Alpha-1-antitrypsin deficiency panniculitis.
Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity. Clinical manifestations typically consist of wide nodular lesions on the trunk and proximal extremities that evolve to ulceration and drainage. Histopathologically it presents as a mixed septal-lobular panniculitis pattern with some typical findings referred. Differential diagnosis from other types of panniculitis and neutrophilic dermatosis must be established. Different treatments, including tetracyclines, dapsone, and alpha-1-antitrypsin repositioning, have shown variable efficacy in controlling this disease.
Valverde
Ricardo
R
"Hospital Universitario Doce de Octubre", Universidad Complutense, Madrid, Spain.
Rosales
Belén
B
Ortiz-de Frutos
Francisco Javier
FJ
Rodríguez-Peralto
José Luis
JL
Ortiz-Romero
Pablo L
PL
D003937:Diagnosis, Differential; D006801:Humans; D015434:Panniculitis / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D010641:Phenotype; D012867:Skin / Q000473:pathology*; D000515:alpha 1-Antitrypsin / Q000235:genetics / Q000378:metabolism*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics / Q000378:metabolism
C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin