Sluchay generalizovannoy formy bolezni Kheyli-Kheyli, assotsiirovannoy s adenomoy-mielolipomoy nadpochechnika

The paper describes a case of generalized Hailey-Hailey disease associated with adrenal adenoma-myelolipoma in a 38-year-old woman. Erythematous-squamatous, vesicular eruptions on the skin of the abdomen and lower extremities first appeared at the age of 30 years. Concurrently with skin eruptions, there was periodically occurring headache and extremity pains, episodes of blood pressure elevation, weight gain, and multiple spontaneous bone fractures. When the patient was 37 years old, she was diagnosed as having a mixed adrenal tumor (adenoma-myelolipoma). Endoscopic retroperitoneal adrenalectomy was carried out. Within the following 2 months after surgery, skin eruptions took generalized forms with natural folds being involved in the pathological process. The investigators identified the gene (ATP2C1) responsible for the occurrence of Hailey-Hailey disease. The above gene encodes Ca2+-transport ATPase (SPCA1) that is synthesized by the tissue cells of all organs. These findings suggest that ATP2C1 gene mutation may result in the development of an extracutaneous pathological phenotype, for example, in visceral lesions and/or tumor development, which is seen in severe cases of Hailey-Hailey disease. To support or disprove the above assumption needs further collection of information on the similar document-based notified clinical cases.

Hailey-Hailey disease, tumor, gene mutation