Prylutskyi Oleksander, Prylutska Olga, Degonskyi Anatoliy, Tkachenko Kseniia
Department of Clinical Immunology, Allergology and Endocrinology, Donetsk National Medical University, Ukraine.
Ethiop J Health Sci. 2016 Sep;26(5):503-507.
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.
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.
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.
2型自身免疫性多腺体综合征是一种罕见的内分泌疾病，由艾迪生病合并自身免疫性甲状腺疾病（施密特综合征）和/或1型糖尿病组成。硬化性黏液水肿是一种罕见的进行性皮肤黏蛋白病，通常伴有全身受累和副蛋白血症。据我们所知，尚无施密特综合征合并硬化性黏液水肿的病例报告。
一名34岁女性因急性全身无力、视力下降、皮肤干燥、记忆力减退、疲劳、体重减轻、面部、躯干和四肢出现皮疹，入住顿涅茨克临床地区医学协会。诊断为II型自身免疫性多腺体综合征，包括自身免疫性甲状腺功能减退和自身免疫性肾上腺功能不全。皮肤组织病理学检查显示存在黏蛋白沉积、真皮纤维化、纤维细胞和血管周围炎症。在没有单克隆副蛋白血症且存在典型组织学和临床体征的情况下，诊断为非典型硬化性黏液水肿。该患者接受了终身左甲状腺素替代治疗和甲泼尼龙治疗。
由于缺乏诊断和管理设施以及常见的误诊，识别和充分治疗受影响患者的II型自身免疫性多腺体综合征和硬化性黏液水肿存在问题。应在危及生命的并发症发生之前进行早期诊断。
