CASE 920 Published on 25.02.2001

Multiple Hamartoma Syndrome

Section

Breast imaging

Case Type

Clinical Cases

Authors

G. Laureys, Ch. Van Ongeval, A. Van Steen

Patient

33 years, female

Categories
No Area of Interest ; Imaging Technique Mammography, Ultrasound, Mammography, Ultrasound
Clinical History
History of insulin dependent diabetes mellitus complaints of a growing and painful lump in the right breast.
Imaging Findings
The patient,with a history of insulin dependent diabetes mellitus, complained of a growing and painful lump in the right breast. Clinical examination revealed a hard, irregular, mobile lump of 2-3 cm in diameter. There were no skin changes, nipple loss, lymphadenopathies nor history of trauma. Mammography and ultra-sonography of the lesion were performed. The lesion was resected followed by a latissimus dorsi transposition and placement of a silicone prosthesis. One year later the patient noticed a hard, irregular lump retroareolar in the left breast (± 4 cm) and an induration in the upper part of the right breast, above the prosthesis. Again mammography and ultrasonography were performed.
Discussion
Mammary hamartomas are breast disorders that are currently underdiagnosed. A breast hamartoma, usually painless, may be palpable as a relatively soft mass or thickening similar to normal breast tissue. Mammography shows a sharply circumscribed inhomogeneous mass lesion separated from the adjacent normal breast tissue by a thin radiolucent zone and also called: “the breast in the breast”. Macroscopically, hamartomas are slightly larger and softer than common adenofibromas and, are well-defined, whitish, pinkish and fleshy, with islands of yellow fat tissue. Histologically, hamartomas exhibit pushing borders with a pseudo-encapsulation, and consist of a combination of variable amounts of stromal and epithelial components. Multiple hamartoma syndrome, also known as Cowden’s disease is a rare autosomal dominant condition. It is a mucocutaneous disease (gingival papillomas, acral and palmoplantar keratoses, facial trichilemmomas) with multiple organ – involvement (goiter, gastrointestinal polyps), in which malignancy, particularly of breast and thyroid gland, may develop. The disease can be diagnosed in its early stage by gingival and cutaneous manifestations. Hence, there is a role for the dentist in the early diagnosis of Cowden’s disease before malignant transformation may occur.
Differential Diagnosis List
Multiple hamartoma syndrome
Final Diagnosis
Multiple hamartoma syndrome
Case information
URL: https://eurorad.org/case/920
DOI: 10.1594/EURORAD/CASE.920
ISSN: 1563-4086