Maffucci Syndrome Associated With Adrenocorticotropic Hormone–Independent Bilateral Macronodular Adrenal Hyperplasia

Abstract

Context:Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands.Case Description:We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Given that endocrine diseases are common causes of secondary arterial hypertension and are often associated with Maffucci syndrome, a comprehensive diagnostic workup was performed, revealing the presence of large bilateral adrenal masses (70 mm right, 35 mm left) and autonomous cortisol secretion (adrenocorticotropic hormone–independent Cushing syndrome). The patient underwent a bilateral adrenalectomy, and steroid replacement therapy was initiated. Surgery resulted in a normalization of arterial blood pressure, and antihypertensive treatment was discontinued. Histological examinations revealed morphological features of primary bilateral macronodular adrenal hyperplasia.Conclusions:Early recognition and lifelong monitoring of Maffucci syndrome is required to identify and treat possible associated endocrine diseases and malignancies. Among them, unilateral cortical adrenal masses have been previously described, but to our knowledge, this is the first reported case of Maffucci syndrome associated with primary bilateral macronodular adrenal hyperplasia. Additional studies are needed to establish the etiopathological link between these 2 entities and, more in general, between Maffucci syndrome and endocrine diseases, but possible common genetic alterations may be suggested.

A Unique Association: Maffucci Syndrome and Cardiac Pathology

“…Maffucci’s syndrome has only been reported to be associated with arterial hypertension due to adrenal masses with autonomous cortisol secretion (adrenocorticotropic hormone-independent Cushing syndrome). 14 Two other cases of Maffucci’s syndrome have been reported to be associated with an adrenal cortex tumor. 15 , 16 …”

A boy with limb deformities and a blue lobulated mass of the palm

“…Annual full‐body MRI with semi‐annual physical examination and clinical monitoring by both clinician and the patient and family for symptoms suggestive of early malignancies have also been recommended . Surgical correction is indicated as early as possible for malignant lesions and bony deformities, along with rehabilitation using crutches, special shoes, or prosthetic devices …”