Mucopolysaccharidosis Type IVA and Severe Hidradenitis Suppurativa: A Case Series
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00216208:11110/25:10498718
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Mucopolysaccharidosis Type IVA and Severe Hidradenitis Suppurativa: A Case Series
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
30216 - Dermatology and venereal diseases
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
JAAD Case Reports
ISSN
2352-5126
e-ISSN
2352-5126
Volume of the periodical
62
Issue of the periodical within the volume
August
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
5
Pages from-to
146-150
UT code for WoS article
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EID of the result in the Scopus database
2-s2.0-105011741645