Cutaneous manifestation of Alpha-1 antitrypsin deficiency: A case of panniculitis

Lopes, Sofia; Damas, Carla; Azevedo, Filomena; Mota, Alberto

doi:10.4103/ijd.ijd_421_17

Cited by 5 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Painful cutaneous panniculitis is diagnosed by histology of the biopsied specimen, which shows necrosis, acanthosis, and neutrophil accumulation. According to Lopes et al, there is no standard treatment protocol for panniculitis, but we can try steroids, colchicine, and dapsone [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study

Kolagatla,

Gullapalli,

Vangara

et al. 2024

Cureus

View full text Add to dashboard Cite

Alpha-1 antitrypsin (AAT) deficiency, an autosomal co-dominant inherited condition, significantly impacts lung and liver functions, with mutations in the SERPINA1 gene, notably the Z allele, playing a pivotal role in disease susceptibility. This retrospective descriptive study from a rural Eastern Kentucky pulmonary clinic aimed to characterize patients with AAT deficiency, focusing on demographic, clinical, and laboratory parameters extracted from electronic health records (EHR) of Appalachian Regional Healthcare (ARH). Among 100 patient encounters, 56 were analyzed, revealing notable sex-based differences in smoking rates and co-existing conditions, with males showing higher rates of black lung and chronic obstructive pulmonary disease. In comparison, females exhibited higher rates of asthma, COVID-19, pneumothorax, and obstructive sleep apnea. The study emphasizes the importance of understanding genotype-phenotype correlations and demographic factors in assessing AAT deficiency, advocating for further research to refine management strategies and elucidate causal relationships.

show abstract

Section: Discussionmentioning

confidence: 99%

Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study

Kolagatla,

Gullapalli,

Vangara

et al. 2024

Cureus

View full text Add to dashboard Cite

show abstract

“…Data regarding symptom prevalence are scarce, with just over 50 references to AATD-associated panniculitis [ 9 ]. It presents as recurrent erythematous plaques and subcutaneous nodules on the trunk, buttocks, and extremities, eventually ulcerating and resulting in an oily discharge, healing with atrophic scarring [ 11 ]. Around one-third of lesions are preceded by trauma, excessive activity, or surgery [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Acute Disseminated Panniculitis Associated with Alpha-1 Antitrypsin Deficiency

Murinello¹,

Damásio²,

Guedes³

et al. 2022

Case Rep Dermatol

View full text Add to dashboard Cite

Alpha-1 antitrypsin deficiency, although one of the most common genetic diseases, is a very rare and often undiagnosed cause of panniculitis. The authors present a case characterized by an acute involvement of several areas in the thorax, abdomen, and limbs, occurring after repetitive trauma of the perineal area caused by a long period of cycling. After performing the differential diagnosis and establishing etiology, the patient was started on augmentation therapy with plasma-derived synthetic human alpha-1 proteinase inhibitor and the disease has been under control since then. We recommend lifelong treatment with this medication. At the end of a 10-year follow-up, there has been no evidence of pulmonary emphysema or liver disease. The authors perform a concise review of the genetic and pathogenic mechanisms behind this disease, with a special focus on panniculitis and its treatment.

show abstract

“…These results indicate the importance of AAT as a regulator of obesity-related inflammation. Severe cases of AATD are also associated with skin panniculitis whose hallmark is inflammation of the subcutis [63]. Symptoms of panniculitis include red nodules, painful lesions, and discharge.…”

Section: Alpha-1 Antitrypsin Deficiencymentioning

confidence: 99%

COVID-19 Pathology Sheds New Light on Balance between Neutrophil Proteases and Their Inhibitors

Radic¹,

Silva²

2022

Preprint

View full text Add to dashboard Cite

Excessive neutrophil influx and activation in lungs during infections, such as manifest during the ongoing SARS CoV-2 pandemic, have brought neutrophil extracellular traps (NETs) and the con-comitant release of granule contents that damage surrounding tissues into sharp focus. Neutro-phil proteases, which are known to participate in NET release, also enable the binding of the viral spike protein to cellular receptors and assist in the spread of infection. Blood and tissue fluids normally also contain liver-derived protease inhibitors that balance the activity of proteases. In-terestingly, neutrophils themselves also express the protease inhibitor alpha-1-antitrypsin (AAT), the product of the SERPINA-1 gene, and store it in neutrophil cytoplasmic granules. The absence of AAT or mutations in the SERPINA-1 gene promote lung remodeling and fibrosis in diseases such as chronic obstructive pulmonary disease (COPD), acute respiratory distress syndrome (ARDS) and increase the risk of allergic responses. Recent observations point to the fact that re-duced activity of AAT presents a major susceptibility factor for severe COVID-19. Here, we focus attention on the mechanism of neutrophil elastase (NE) in NET release and its inhibition by AAT as an additional factor that may determine the severity of COVID-19

show abstract

Cutaneous manifestation of Alpha-1 antitrypsin deficiency: A case of panniculitis

Cited by 5 publications

References 5 publications

Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study

Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study

Acute Disseminated Panniculitis Associated with Alpha-1 Antitrypsin Deficiency

COVID-19 Pathology Sheds New Light on Balance between Neutrophil Proteases and Their Inhibitors

Contact Info

Product

Resources

About