[Panniculitis revealing alpha-1 antitrypsin deficiency. Report of 3 cases].
We report panniculitis revealing alpha-1 antitrypsin deficiency in 3 patients with different Pi phenotypes. The first patient, a 16-year-old woman, had inflammatory skin lesions on the abdomen for 6 months. The lesions regressed spontaneously. Serum alph-1 antitrypsin level was normal but the Pi phenotype was MS. The second case was observed in a 56-year-old man who developed erythematous subcutaneous nodules on the abdomen, legs and buttocks in a trauma context. Serum alpha-1 antitrypsin was very low and the Pi phenotype was ZZ. The third patient was a 40-year-old woman who presented red swelling nodules on the legs. Her serum alpha-1 antitrypsin level was at the lower limit of normal and the Pi phenotype was MZ. Alpha-1 antitrypsin deficiency is an autosomic codominant inherited disorder characterized by inefficient or non-functional serum alpha-1 antitrypsin. The principal clinical manifestations are panlobular emphysema and cirrhoses. About 30 cases of panniculitis have been reported in the literature. In patients presenting panniculitis, we suggest studying the Pi phenotype to determine functional deficiency even if the serum level of alpha-1 antitrypsin is normal.
Albes
B
B
Service de Dermatologie, Cedex, France.
Bayle-Lebey
P
P
Bazex
J
J
Lamant
L
L
D000005:Abdomen; D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007866:Leg; D008875:Middle Aged; D015434:Panniculitis / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics
Panniculite révélant un déficit en alpha 1-antitrypsine.