Cutaneous manifestation of α₁-antitrypsin deficiency: panniculitis absent on biopsy.

Abstract

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.

• Authors: Jenna L Streicher, Michael P Sheehan, Andrew B Armstrong, Nico Mousdicas
• Journal: Cutis (Cutis) Vol. 93 Issue 6 Pg. 303-6 (Jun 2014) ISSN: 2326-6929 [Electronic] United States
• PMID: 24999642 (Publication Type: Case Reports, Journal Article)

Chemical References

• Anti-Infective Agents
• alpha 1-Antitrypsin
• Dapsone

Topics

• Anti-Infective Agents (administration & dosage)
• Dapsone (administration & dosage)
• Female
• Humans
• Middle Aged
• Panniculitis (drug therapy, etiology, pathology)
• Treatment Outcome
• alpha 1-Antitrypsin (administration & dosage)
• alpha 1-Antitrypsin Deficiency (complications, drug therapy)