Coarse Facies Differential Diagnosis (Non-Congenital)
Single Most Likely Diagnosis
- Acromegaly: This condition, resulting from excess growth hormone, often presents with coarse facial features, including a prominent jaw, nose, and forehead, due to the late onset of growth hormone effects. It's a common cause of acquired coarse facies in adults.
Other Likely Diagnoses
- Hypothyroidism: Especially if untreated or undertreated, can lead to coarsening of facial features, dry skin, and hair loss. The facial changes are due to the accumulation of mucopolysaccharides in the skin.
- Cushing's Syndrome: Caused by excess cortisol, can lead to facial rounding, hirsutism, and other changes that might be perceived as a coarsening of the facial features.
- Diabetes Mellitus: Particularly when poorly controlled, can lead to changes in facial appearance due to glycosylation of proteins and possible underlying conditions like acromegaly or hypothyroidism.
Do Not Miss Diagnoses
- Mucopolysaccharidosis (MPS): Although less common than the single most likely diagnosis, MPS can present with coarse facies and is critical to diagnose due to its implications for management and prognosis. It's a group of metabolic disorders caused by the absence or malfunctioning of enzymes needed to break down and recycle sugar molecules.
- Amyloidosis: A condition characterized by the deposition of amyloid (a particular type of protein) in various tissues, which can lead to changes in facial appearance among other systemic symptoms. It's crucial to identify due to its potential for serious complications.
Rare Diagnoses
- Lipodystrophy: A group of rare disorders characterized by the selective loss of body fat, which can lead to changes in facial appearance, among other symptoms.
- Pompe Disease: A genetic disorder caused by the deficiency of acid alpha-glucosidase, leading to the accumulation of glycogen in muscles and potentially affecting facial features.
- Fabry Disease: An X-linked lysosomal storage disorder that results from the buildup of a particular type of fat in the body's cells, affecting many parts of the body and potentially leading to changes in facial appearance.