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CORRESPONDENCE
Year : 2018  |  Volume : 63  |  Issue : 4  |  Page : 355-357
Cutaneous manifestation of Alpha-1 antitrypsin deficiency: A case of panniculitis


1 Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal
2 Department of Pneumology, Lung Transplant Unit, Centro Hospitalar São João EPE, Porto, Portugal
3 Department of Dermatology and Venereology, Centro Hospitalar São João EPE; Faculty of Medicine, University of Porto, Porto, Portugal

Date of Web Publication9-Jul-2018

Correspondence Address:
Dr. Sofia Lopes
Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto
Portugal
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.IJD_421_17

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How to cite this article:
Lopes S, Damas C, Azevedo F, Mota A. Cutaneous manifestation of Alpha-1 antitrypsin deficiency: A case of panniculitis. Indian J Dermatol 2018;63:355-7

How to cite this URL:
Lopes S, Damas C, Azevedo F, Mota A. Cutaneous manifestation of Alpha-1 antitrypsin deficiency: A case of panniculitis. Indian J Dermatol [serial online] 2018 [cited 2020 Jul 10];63:355-7. Available from: http://www.e-ijd.org/text.asp?2018/63/4/355/236223




Sir,

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder usually associated with hepatic and pulmonary manifestations.[1],[2] In rare and severe situations, a panniculitis may be present.[1],[2] It may present before the onset of other systemic manifestations giving a clue to an earlier diagnosis and adequate monitoring.[3]

A 49 year-old man was referred to our department due to painful and debilitating ulcers of the lower limbs evolving in the last few months, without previous trauma. He had medical history of severe AATD, with bipulmonary transplantation in 2010 complicated with bronchiolitis obliterans syndrome in 2015, as well as immunosuppressive drug-related diabetes mellitus. Physical examination revealed ulcerated lesions with a copious oily discharge and a pronounced edema of the lower limbs suggestive of AATD-related panniculitis [Figure 1]. Histologic examination of a skin biopsy showed mild acanthosis in the epidermis and extensive necrosis with a predominant neutrophilic inflammatory infiltrate and cytoesteatonecrosis throughout the dermis and hypodermis, confirming the suspected diagnosis [Figure 2]. Serum level of α-1 antitrypsin was low (51.8 mg/dL).
Figure 1: Ulcerated lesions mainly located in the anterior and lateral aspects of the lower extremities (a). A careful observation reveals an associated oily discharge (b)

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Figure 2: Predominantly neutrophilic infiltrate with concomitant cytosteatonecrosis (H and E ×40 a; ×200 b)

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The patient started treatment with topical fusidic acid two times daily with little improvement. A few weeks later, a cellulitis associated with panniculitis was diagnosed, requiring hospitalization due to elevated C-reactive protein and leukocytosis. He was treated with ertapenem plus vancomycin and silver dressings. The patient improved significantly in the following days.

AATD-related panniculitis usually appears around the age of 40 years and is a debilitating manifestation of the disease.[1] There are several possible precipitating factors for these skin lesions including trauma, surgery, debridement, and cryosurgery, but in our patient, none was found.[1] Tender plaques and nodules are usually present, but ulceration is the feature that helps to distinguish this panniculitis from other entities.[1],[3],[4] The presence of an oily discharge is also characteristic.[4] Lesions may be present not only in the lower extremities but also in the trunk or proximal extremities and usually heal with atrophic scars.[1],[2],[4]

Histologic examination reveals a predominantly lobular neutrophilic panniculitis with a mixture of necrotic fat lobules and areas without lesions.[2],[4]

There is no gold standard treatment for this panniculitis since only a few cases have been reported to date and no clinical trials have been previously conducted.[3] Several options may be considered, including corticosteroids, colchicine, doxycycline, among others.[1],[2],[5] Dapsone is an alternative and effective drug probably by reducing neutrophils migration and inhibiting oxidative reaction.[1] Replacement of AAT seems to be a successful approach to these patients, although the costs of this treatment are extremely high.[1],[3] Pulmonary transplantation is an option in some systemic manifestations of AATD, but not in the case of panniculitis, since no clinical improvement has been noted in previous cases.[5] In our patient, antibiotics contributed to the significant enhancement of the skin lesions probably due to their anti-inflammatory effect.

The recognition of AATD-related panniculitis is crucial since it may be the first manifestation of this systemic disease. Its high risk of complications and associated mortality explain the need of early treatment and close monitoring of these patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

We would like to thank Ana Rodrigues-Pereira, MD, for her contribution in the histological diagnosis of the disease.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
de Oliveira P, Paz-Melgar L, Takahashi MD, Nico MM, Rivitti EA, Mendrone A Jr., et al. Alpha-1-antitrypsin deficiency associated with panniculitis treated with plasma exchange therapy. Int J Dermatol 2004;43:693-7.  Back to cited text no. 1
    
2.
Laureano A, Carvalho R, Chaveiro A, Cardoso J. Alpha-1-antitrypsin deficiency-associated panniculitis: A case report. Dermatol Online J 2014;20:21245.  Back to cited text no. 2
    
3.
Cardoso JC. Panniculitis associated with alpha-1 antitrypsin deficiency: From early descriptions to current targeted therapy. Br J Dermatol 2016;174:711-2.  Back to cited text no. 3
    
4.
Geraminejad P, DeBloom JR 2nd, Walling HW, Sontheimer RD, VanBeek M. Alpha-1-antitrypsin associated panniculitis: The MS variant. J Am Acad Dermatol 2004;51:645-55.  Back to cited text no. 4
    
5.
Ortiz PG, Skov BG, Benfeldt E. Alpha1-antitrypsin deficiency-associated panniculitis: Case report and review of treatment options. J Eur Acad Dermatol Venereol 2005;19:487-90.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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