Adult-onset perianal Langerhans cell histiocytosis presenting as pruritus ani: a case report and review of the literature

Marah Hamdan,Jesse C Qiao,Vid Fikfak

doi:10.1186/s13256-021-02924-0

Abstract

BackgroundLangerhans cells belong to the histiocytic system and give rise to two tumors: Langerhans cell histiocytosis and Langerhans cell sarcoma. Clinical aggressiveness and degree of atypia distinguish the two neoplasms. Langerhans cell histiocytosis can infiltrate a single or multiple organ systems and particularly affects bone, skin, and lymph nodes. Perianal cutaneous Langerhans cell histiocytosis is a rare condition in adults, with 15 cases reported in the literature.CaseWe present the case of a 50-year-old hispanic man who presented with a 9-month history of pruritus ani and a personal history of diabetes insipidus. Punch biopsy confirmed a lesion of Langerhans cells origin but could not exclude Langerhans cell sarcoma because of limited sample size. An additional biopsy was planned as well as a positron emission tomography scan to determine the extent of disease spread. While the patient failed to follow up for repeat biopsy, the positron emission tomography scan was performed and was negative for metastatic disease. A stable perianal lesion of Langerhans cell histiocytosis with benign clinical features in a 50-year-old male despite lack of treatment is extremely rare and has not been described in the literature so far. Here, we review the presentation and workup of patients with Langerhans cell histiocytosis, review the relevant literature, and discuss treatment planning.ConclusionPerianal Langerhans cell histiocytosis is rare, and there should be a high index of suspicion with chronic or new perianal lesions, especially in a patient with a history of diabetes insipidus. It is also important to consider the patient’s full clinical course when it is not possible to reach a definitive pathological diagnosis before management.

Highlights

Perianal Langerhans cell histiocytosis is rare, and there should be a high index of suspicion with chronic or new perianal lesions, especially in a patient with a history of diabetes insipidus
Langerhans cell histiocytosis (LCH) and Langerhans cell sarcoma (LCS) both originate from Langerhans antigen-presenting cells
Cutaneous LCH has been previously associated with diabetes insipidus (DI), a disorder of water balance in the kidneys characterized by polyuria and failure to concentrate urine

Summary

Conclusion

This is a unique case of LCH, wherein the patient presented with perianal pruritus ani that was diagnosed with LCH based on benign histological findings and the overall clinical course. Stable perianal LCH lesion with benign clinical features in a 50-year-old male despite lack of additional medical and surgical treatment has not been described in the literature so far. This case provides information about the natural progression and variability of clinical course and outcome in patients with perianal LCH, and the review highlights patients’ age distribution, length of symptoms before diagnosis, modes of treatments, and respective outcomes in patients with perianal LCH. –, data not reported; Intervala, interval time between LCH lesions pathological diagnosis and systematic manifestation; APR, abdominal perineal resection; DI, diabetes insipidus; MTX, Methotrexate; NSGY, Neurosurgery; CT, Computed Tomography

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