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Alpha-1 Antitrypsin Deficiency

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Alpha-1 Antitrypsin Deficiency rarely affects the skin, however approximately one in one thousand individuals with the most common type of severe deficiency are diagnosed with Panniculitis, which is the inflammation of the panniculus, the layer of fatty tissue below the skin, appearing as red spots that may give an oily discharge and may turn into ulcers with necrosis.
Alpha-1 Antitrypsin Deficiency is caused by a mutation of the SERPINA1 gene that is responsible for synthesizing the protein. It is inherited as an autosomal co-dominant genetic condition. Meaning, each parent passes a different version of the gene to their child, so the chance of getting A1AD varies depending on which version of the gene is passed to the child.
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