PMID- 26595240
OWN - NLM
STAT- MEDLINE
DCOM- 20170306
LR  - 20171006
IS  - 1365-2133 (Electronic)
IS  - 0007-0963 (Linking)
VI  - 174
IP  - 4
DP  - 2016 Apr
TI  - Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: an 
      update.
PG  - 753-62
LID - 10.1111/bjd.14309 [doi]
AB  - 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.
CI  - (c) 2015 British Association of Dermatologists.
FAU - Blanco, I
AU  - Blanco I
AD  - Board of Directors of the Alpha1-Antitrypsin Deficiency Spanish Registry, Lung 
      Foundation Breathe, Spanish Society of Pneumology (SEPAR), Provenza, 108 Bajo, 
      08029, Barcelona, Spain.
FAU - Lipsker, D
AU  - Lipsker D
AD  - Faculte de Medecine, Universite de Strasbourg et Clinique Dermatologique, 
      Hopitaux Universitaires de Strasbourg, 1 Place de l'Hopital, 67091, Strasbourg 
      CEDEX, France.
FAU - Lara, B
AU  - Lara B
AD  - Respiratory Medicine Department, Royal Exeter and Devon Hospital, Exeter, U.K.
FAU - Janciauskiene, S
AU  - Janciauskiene S
AD  - 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, Germany.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20160127
PL  - England
TA  - Br J Dermatol
JT  - The British journal of dermatology
JID - 0004041
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
CIN - Br J Dermatol. 2016 Sep;175(3):646-7. PMID: 27035799
CIN - Br J Dermatol. 2016 Apr;174(4):711-2. PMID: 27115579
CIN - Br J Dermatol. 2016 Sep;175(3):647-8. PMID: 27463611
MH  - Adolescent
MH  - Adult
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neutrophils
MH  - Panniculitis/*etiology/pathology
MH  - Young Adult
MH  - alpha 1-Antitrypsin/physiology
MH  - alpha 1-Antitrypsin Deficiency/*complications/pathology
EDAT- 2015/11/26 06:00
MHDA- 2017/03/07 06:00
CRDT- 2015/11/24 06:00
PHST- 2015/11/17 00:00 [accepted]
PHST- 2015/11/24 06:00 [entrez]
PHST- 2015/11/26 06:00 [pubmed]
PHST- 2017/03/07 06:00 [medline]
AID - 10.1111/bjd.14309 [doi]
PST - ppublish
SO  - Br J Dermatol. 2016 Apr;174(4):753-62. doi: 10.1111/bjd.14309. Epub 2016 Jan 27.