Systemic nodular panniculitis in a patient with alpha-1 antitrypsin deficiency (PiSS phenotype)

Pinto, Adriana; Maciel, Luiz; Carneiro, Fátima; Resende, Carlos Xavier; Chaves, F.J.; Freitas, A. Falcão de

doi:10.1111/j.1365-2230.1993.tb01000.x

Cited by 26 publications

(16 citation statements)

References 9 publications

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“…The panniculitis is characterized by painful, weepy cutaneous nodules that can sometimes necrose ( Figure 3). Panniculitis occurs at the site of trauma in one third of individuals and may accompany several phenotypes, including PI*ZZ (121), PI*SZ (122), PI*SS (123), and PI*MS (124). Diagnosis often requires deep excisional biopsy, which shows areas of fat necrosis interspersed among normal-appearing areas.…”

Section: Clinical Manifestations and Diagnosismentioning

confidence: 99%

A Review of α₁-Antitrypsin Deficiency

Stoller

Aboussouan

2012

Am J Respir Crit Care Med

389

330

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α(1)-Antitrypsin (AAT) deficiency is an underrecognized genetic condition that affects approximately 1 in 2,000 to 1 in 5,000 individuals and predisposes to liver disease and early-onset emphysema. AAT is mainly produced in the liver and functions to protect the lung against proteolytic damage (e.g., from neutrophil elastase). Among the approximately 120 variant alleles described to date, the Z allele is most commonly responsible for severe deficiency and disease. Z-type AAT molecules polymerize within the hepatocyte, precluding secretion into the blood and causing low serum AAT levels (∼ 3-7 μM with normal serum levels of 20-53 μM). A serum AAT level of 11 μM represents the protective threshold value below which the risk of emphysema is believed to increase. In addition to the usual treatments for emphysema, infusion of purified AAT from pooled human plasma-so-called "augmentation therapy"-represents a specific therapy for AAT deficiency and raises serum levels above the protective threshold. Although definitive evidence from randomized controlled trials of augmentation therapy is lacking and therapy is expensive, the available evidence suggests that this approach is safe and can slow the decline of lung function and emphysema progression. Promising novel therapies are under active investigation.

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Section: Clinical Manifestations and Diagnosismentioning

confidence: 99%

A Review of α₁-Antitrypsin Deficiency

Stoller

Aboussouan

2012

Am J Respir Crit Care Med

389

330

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“…60-65 A surprising observation was that neutrophilic panniculitis was also found at times in subjects with the MS, SS, MZ and SZ genotypes, whose skin biopsies were indistinguishable from those of ZZ homozygotes, although triggering agents such as trauma or infections were usually present in these non-ZZ cases. [66][67][68][69][70][71] In 1996 and 1997, Furey et al and O'Riordan et al (both from Chicago, IL, U.S.A.) respectively treated two separate Pi*ZZ cases with severe panniculitis with Prolastin, achieving successful resolution in both cases. 72,73 In addition, O'Riordan also reported a Pi*ZZ patient with liver cirrhosis and panniculitis who was well controlled with liver transplantation from an MM donor, after raising the low AAT pretransplantation serum levels to normal limits.…”

Section: Panniculitismentioning

confidence: 99%

Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: an update

et al. 2016

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Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency (AATD) is a very rare disease. Its estimated prevalence is 1 in 1000 subjects with severe AATD (usually white individuals with a Pi*ZZ genotype). It is manifested clinically by painful recurrent ulcerating subcutaneous nodules, and characterized histologically by dense infiltrates of neutrophils in the deep dermis and connective-tissue septae, with secondary lobular panniculitis. It may be the only clinical manifestation of AATD, although it can also occur together with the classical pulmonary or hepatic manifestations of the disease. AATD-associated panniculitis is not only very rare but may also be significantly underdiagnosed. The physician managing a case of panniculitis with a clinical presentation suggestive of AATD and a compatible skin biopsy should measure serum AAT concentration and, if low, determine the AAT phenotype by isoelectric focusing. If uncertainty remains, the SERPINA1 gene should be sequenced to identify the genotype. If AATD is diagnosed, AATD testing of first-degree family members should be performed in order to take appropriate preventive and therapeutic measures, including genetic counselling, education on inheritance, risk arising from tobacco smoke, occupational exposure to pollutants and hepatotoxic substances, and the provision of information on clinical management. Cases of panniculitis in which conventional therapy with dapsone has failed may be managed with intravenous augmentative therapy using human AAT. The current manuscript addresses the fundamental concepts of the pathogenesis of AATD-associated panniculitis and describes the clinical presentation and management of cases in order to reduce underdiagnosis and improve outcomes.

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“…heterozygote Enzymmangel als noduläre Pannikulitis mit Liquefaktion, wobei die heterozygoten Genotypen erfahrungsgemäß eine mildere Verlaufsform zeigen. Am häufigsten wird die Assoziation mit den Phänotypen ZZ oder MZ beobachtet, seltener mit SS [26]. Die stark schmerzhaften subkutanen Knoten erweichen aufgrund einer progressiven Verflüssigungsnekrose, brechen sinusartig zur Oberfläche durch und sondern dann ölig-nekrotisches Gewebe in einer serös-gelblichen Flüs-sigkeit ab.…”

Section: Therapie Und Verlaufunclassified