A Case of Autoimmune Polyglandular Syndrome .ype 2 Associated with Atypical Form of Scleromyxedema

Abstract

Background: Autoimmune polyglandular syndrome type 2 represents an uncommon endocrine disorder composed by Addison's disease with autoimmune thyroid disease (Schmidt's syndrome) and/or type 1 diabetes mellitus. Scleromyxedema is a rare progressive cutaneous mucinosis usually associated with systemic involvement and paraproteinemia. To the best of our knowledge, there is no case report of Schmidt's syndrome associated with scleromyxedema.

Case details: A 34-year-old woman was admitted to Donetsk Clinical Territorial Medical Association due to acute general weakness, reduced vision, dryness of integuments, memory decline, fatigue, weight loss, rash on the face trunk and extremities. A diagnosis of APS type II was made comprising of autoimmune hypothyroidism and autoimmune adrenal insufficiency. Skin histopathologic examination demonstrated the presence of mucin deposits, dermal fibrosis, fibrocytes and perivascular inflammation. In the absence of monoclonal paraproteinemia and the presence of typical histological and clinical signs, an atypical form of scleromyxedema was diagnosed. The patient was administered a lifetime replacement levothyroxine and methylprednisolone therapy.

Conclusion: Identification and adequate treatment of both APS type II and scleromyxedema in affected patients pose a problem due to the lack of facilities for diagnosis and management plus common misdiagnosis. Early diagnosis should be made before the development of life-threatening complications.

Keywords: Addison's disease; Autoimmune polyglandular syndrome type II; Autoimmune thyroiditis; Scleromyxedema atypical form.

Figure 1

Papular skin eruption in a linear pattern on the upper trunk

Figure 2

“Doughnut sign” on the metacarpophalangeal joint

Figure 3

Leonine facies