A new form of alpha-chain disease with generalized lymph node involvement

Area of Science:

• Immunopathology
• Oncology
• Dermatology

Background:

• Alpha-chain disease (ACD) is a rare lymphoproliferative disorder characterized by the production of abnormal immunoglobulin heavy chains.
• Previous cases have primarily involved the gastrointestinal tract or respiratory system.

Observation:

• A unique autopsy case of ACD presented with generalized lymphadenopathy, mild splenomegaly, and chronic ichthyosiform skin eruptions.
• Histopathology revealed diffuse monomorphic plasmacytic lymphoma in lymph nodes, spleen, and bone marrow, with no significant gastrointestinal or pulmonary tumors.
• Immunohistochemistry and immunoelectron microscopy confirmed tumor cells producing IgA devoid of light chains (ACD protein) localized within the endoplasmic reticulum and perinuclear space.

Findings:

• The case exhibited distinct clinicopathological features, including persistent chronic inflammation and helper-inducer T cell infiltration in the skin.
• Dermatopathic lymphadenopathy was noted in lymph node biopsies, suggesting a link between skin inflammation and lymphoid involvement.
• The absence of typical ACD-associated visceral lesions and the specific immunophenotype suggest a novel presentation of ACD.

Implications:

• This case expands the known spectrum of alpha-chain disease presentations.
• It highlights the importance of considering ACD in patients with unexplained lymphadenopathy and skin conditions.
• Further research is warranted to understand the pathogenesis of this variant of ACD and its relationship to chronic inflammation.