Neutrophilic panniculitis associated with alpha‐1‐antitrypsin deficiency: an update
Identifieur interne : 000E01 ( Main/Exploration ); précédent : 000E00; suivant : 000E02Neutrophilic panniculitis associated with alpha‐1‐antitrypsin deficiency: an update
Auteurs : I. Blanco [Espagne] ; D. Lipsker [France] ; B. Lara [Royaume-Uni] ; S. Janciauskiene [Allemagne]Source :
- British Journal of Dermatology [ 0007-0963 ] ; 2016-04.
Abstract
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.
What's already known about this topic? Panniculitis associated with alpha‐1‐antitrypsin (AAT) deficiency is a rare disease generally associated with Pi*ZZ genotypes. Important clinical, epidemiological, pathogenic and therapeutic aspects remain as yet unknown. What does this study add? To make a firm diagnosis, a deep‐skin biopsy complemented with blood AAT measurement and Pi‐AAT phenotype–genotype characterization is required. Although dapsone is currently the drug of choice for initiating an empirical treatment, studies to establish a pharmacological regimen based on scientific evidence are still needed. Linked Comment: Cardoso. Br J Dermatol 2016; 174:711–712.
Url:
DOI: 10.1111/bjd.14309
Affiliations:
- Allemagne, Espagne, France, Royaume-Uni
- Alsace (région administrative), Basse-Saxe, Catalogne, Grand Est
- Barcelone, Hanovre, Strasbourg
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Blanco</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Board of Directors of the Alpha1‐Antitrypsin Deficiency Spanish Registry, Lung Foundation Breathe, Spanish Society of Pneumology (SEPAR), Provenza, 108 Bajo, 08029, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation></affiliation><affiliation></affiliation></author><author><name sortKey="Lipsker, D" sort="Lipsker, D" uniqKey="Lipsker D" first="D." last="Lipsker">D. 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Janciauskiene</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Respiratory Medicine, Hannover Medical School, Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Member of the German Center for Lung Research (DZL), 30626, Hanover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">British Journal of Dermatology</title><title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title><idno type="ISSN">0007-0963</idno><idno type="eISSN">1365-2133</idno><imprint><biblScope unit="vol">174</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="753">753</biblScope><biblScope unit="page" to="762">762</biblScope><biblScope unit="page-count">10</biblScope><date type="published" when="2016-04">2016-04</date></imprint><idno type="ISSN">0007-0963</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0007-0963</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">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.</div><div type="abstract">What's already known about this topic? Panniculitis associated with alpha‐1‐antitrypsin (AAT) deficiency is a rare disease generally associated with Pi*ZZ genotypes. Important clinical, epidemiological, pathogenic and therapeutic aspects remain as yet unknown. What does this study add? To make a firm diagnosis, a deep‐skin biopsy complemented with blood AAT measurement and Pi‐AAT phenotype–genotype characterization is required. Although dapsone is currently the drug of choice for initiating an empirical treatment, studies to establish a pharmacological regimen based on scientific evidence are still needed. Linked Comment: Cardoso. Br J Dermatol 2016; 174:711–712.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Espagne</li><li>France</li><li>Royaume-Uni</li></country><region><li>Alsace (région administrative)</li><li>Basse-Saxe</li><li>Catalogne</li><li>Grand Est</li></region><settlement><li>Barcelone</li><li>Hanovre</li><li>Strasbourg</li></settlement></list><tree><country name="Espagne"><region name="Catalogne"><name sortKey="Blanco, I" sort="Blanco, I" uniqKey="Blanco I" first="I." last="Blanco">I. Blanco</name></region></country><country name="France"><region name="Grand Est"><name sortKey="Lipsker, D" sort="Lipsker, D" uniqKey="Lipsker D" first="D." last="Lipsker">D. Lipsker</name></region></country><country name="Royaume-Uni"><noRegion><name sortKey="Lara, B" sort="Lara, B" uniqKey="Lara B" first="B." last="Lara">B. Lara</name></noRegion></country><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Janciauskiene, S" sort="Janciauskiene, S" uniqKey="Janciauskiene S" first="S." last="Janciauskiene">S. Janciauskiene</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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