A clinical case of familial cutaneous amyloidosis

Abstract

Amyloidosis is a rare metabolic disease associated with the formation of an abnormal amyloid protein and has a complex mechanism of development in which hereditary, endocrine, enzyme and immune factors are involved. There are several types of amyloid, the main of which are AL – a derivative of the light chains of immunoglobulins, AA – a derivative of the acute phase of protein α-globulin and amyloid associated with keratin – AK. Amyloidosis can be systemic, with damage to various organs and tissues and localized (local). With localized amyloidosis of the skin, amyloid AK is mainly determined, with a nodular plaque variant – amyloid AK and AL. Amyloidosis of the skin mainly has a benign course, however, in 5–10 % of patients with a nodular–plaque variant of cutaneous amyloidosis, in the future amyloid changes in internal organs are formed, therefore this variant is potentially systemic.

A clinical case of familial cutaneous amyloidosis in a mother and a daughter is described. The disease began in the mother at the age of 58, in the daughter at 37 years old without any obvious reasons. In the mother, the cutaneous pathological process had a more pronounced character with the formation of multiple dense brownish-brown nodes in the hips and shins,1,5–2,0 cm in diameter, merging into large bumpy plaques with excoriations, serous-hemorrhagic crusts and small-plate peeling on the surface. In the daughter, single nodes with a diameter of 1,0–1,5 cm, with clear boundaries, without a tendency to merge, were observed on the back surface of the shins.

Histological and ultrasonic examination was used to confirm the diagnosis. Despite the fact that amyloidosis is difficult to treat, a positive dynamics resulting from the therapy was noted quite quickly in both women. Given the fact that nodular plaque amyloidosis of the skin may precede the systemic amyloidosis, both women need to undergo a follow-up observation from a therapist to monitor the general condition and a timely detection and correction of internal organ damage.

Keywords

nodular plaque amyloidosis of skin / systemic amyloidosis / genetic factors / histological examination of skin

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