Langerhans Cell Histiocytosis with Perianal Involvement

Background: Langerhans cell histiocytosis (LCH) is a rare disease with an unknown pathogenesis. It is thought that environmental factors, infections, immunological and genetic factors play a role in its etiology. LCH is a disorder of antigen presenting cells. It is the most common disease of the monocytic phagocytic system. In his histopathology; Inflammatory cells such as T-cells, eosinophils, macrophages as well as Langerhans cells, multinucleated giant cells attract attention. The disease has a wide clinical spectrum. The clinical course varies according to the tissues and organs involved. Sometimes spontaneous recovery may occur in the clinic, as well as the disease may be progressive and fatal. Case Report: A 28-year-old male patient from Kazakhstan applied to us with the complaints of diarrhea and perianal wound. His complaints have been ongoing since 2021. In 2018, she suddenly started to complain of being very thirsty and drinking water. Diabetes insipidus was diagnosed in the examinations, and desmopressin 120 mg tablet was used as drug treatment. His treatment was discontinued in 2019 and the patient’s complaints regressed. In March 2021, perianal lesions began to form. For the perianal lesions, it was suggested that he might have Crohn’s disease, but he did not receive medication. Our patient also had tooth loss, muscle and bone pain, and infertility. Since her complaint continued, she applied to us from Kazakhstan for examination and treatment. In physical examnination, the patient had a decrease in hair growth, severe erosion, ulceration and discharge on the skin in the perianal region (Figure 1), redness on the scalp and a lesion that bled from place to place (dermatitis?). Crushed lesion (involvement) in the right outer ear, missing teeth in the mouth, shed, distorted dysmorphic appearance (Figure 2), 2 cm opening in the anterior part of the neck (due to involvement) (Figure 3), testicles were bilaterally atrophic. CNS was normal, CVS was normal, there was no comfortable defense rebound in the abdomen, there was no pretibial edema. A biopsy was performed from the patient’s ulcerated lesion in the perianal region. In the biopsy, Langerhans cell histiocytosis was diagnosed. The patient, whose treatment was arranged, was discharged to continue his treatment in his country. Conclusions: Perianal LCH is a rare disease. In young patients with diabetes insipidus, Langerhans cell histiocytosis should be considered in the differential diagnosis if there is perianal ulceration that does not respond to local treatments.