Document Detail

Cutaneous manifestation of α₁-antitrypsin deficiency: panniculitis absent on biopsy.
MedLine Citation:
PMID:  24999642     Owner:  NLM     Status:  In-Data-Review    
Patients with α₁-antitrypsin (AAT) deficiency may develop cutaneous manifestations of the disorder that histologically appear as panniculitis. Algorithms consistently emphasize measuring AAT levels when both clinical and histological features of deficiency are present; however, the patient's medical history and a physical examination alone can be extremely helpful in guiding the physician to the diagnosis of AAT deficiency. We describe a patient who presented with the classic clinical findings of AAT deficiency-associated panniculitis with surprising absence of panniculitis on repeated deep incisional biopsies. We propose a triad of classic findings that should alert the clinician to check the patient's serum AAT levels, even in the absence of panniculitis on histologic evaluation. Consideration of this clinical triad may prevent delays in the diagnosis of AAT deficiency, as early lesions may not yet demonstrate subcutaneous fat involvement.
Jenna L Streicher; Michael P Sheehan; Andrew B Armstrong; Nico Mousdicas
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cutis     Volume:  93     ISSN:  2326-6929     ISO Abbreviation:  Cutis     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-07-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0006440     Medline TA:  Cutis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  303-6     Citation Subset:  IM    
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