Alpha-antitrypsin deficiency

Crovato, Franco

doi:10.1001/archderm.113.2.236b

Cited by 10 publications

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“…α 1 ‐Antitrypsin deficiency is primarily associated with the development of panlobular emphysema, the development of which is closely related to tobacco smoking, but also with neonatal and adult noninfectious hepatitis, cirrhosis of the liver, persistent cutaneous vasculitis, acquired angio‐oedema and cold‐contact urticaria. In addition, partial deficiency of α 1 ‐antitrypsin has been associated with severe psoriasis 17–19 and angio‐oedema 20,21 …”

Section: Discussionmentioning

confidence: 99%

α₁‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

P¹,

Skov

Benfeldt³

2005

Acad Dermatol Venereol

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Alpha(1)-antitrypsin deficiency, a relatively frequent mutation in the population, is associated with the development of panlobular emphysema and liver cirrhosis. The deficiency is in rare cases associated with the development of panniculitis, and very differentiated clinical courses have been reported in the literature. We report a case of panniculitis in a patient with alpha(1)-antitrypsin deficiency and describe briefly the pathophysiology of the disease and current treatment possibilities.

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Section: Discussionmentioning

confidence: 99%

α₁‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

P¹,

Skov

Benfeldt³

2005

Acad Dermatol Venereol

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Panniculitis Associated With Severe a1-Antitrypsin Deficiency

Smith¹

1987

Arch Dermatol

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Panniculitis associated with homozygous severe alpha 1-antitrypsin deficiency was documented in three women hospitalized for painful cutaneous and subcutaneous ulcerations (severe panniculitis with spontaneous ulceration and drainage of clear or serosanguineous fluid). None had a history of trauma or infection. One patient responded rapidly and completely to treatment with dapsone. One patient, who had more extensive disease, failed to respond to prednisone plus dapsone; infusions of alpha 1-proteinase inhibitor concentrate led to resolution of her panniculitis. One patient who had severe and extensive panniculitis and pleural effusions failed to respond to corticosteroids but did well when both dapsone and infusions of alpha 1-proteinase inhibitor concentrate were added to her treatment program.

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Dermo‐distortive urticaria: An autosomal dominant dermatologic disorder

Epstein

Kídd

Opitz³

1981

Am. J. Med. Genet.

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A new hereditary physical urticaria, dermo-distortive urticaria (DDU), is described in a Christian Lebanese family. DDU is characterized by the appearance of pruritic, erythematosus, edematous, cutaneous swelling confined to the stimulated area in response to stimuli that vibrate or stretch the skin in a repetitive manner. The lesions appear within several minutes after stimulation and disappear within an hour. Extensive stimulation causes not only local urticaria but also a systemic response of faintness, headache, and facial erythema. Other than these annoying reactions, no other morbidity is associated with this disorder. While this disorder is certainly uncommon and its manifestations are more annoying than life threatening, it may be an important example of a heritable defect of inflammation control mechanisms. Although the mediator for the urticaria and systemic response was not isolated, a likely candidate is histamine. Computer analysis of the phenotype of 219 relatives in 6 generations shows that DDU is transmitted as an autosomal dominant trait with high penetrance. DDU is clinically distinct from hereditary angioneurotic edema, pressure urticaria, and dermographia. It is similar to vibratory angioedema (VA), but sufficient evidence to prove that DDU and VA are identical is not available.

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Alpha-antitrypsin deficiency

Cited by 10 publications

References 0 publications

α₁‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

α₁‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

Panniculitis Associated With Severe a1-Antitrypsin Deficiency

Dermo‐distortive urticaria: An autosomal dominant dermatologic disorder

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Alpha-antitrypsin deficiency

Cited by 10 publications

References 0 publications

α1‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

α1‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

Panniculitis Associated With Severe a1-Antitrypsin Deficiency

Dermo‐distortive urticaria: An autosomal dominant dermatologic disorder

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Product

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α₁‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options

α₁‐Antitrypsin deficiency‐associated panniculitis: case report and review of treatment options