Mucopolysaccharidosis Type IVA and Severe Hidradenitis Suppurativa: A Case Series

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F25%3A10498718" target="_blank" >RIV/00064165:_____/25:10498718 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/25:10498718

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Te07aR2neI" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Te07aR2neI</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jdcr.2025.04.043" target="_blank" >10.1016/j.jdcr.2025.04.043</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Mucopolysaccharidosis Type IVA and Severe Hidradenitis Suppurativa: A Case Series

Popis výsledku v původním jazyce

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome type A (OMIM #253000) is rare autosomal recessive lysosomal storage disorder resulting from mutations in the GALNS gene, leading to a deficiency in the enzyme of N-acetylglucosamine-6-sulphate sulfatase (GALNS). Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by painful recurrent abscesses, sinus tracts, and scarring, typically occurring in the intertriginous areas, such as the axillae, groin, and buttocks. Pathophysiology involves follicular occlusion and a dysregulated immune response, particularly the involvement of pro-inflammatory cytokines such as IL-17, TNF-α, and IL-1β. Although the precise genetic and environmental triggers of HS remain unclear, mutations in genes associated with inflammation, such as the γ-secretase complex (PSENEN, PSEN1, NCSTN), have been implicated. HS in the general population and is often associated with comorbidities like obesity, metabolic syndrome, type II diabetes, depression and inflammatory bowel disease. This case series reports three patients with MPS IVA who developed severe HS, a condition not previously documented in lysozomal storage diseases. We aim to explore the relationship between these conditions and assess the effectiveness of biological therapies in managing severe HS in this patiens population.

Název v anglickém jazyce

Mucopolysaccharidosis Type IVA and Severe Hidradenitis Suppurativa: A Case Series

Popis výsledku anglicky

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome type A (OMIM #253000) is rare autosomal recessive lysosomal storage disorder resulting from mutations in the GALNS gene, leading to a deficiency in the enzyme of N-acetylglucosamine-6-sulphate sulfatase (GALNS). Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by painful recurrent abscesses, sinus tracts, and scarring, typically occurring in the intertriginous areas, such as the axillae, groin, and buttocks. Pathophysiology involves follicular occlusion and a dysregulated immune response, particularly the involvement of pro-inflammatory cytokines such as IL-17, TNF-α, and IL-1β. Although the precise genetic and environmental triggers of HS remain unclear, mutations in genes associated with inflammation, such as the γ-secretase complex (PSENEN, PSEN1, NCSTN), have been implicated. HS in the general population and is often associated with comorbidities like obesity, metabolic syndrome, type II diabetes, depression and inflammatory bowel disease. This case series reports three patients with MPS IVA who developed severe HS, a condition not previously documented in lysozomal storage diseases. We aim to explore the relationship between these conditions and assess the effectiveness of biological therapies in managing severe HS in this patiens population.

Druh

J_SC - Článek v periodiku v databázi SCOPUS

CEP obor

—

OECD FORD obor

30216 - Dermatology and venereal diseases

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JAAD Case Reports

ISSN

2352-5126

e-ISSN

2352-5126

Svazek periodika

62

Číslo periodika v rámci svazku

August

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

5

Strana od-do

146-150

Kód UT WoS článku

—

EID výsledku v databázi Scopus

2-s2.0-105011741645