Breast Involvement in Ochronosis

A 66-year-old female presented with a palpable mass in her left breast. Physical examination revealed hard and irregular breasts with a non-mobile mass in the left upper inner quadrant. Diagnostic mammography (Figure 1) showed, as the most relevant and concerning finding, an irregular, spiculated, high-density mass in the upper inner left breast at the site of the palpable mass. Additional extensive bilateral irregular coarse calcifications with diffuse and symmetric distribution in an uncommon cobblestone-like pattern were found. US (Figure 2) showed an irregular mass with spiculated margins and heterogeneous echogenicity. US also demonstrated diffuse dystrophic calcifications producing significant posterior acoustic shadowing. A biopsy of the irregular mass was performed, confirming the diagnosis of invasive lobular carcinoma. Left breast lumpectomy was performed with US-guided localization of the mass. The surgical specimen, in addition to the primary tumor, showed diffuse dark patchy hyperpigmentation distributed throughout the breast parenchyma (Figure 3). Histological evaluation demonstrated multiple rounded brown ochronotic deposits in the connective tissue. With these findings, focused clinical examination noted dark hyperpigmentation of the bilateral sclera, auricles, and nails (Figure 4), which are typical clinical manifestations of ochronosis. Bilateral craniocaudal (A), mediolateral oblique (B), and mediolateral oblique spot compression views (C) show extensive bilateral irregular coarse calcifications with diffuse and symmetric distribution in an uncommon cobblestone-like pattern. In the upper inner quadrant of the left breast, at the site of the palpable area, an irregular, spiculated, high-density mass is observed (arrow), corresponding to the biopsy-proven invasive lobular carcinoma. US images of the right (A) and left breast (B) demonstrate diffuse dystrophic calcifications producing significant posterior acoustic shadowing. In the left upper inner quadrant (C), an irregular mass (arrows) with spiculated margins and heterogeneous echogenicity is identified. This was assessed as BI-RADS category 5, and subsequent biopsy showed invasive lobular carcinoma. Left lumpectomy surgical specimen. Primary tumor resection specimen (left) and a piece of normal mammary tissue (right) from a different location show dark patchy hyperpigmentation (arrows) from ochronosis pigments in the breast. Other typical clinical manifestations of ochronosis in our patient included hyperpigmentation secondary to ochronotic deposits in the sclera (Osler’s sign) (A) (arrow), auricle (B) (arrowhead), and nails (C) (asterisks). Ochronosis is a rare disorder resulting from alkaptonuria, an autosomal recessive abnormality of homogentisate oxidase enzyme function, which leads to the accumulation of homogentisic acid in fluids and tissues of the body. The accumulation of ochronotic pigments, as they are known, causes tissue damage with various clinical manifestations that are accentuated by the aging process. The most frequently affected tissues are connective tissue, hyaline cartilage, tendons, ligaments, and muscles. Breast manifestations include changes similar to those of fibrous mastopathy, such as dystrophic calcifications. Dark pigmented nipple secretions or breast milk are also seen. The accumulation of ochronotic pigment in the mammary stroma serves as a stimulus for the development of dystrophic calcifications. The typical appearance on mammography includes diffuse bilateral and symmetric coarse calcifications, which become more abundant as the aging process continues. There is no definitive treatment for this disease, which is progressive in most cases, and the prognosis varies according to the affected organs and severity. Specifically in the breast, the decision regarding conservative versus surgical management must be individualized and depends on whether the patient presents with pain, discomfort, or deformity. Special thanks to our dear patient, who from the beginning was interested in us sharing her case. None declared.

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