Coexistence of the lingual involvement of glycogen storage disease type III with lichenoid infiltration

Year 2020, , 75 - 79, 30.09.2020

Tugba Kevser Uzuncakmak , Zeynep Arslan Ebru Zemheri Necmettin Akdeniz , Ayse Serap Karadag

https://doi.org/10.33204/mucosa.727611

Cited By: 1

Abstract

Glycogen storage disease (GSD) type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency of glycogen debranching enzymes which is affecting 1/100000 every live birth. Clinical presentation is classified into four groups according to the muscular and liver involvement. GSD IIIa, the most common form of GSD III, primarily affects the liver, cardiac muscle, and skeletal muscle. Treatment mainly involves a high-protein diet, to facilitate gluconeogenesis. A 28-year-old male presented to our outpatient clinic with a 2-month history of white asymptomatic lesions on his tongue. He was diagnosed with GSD type 3 when he was six months old, and he has no other systemic disease, drug use or smoking history. A punch biopsy was performed, in superficial dermis band type lymphohistiocytic lichenoid infiltration was detected, also vacuolization of muscle cells and positive PAS staining were seen histologically. Topical high potent corticosteroids and dietary recommendations were offered to him. We want to present this case because of the rarity of lingual muscle involvement in glycogen storage disorders.

Keywords

lichenoid inflammation, glycogen storage disease, Cori-Forbes disease

Glikojen depo hastalığı Tip 3’ün dil tutulumu ile likenoid infiltrasyon birlikteliği

Abstract

Glikojen depo hastalığı (GDH) Tip 3, yaklaşık her 100000 canlı doğumda 1 sıklıkta görülen, glikojenin yıkımını
sağlayan enzimlerde defektle karakterize otozomal resesif kalıtılan bir metabolizma hastalığıdır. Klinik bulgularına
göre dört ayrı gruba ayrılan bu hastalıkta kas ve karaciğer tutulumu izlenebilmektedir. GDH tip 3a bu grupta
en sık görülen alt tiptir ve öncelikle karaciğer, kalp kası ve iskelet kasını etkilemektedir. Tedavide proteinden
zengin diyet ile glukoneogenez baskılanması amaçlanmaktadır. Yirmi sekiz yaşında erkek hasta kliniğimize dil
üzerinde 2 aydır var olan, herhangi bir yakınmaya neden olmayan beyaz lekeler şikayetiyle başvurdu. Özgeçmişinde 6 aylıkken glikojen depo hastalığı tanısı aldığı ve diyetle takipte olduğu, ek hastalığının, ilaç kullanımının veya sigara kullanımının olmadığı öğrenildi. Dil üzerinden alınan biyopsinin histopatolojik incelemesinde yüzeyel dermiste bant tarzı lenfositik infiltrasyon, kaslarda vaküolizasyon ve PAS boya ile pozitiflik izlendi. Likenoid infiltrasyona yönelik yüksek güçte yerel kortikosteroid krem ve diyet önerildi. Bu olguyu
glikojen depo hastalarında dil kası tutulumunun nadir olması ve karbonhidrat metabolizmasındaki değişikliklerin likenoid reaksiyonlar üzerine olası tetikleyici rolünü vurgulamak amacıyla sunmak istiyoruz.

Keywords

likenoid inflamasyon, glikojen depo hastalığı, Cori-Forbes hastalığı

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