Cutaneous Manifestation of Alpha-1 Antitrypsin Deficiency: A Case of Panniculitis.

Sir,

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder usually associated with hepatic and pulmonary manifestations.[12] In rare and severe situations, a panniculitis may be present.[12] 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)

Figure 2

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

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.[134] 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.[124]

Histologic examination reveals a predominantly lobular neutrophilic panniculitis with a mixture of necrotic fat lobules and areas without lesions.[24]

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.[125] 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.[13] 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.

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Conflicts of interest

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