Multisystem Langerhans cell histiocytosis in adults: the significance of cutaneous manifestations in early diagnosis

Langerhans cell histiocytosis is a rare disease characterized by the proliferation of Langerhans cells in various organs and tissues, including the skin, bones, lungs, and pituitary gland. The precursor cell, as recent studies have shown, is the myeloid dendritic cell. The severity of the disease is mainly determined by the extent and nature of organ involvement, as well as the number of systems affected. Diagnosis of Langerhans cell histiocytosis requires a comprehensive approach (clinical evaluation, histological analysis, immunohistochemical studies, radiological methods and molecular genetic tests).

This article presents a clinical case of a 28-year-old female patient with multisystem Langerhans cell histiocytosis, whose nonspecific skin eruptions were misdiagnosed as seborrheic dermatitis for five years. An inadequate reaction to glucocorticosteroid treatment, along with the presence of comorbid conditions such as diabetes insipidus and severe bullous lung lesions, necessitated additional diagnostic investigations. The final diagnosis was established after immunohistochemical examination of skin and lung biopsies, which revealed the expression of CD68 and CD1a in infiltrating cells.

It is important to emphasize that skin manifestations are often the first symptom of a multisystem process. Early recognition of Langerhans cell histiocytosis and timely diagnosis can significantly affect the course of the disease and improve the patient's quality of life.