Perianal Langerhans cell histiocytosis

Year 2023, , 168 - 173, 22.12.2023

Vedat Göral Ece Altun Ferhat Özden Ömür Gökmen Sevindik Kerem Mert Göral

https://doi.org/10.17941/agd.1408035

Abstract

Langerhans cell histiocytosis 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. Langerhans cell histiocytosis is a disorder of antigen presenting cells. It is the most common disease of the monocytic phagocytic system. Sometimes mutations (changes) develop in genes that control how dendritic cells function. These include mutations of the BRAF, MAP2K1, RAS, and ARAF genes. In the 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. Here, we will present a case diagnosed with Langerhans cell histiocytosis after many years of treatment.

Keywords

Perianal lesion, Langerhans cell histiocytosis, Diabetes insipidus, pituitary insufficiency

Perianal Langerhans hücreli histiyositoz

Abstract

Langerhans hücreli histiyositoz, nadir görülen ve patogenezi henüz tam olarak bilinmeyen bir hastalıktır. Etiyolojisinde çevresel etmenler, enfeksiyonlar, immünolojik ve genetik etkenlerin rol oynadığı düşünülmektedir. Langerhans hücreli histiyositoz, antijen sunan hücrelerin bir bozukluğudur. Monositer fagositer sistemin en sık görülen hastalığıdır. Bazen dendritik hücrelerin nasıl çalıştığını kontrol eden genlerde mutasyonlar (değişiklikler) gelişir. Bunlar BRAF, MAP2K1, RAS ve ARAF genlerinin mutasyonlarını içerir. Histopatolojisinde; Langerhans hücreleri kadar T-hücreleri, eozinofil, makrofajlar gibi inflamasyon hücreleri yanında, çok çekirdekli dev hücreler dikkati çeker. Hastalığın klinik olarak geniş bir yelpazesi vardır. Tutulan doku ve organlara göre klinik seyir çeşitlilik gösterir. Klinikte bazen kendiliğinden iyileşme olabildiği gibi, hastalık ilerleyici ve ölümcül de olabilir. Burada uzun yıllar tedavi sonunda Langerhans hücreli histiyositoz tanısı alan bir vakayı sunacağız.

Keywords

Perianal lezyon, Langerhans hücreli histiyositoz, Diabetes insipidus, hipofizer yetmezlik

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