Publications by authors named "S Aquilina"

38 Publications

The International EAACI/GA²LEN/EuroGuiDerm/APAAACI Guideline for the Definition, Classification, Diagnosis and Management of Urticaria.

Allergy 2021 Sep 18. Epub 2021 Sep 18.

Centre Hospitalier Université Laval/Centre Hospitalier Universitaire de Québec, Service d'allergie, Québec, QC, Canada.

This update and revision of the international guideline for urticaria was developed following the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is a joint initiative of the Dermatology Section of the European Academy of Allergology and Clinical Immunology (EAACI), the Global Allergy and Asthma European Network (GA²LEN) and its Urticaria and Angioedema Centers of Reference and Excellence (UCAREs and ACAREs), the European Dermatology Forum (EDF; EuroGuiDerm), and the Asia Pacific Association of Allergy, Asthma and Clinical Immunology with the participation of 64 delegates of 50 national and international societies and from 31 countries. The consensus conference was held on 3 December 2020. This guideline was acknowledged and accepted by the European Union of Medical Specialists (UEMS). Urticaria is a frequent, mast-cell-driven disease that presents with wheals, angioedema, or both. The lifetime prevalence for acute urticaria is approximately 20%. Chronic urticaria, i.e. chronic spontaneous urticaria and chronic inducible urticaria, is disabling, impairs quality of life, and affects performance at work and school. This updated version of the international guideline for urticaria covers the definition and classification of urticaria and outlines expert-guided and evidence-based diagnostic and therapeutic approaches for the different subtypes of urticaria.
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http://dx.doi.org/10.1111/all.15090DOI Listing
September 2021

Cutaneous Melanoma More Likely to Be Invasive in Fairer Skin Phototypes: A Retrospective Observational Study.

Skinmed 2021 1;19(4):280-283. Epub 2021 Aug 1.

Department of Dermatology, Sir Paul Boffa Hospital, Floriana, Malta.

Fitzpatrick skin phototype is one of the factors determining melanoma development, with fairer skin phototypes I and II known to be associated with a higher risk. This study aimed to identify any associations between skin phototype and the histologic subtype, Breslow's thickness, and the site of melanoma. Patients diagnosed with melanoma for over an 18-month period were included. Data were gathered from the Malta National Cancer Registry. There were 167 registered cutaneous melanoma patients, of which 135 were included in the study. Melanomas in patients with skin phototypes I and II were more likely to be invasive than when compared to patients with skin phototypes III and IV ( = 0.00027). There was also an association between skin phototype and histologic type of melanoma ( = 0.005), with melanoma being the most common subtype in patients with skin type III. This study confirms that fairer skin phototypes have an increased risk of melanoma. It also shows that in our population, melanoma in skin phototypes I and II is more likely to be invasive rather than compared to melanoma in darker skin phototypes. Further studies are required to confirm these findings and identify possible reasons.
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http://dx.doi.org/DOI Listing
August 2021

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Mol Genet Genomic Med 2021 03 3;9(3):e1611. Epub 2021 Feb 3.

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.

Background: Netherton syndrome (NS) is a genodermatosis caused by loss-of-function mutations in SPINK5, resulting in aberrant LEKTI expression.

Method: Next-generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies were performed by immunofluorescence microscopy of a lesional skin biopsy using anti-LEKTI antibodies.

Results: We describe a novel SPINK5 likely pathogenic donor splice site variant (NM_001127698.1:c.2015+5G>A) in a patient with NS and confirm its functional significance by demonstrating complete loss of LEKTI expression in lesional skin by immunofluorescence analysis.

Conclusion: The 2015+5G>A is a novel, likely pathogenic variant in NS. Herein we review and assimilate documented SPINK5 pathogenic variants and discuss possible genotype-phenotype associations in NS.
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http://dx.doi.org/10.1002/mgg3.1611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104165PMC
March 2021

Papillomatosis cutis lymphostatica and 'Ski-Jump' nails.

Pediatr Dermatol 2021 Jan 18;38(1):332-333. Epub 2020 Nov 18.

Department of Dermatology, Mater Dei Hospital, Msida, Malta.

Papillomatosis cutis lymphostatica is an uncommon condition usually associated with lymphedema. "Ski-jump" nails are upward sloping concave nails that can be an important diagnostic sign which may be overlooked in the setting of lymphedema. A diagnosis of papillomatosis cutis lymphostatica should be suspected in patients presenting with persistent, bland papilliform plaques, supported by the additional presence of "ski-jump" nails.
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http://dx.doi.org/10.1111/pde.14457DOI Listing
January 2021

The Antibiotic Susceptibility Profile of Cutibacterium Acnes in Maltese Patients with Acne.

J Clin Aesthet Dermatol 2020 Jun 1;13(6):11-16. Epub 2020 Jun 1.

Drs. Mercieca, Mangion, Micallef, Corso, Scerri, Boffa, Clark, and Aquilina are with the Department of Dermatology at Sir Paul Boffa Hospital in Floriana, Malta.

Antibiotics have been widely used for the management of acne vulgaris, which has led to increased resistance of (). We sought to determine the susceptibility profile of isolated from patients with acne, to different prescribed antibiotics and compare our findings with global data. The relationship between antibiotic resistance and sex, age, acne severity, presence of any affected siblings, disease duration, and previous antimicrobial treatment was also investigated. Samples were collected from randomly selected pustular acne lesions of patients attending the Dermatology Outpatients Clinic at Sir Paul Boffa Hospital in Floriana, Malta. Samples were inoculated and incubated in anaerobic conditions until 100 cultured samples were obtained. Antibiotic susceptibility testing was then performed using azithromycin, clindamycin, doxycycline, minocycline, tetracycline, and trimethoprim/sulfamethoxazole using the agar dilution method. The highest resistance was observed to azithromycin (18%) followed by clindamycin (16%). Resistance to doxycycline and tetracycline was only found in two percent of the isolates and there was no resistance to trimethoprim/sulfamethoxazole and minocycline. Resistance to azithromycin and clindamycin was associated with acne severity (=0.01 and =0.03). Resistance to clindamycin was also statistically significantly higher in patients with a history of antibiotic therapy or concurrent antibiotic therapy during the study (=0.04). To our knowledge, this is the first study documenting the susceptibility of isolates to different antibiotics in Malta. Future research is needed to determine the clinical significance of antibiotic resistance of .
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442308PMC
June 2020
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