α1-Antitrypsin deficiency associated with panniculitis

Hendrick, Sophia J.; Silverman, Alan K.; Solomon, Alvin R.; Headington, John T.

doi:10.1016/s0190-9622(88)70091-2

Cited by 62 publications

(33 citation statements)

References 22 publications

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“…α 1 ‐AT is coded by a gene situated in the 14q 31–32.3 chromosome, where two alleles localized at one locus express the different clinical variations: homozygous MM for normal enzyme levels; heterozygous MZ or MS for partial deficiency; and homozygous ZZ for severe deficiency, associated mainly with emphysema and liver cirrhosis (Table 1), 15 but other organ systems may also be affected, resulting in different clinical diseases: hepatitis, hemorrhagic diathesis, and panniculitis 5 . A mutation of the amino acid lysine by glutamate in position 342 leads to a decreased secretion of the enzyme, with an abnormal storage of the protein in the endoplasmic reticulum 18 …”

Section: Discussionmentioning

confidence: 99%

“…Histopathologic features include a neutrophilic infiltrate with extensive liquefactive necrosis of the dermis, which also affects the fibrous subcutaneous septa 5 . It results in isolated lobules of subcutis, showing areas of normal fat surrounded by areas of intense necrosis containing neutrophils, histiocytes, and destruction of elastic tissue 21 .…”

Section: Discussionmentioning

confidence: 99%

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Alpha‐1‐antitrypsin deficiency associated with panniculitis treated with plasma exchange therapy

et al. 2004

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Alpha‐1‐antitrypsin deficiency associated with panniculitis treated with plasma exchange therapy

et al. 2004

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“…In order to avoid confusion, the term 'Weber-Christian disease' was gradually replaced by more specific terms indicative of the respective underlying cause. 52 It is now agreed that a deep incisional skin biopsy, to include an adequate sample of subcutaneous tissue, is needed to make a firm diagnosis of panniculitis. When interpreted by experienced pathologists, with the aid of the corresponding clinical and laboratory data, this approach usually informs accurate histological classification and aetiology.…”

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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“…13 A characteristic finding is the presence of extensive collagenolysis and elastolysis, resulting in ''floating fat'' separated from the surrounding reticular dermis and the pannicular septa. 14, 15 Another diagnostic clue is the splaying of neutrophils between collagen bundles of the reticular dermis, which is believed to represent the earliest change in this condition. 16 …”

Section: Pancreatic Panniculitismentioning

confidence: 99%

Neutrophilic Panniculitis: Algorithmic Approach to a Heterogeneous Group of Disorders

Chan

2014

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Neutrophilic panniculitis encompasses an etiologically and morphologically heterogeneous group of disorders. Correct histopathologic diagnosis is important in identifying certain systemic diseases and guiding appropriate treatment. Objective.—To review the clinical and histopathologic features of different types of neutrophilic panniculitis, and to provide a diagnostic algorithm for these disorders. Data Sources.—A review of the literature with emphasis on the distinguishing features of different entities was performed. Conclusions.—Evaluation for neutrophilic panniculitis entails paying close attention to the pattern of inflammation, the type of fat necrosis present, any evidence of vascular damage, and other relevant histopathologic features. An algorithmic approach integrating all histopathologic, clinical, and laboratory findings is required for correct diagnosis.

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α1-Antitrypsin deficiency associated with panniculitis

Cited by 62 publications

References 22 publications

Alpha‐1‐antitrypsin deficiency associated with panniculitis treated with plasma exchange therapy

Alpha‐1‐antitrypsin deficiency associated with panniculitis treated with plasma exchange therapy

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

Neutrophilic Panniculitis: Algorithmic Approach to a Heterogeneous Group of Disorders

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