEIN, JULIA; OTALORA LOZANO, DIEGO; VIGLIANO, CARLOS

Cureus

Cureus, Inc

Lugar: California; Año: 2024

angerhans cell histiocytosis (LCH) is a rare disease. In the adult population, isolated pulmonarypresentation predominates. The course of the disease can be variable, ranging from mild and self-limitedcases to potentially fatal respiratory manifestations, with some individuals requiring lung transplantation.A 20-year-old patient started 3 years before his admission with progressive dyspnea leading to a diagnosis ofbullous emphysema of undetermined cause, which evolved to respiratory failure and evaluation for bilateralpulmonary transplantation. Three years later, he developed bilateral pneumonia requiring mechanicalventilation. When refractory hypoxemia ensued, he had to be placed on extracorporeal veno-venousmembrane oxygenation assistance (VV ECMO). Under these conditions he was transferred to our center andincluded in the waiting list for a bilateral pulmonary transplantation. Forty-eight hours after admission, anddue to intense polyuria, central diabetes insipidus was diagnosed. In this clinical context, the presence ofcutaneous lesions on the scalp were reconsidered and biopsied under the presumption of possible LCH, withpathology analysis confirming the diagnosis. He continued to be assisted with VV ECMO for 66 more days asa bridge to transplantation, developing multi-organ failure and passing away before a donor organ wasavailable.The diagnosis of LCH should be considered in any adult patient with bullous emphysema of undeterminedcause. Given the possibility of early therapeutic interventions, the search for its clinical associations (such asdiabetes insipidus and/or skin lesions) should be a systematic part of the etiologic workup.The availability of skin specimens to reach a diagnosis make its thorough search an important part of thediagnostic approach.