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Titolo:
Panniculitis revealing qualitative alpha 1 antitrypsine deficiency (MS variant)
Autore:
Loche, F; Tremeau-Martinage, C; Laplanche, G; Massip, P; Bazex, J;
Indirizzi:
Hop Purpan, Dept Dermatol, F-31059 Toulouse, France Hop Purpan Toulouse France F-31059 pt Dermatol, F-31059 Toulouse, France Hop Purpan, Dept Infect Dis, F-31059 Toulouse, France Hop Purpan Toulouse France F-31059 Infect Dis, F-31059 Toulouse, France
Titolo Testata:
EUROPEAN JOURNAL OF DERMATOLOGY
fascicolo: 7, volume: 9, anno: 1999,
pagine: 565 - 567
SICI:
1167-1122(199910/11)9:7<565:PRQA1A>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-1-ANTITRYPSIN DEFICIENCY; ALPHA(1)-ANTITRYPSIN DEFICIENCY; ALPHA1-ANTITRYPSIN DEFICIENCY; LIVER-DISEASE; INHIBITOR;
Keywords:
panniculitis; alpha 1 antitrypsine deficiency; MS variant;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Loche, F Hop Purpan, Dept Dermatol, Pl Docteur Baylac, F-31059 Toulouse, France Hop Purpan Pl Docteur Baylac Toulouse France F-31059 use, France
Citazione:
F. Loche et al., "Panniculitis revealing qualitative alpha 1 antitrypsine deficiency (MS variant)", EUR J DERM, 9(7), 1999, pp. 565-567

Abstract

A 16-year-old girl presented painful, red, nodular lesions on the abdomen. A cutaneous biopsy showed inflammatory cell infiltrate and fibrosis in thedermis and in the septa with isolated adipocyte lobules. alpha 1-antitrypsin level was found to be normal but M1S phenotype of alpha 1-antitrypsin was determined by isoelectric focusing in polyacrylamide gel, alpha 1-antitrypsin level was normal for her family but M2S phenotype was found in her father. Alpha 1-antitrypsin (alpha 1 AT) deficiency is a common hereditary disorder of Caucasians. The locus is pleiomorphic and 75 alleles have been identified. Numerous pathological mutations can be classified by the mechanisms which cause the deficiency. The major clinical importance of this deficiency is emphysema and liver disease. Panniculitis is rarely reported and seems to occur principally for the ZZ or MZ phenotype and for low levels of alpha 1 AT. MS phenotype has been more rarely reported and triggering agents such as trauma and infections must be present. However, normal levels of alpha 1 AT in the serum have previously been reported as in our case, and we suggest the study of alpha 1 AT phenotype even if the plasma level is normal.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 12:57:01