The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation

Abstract

The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the major clinical manifestation of the syndrome, followed by multicentric heart myxomas, which occur at a young age and are the lethal component of the disease. Myxomas may also occur on the skin (eyelid, external ear canal and nipple) and the breast. Breast myxomas, when present, are multiple and bilateral among female CNC patients, an entity which is also described as “breast-myxomatosis” and is a characteristic feature of the syndrome. Affected CNC patients often have tumours of two or more endocrine glands, including primary pigmented nodular adrenocortical disease (PPNAD), an adrenocorticotropin hormone (ACTH)-independent cause of Cushing’s syndrome, growth hormone (GH)-secreting and prolactin (PRL)-secreting pituitary adenomas, thyroid adenomas or carcinomas, testicular neoplasms (large-cell calcifying Sertoli cell tumours [LCCSCT]) and ovarian lesions (cysts and cancinomas). Additional infrequent but characteristic manifestations of CNC are psammomatous melanotic schwannomas (PMS), breast ductal adenomas (DAs) with tubular features, and osteochondromyxomas or “Carney bone tumour”.Teaching Points• Almost 60 % of the known CNC kindreds have a germline inactivating mutations in the PRKAR1A gene.• Spotty skin pigmentation is the major clinical manifestation of CNC, followed by heart myxomas.• Indicative imaging signs of PPNAD are contour abnormality and hypodense spots within the gland.• Two breast tumours may present in CNC: myxoid fibroadenomas (breast myxomatosis) and ductal adenomas.• Additional findings of CNC are psammomatous melanotic schwannomas (PMSs) and osteochondromyxomas.

Conjunctival Myxoma: A Synopsis of a Rare Ocular Tumor

“…9,10,17 HISTOCHEMICAL AND IMMUNOHISTOCHEMICAL STUDY The conjunctiva myxoma cells stain positive for Alcian blue (Figure 4) with dissolution of the color after treatment with hyaluronidase, revealing cells that contain abundant hyaluronic acid mucopolysaccharides. 7,11,16 The cells also stain positively with mucicarmine and colloidal iron. Periodic acid-Schiff stain is negative, demonstrating an absence of significant carbohydrate components, such as glycogen, glycoproteins, or proteoglycans.…”

“…Nucleoli may be present at rates of 1 or 2 per nucleus. 10,11 Ultrastructural examination reveals abundant, rough, endoplasmic reticulum and intracytoplasmic inclusions. The intracytoplasmic inclusions represent dilated cisternae of rough endoplasmic reticulum, which are theorized to have the secretory function of producing the mucoid stroma.…”

“…2,7 Oil red O stain for lipocytes and Bodian stain for neural material are negative. 10,11 Immunostaining of conjunctival myxoma cells show extensive reactivity with vimentin ( Figure 5) and focal staining for a-smooth muscle actin. 7,9,17 Several authors 18,19 have presented a few cases that stained negative for smooth muscle actin.…”

“…Lymphangiomas typically occur in younger individuals and are vascular, boggy tumors with hemorrhagic and inflammatory components. 7,11 Lymphomas and reactive lymphoid hyperplasia tumors contain significant lymphocyte populations. Lymphomas have a monocellular arrangement of lymphocytes.…”

Renal myxoma: an unexpected differential diagnosis

“…They can also be part of the Carney complex (myxomas, spotty pigmentation, endocrine overactivity, and schwannomas) [2]. To date, twelve cases of pure renal myxomas have been reported in the literature [3].…”