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

Abstract

Langerhans cell histiocytosis (LCH) is a rare disease. In the adult population, isolated pulmonary presentation predominates. The course of the disease can be variable, ranging from mild and self-limited cases 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 of bullous emphysema of undetermined cause, which evolved to respiratory failure and evaluation for bilateral pulmonary transplantation. Three years later, he developed bilateral pneumonia requiring mechanical ventilation. When refractory hypoxemia ensued, he had to be placed on extracorporeal veno-venous membrane oxygenation assistance (VV ECMO). Under these conditions he was transferred to our center and included in the waiting list for a bilateral pulmonary transplantation. Forty-eight hours after admission, and due to intense polyuria, central diabetes insipidus was diagnosed. In this clinical context, the presence of cutaneous lesions on the scalp were reconsidered and biopsied under the presumption of possible LCH, with pathology analysis confirming the diagnosis. He continued to be assisted with VV ECMO for 66 more days as a bridge to transplantation, developing multi-organ failure and passing away before a donor organ was available. The diagnosis of LCH should be considered in any adult patient with bullous emphysema of undetermined cause. Given the possibility of early therapeutic interventions, the search for its clinical associations (such as diabetes 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 the diagnostic approach.