Acromegaloid Facial Appearance: Case Report and Literature Review
January 2013
in “
Case reports in endocrinology
”
TLDR The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
The document discusses acromegaloid facial appearance (AFA) syndrome, a condition characterized by features similar to acromegaly, such as coarse facial features, a bulbous nose, and thickened lips, but without abnormalities in growth hormone function. AFA has been reported in approximately eight cases or families and has a variable mode of inheritance. The case presented involves a 57-year-old woman with an acromegaloid appearance since birth and terminal hypertrichosis, but with normal endocrine laboratory and chromosomal analyses. The document emphasizes the importance of considering AFA in patients with pseudoacromegaly and calls for the identification of additional cases to better understand AFA's clinical spectrum, implications, and inheritance patterns.
