Coexistence of the lingual involvement of glycogen storage disease type III with lichenoid infiltration
Öz
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.
Anahtar Kelimeler
lichenoid inflammation glycogen storage disease Cori-Forbes disease
Kaynakça
- Sun B, Brooks ED, Koeberl DD. Preclinical development of new therapy for glycogen storage diseases. Curr Gene Ther 2015;15:338-47.
- Kishnani PS, Austin SL, Arn P, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010;12:446-63.
- Thi Do T, Phoomak C, Champattanachai V, Silbsirivanit A, Chaiyarit P. New evidence of connections between increased O-GlcNAcylation and inflammasome in the oral mucosa of patients with oral lichen planus. Clin Exp Immunol 2018;192:129-37.
- Horvath JJ, Austin SL, Jones HN, et al. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Mol Genet Metab 2012;107:496-500.
- Seyhan M, Ozcan H, Sahin I, Bayram N, Karincaoglu Y. High prevalence of glucose metabolism disturbance in patients with lichen planus. Diabetes Res Clin Pract 2007;77:198-202.
- Romero MA, Seoane J, Varela-Centelles P, Diz-Dios P, Garcia-Pola MJ. Prevalence of diabetes mellitus amongst oral lichen planus patients. Clinical and pathological characteristics. Med Oral 2002;7:121-9.
- Yamashita T, Ishibashi Y, Nagaoka I, et al. Studies of glycogen induced inflammation of mice. Dynamics of inflammatory responses and influence of antiinflammatory drugs and protease inhibitors. Inflammation 1982;6:87-101.
- Ceperuelo-Mallafre V, Ejarque M, Serena C, et al. Adipose tissue glycogen accumulation is associated with obesity-linked inflammation in humans. Mol Metab 2015;5:5-18.
- Zhang N, Zhang J, Tan YQ, et al. Activated Akt/mTOR-autophagy in local T cells of oral lichen planus. Int Immunopharmacol 2017;48:84-90.
- van der Meij EH, van der Waal I. Lack of clinicopathologic correlation in the diagnosis of oral lichen planus based on the presently available diagnostic criteria and suggestions for modifications. J Oral Pathol Med 2003;32:507-12.
- Ding J, Huang Y, Yang H, et al. Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II. Zhonghua Er Ke Za Zhi 2015;53:436-41.
- Anitua E, Pinas L, Alkhraisat MH. Histopathological features of oral lichen planus and its response to corticosteroid therapy: A retrospective study. Medicine (Baltimore) 2019;98:e18321.
Öz
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.
Anahtar Kelimeler
likenoid inflamasyon glikojen depo hastalığı Cori-Forbes hastalığı
Kaynakça
- Sun B, Brooks ED, Koeberl DD. Preclinical development of new therapy for glycogen storage diseases. Curr Gene Ther 2015;15:338-47.
- Kishnani PS, Austin SL, Arn P, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010;12:446-63.
- Thi Do T, Phoomak C, Champattanachai V, Silbsirivanit A, Chaiyarit P. New evidence of connections between increased O-GlcNAcylation and inflammasome in the oral mucosa of patients with oral lichen planus. Clin Exp Immunol 2018;192:129-37.
- Horvath JJ, Austin SL, Jones HN, et al. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Mol Genet Metab 2012;107:496-500.
- Seyhan M, Ozcan H, Sahin I, Bayram N, Karincaoglu Y. High prevalence of glucose metabolism disturbance in patients with lichen planus. Diabetes Res Clin Pract 2007;77:198-202.
- Romero MA, Seoane J, Varela-Centelles P, Diz-Dios P, Garcia-Pola MJ. Prevalence of diabetes mellitus amongst oral lichen planus patients. Clinical and pathological characteristics. Med Oral 2002;7:121-9.
- Yamashita T, Ishibashi Y, Nagaoka I, et al. Studies of glycogen induced inflammation of mice. Dynamics of inflammatory responses and influence of antiinflammatory drugs and protease inhibitors. Inflammation 1982;6:87-101.
- Ceperuelo-Mallafre V, Ejarque M, Serena C, et al. Adipose tissue glycogen accumulation is associated with obesity-linked inflammation in humans. Mol Metab 2015;5:5-18.
- Zhang N, Zhang J, Tan YQ, et al. Activated Akt/mTOR-autophagy in local T cells of oral lichen planus. Int Immunopharmacol 2017;48:84-90.
- van der Meij EH, van der Waal I. Lack of clinicopathologic correlation in the diagnosis of oral lichen planus based on the presently available diagnostic criteria and suggestions for modifications. J Oral Pathol Med 2003;32:507-12.
- Ding J, Huang Y, Yang H, et al. Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II. Zhonghua Er Ke Za Zhi 2015;53:436-41.
- Anitua E, Pinas L, Alkhraisat MH. Histopathological features of oral lichen planus and its response to corticosteroid therapy: A retrospective study. Medicine (Baltimore) 2019;98:e18321.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Klinik Tıp Bilimleri |
| Bölüm | Case Reports |
| Yazarlar | |
| Yayımlanma Tarihi | 30 Eylül 2020 |
| Yayımlandığı Sayı | Yıl 2020 Cilt: 3 Sayı: 3 |
