Striking Facial Appearance

CLINICAL DIAGNOSIS MANUAL

“Striking facial appearance” refers to changes or distinctive features in facial appearance that may be indicative of certain medical conditions. These changes can include alterations in facial expression, bone structure, skin texture, and more.

Pathology	Diagnosis of Suspicion	Diagnosis of Confirmation
Parkinson’s Disease	Fixed facial expression or “mask”, slow movements, resting tremor.	Neurological evaluation, response to dopaminergic medications, MRI or CT if exclusion of other causes is needed.
Huntington’s Chorea	Involuntary movements, changes in personality and cognition.	Genetic testing to identify trinucleotide expansion in the HTT gene.
Bilateral Upper or Lower Motor Neuron Lesion	Facial weakness, changes in expression, asymmetry.	Imaging studies such as MRI or CT, nerve conduction studies, and electromyography.
Thyrotoxicosis	Exophthalmos, nervousness, increased heart rate, weight loss.	Thyroid function tests showing elevated T3 and T4 levels and suppressed TSH.
Hypothyroidism	Facial oedema, dry skin, fatigue, weight gain.	Thyroid function tests showing elevated TSH and low T3 and T4.
Acromegaly	Enlargement of the jaw, lips, nose, and increase in foot size.	Elevated IGF-1 levels, oral glucose tolerance test for GH.
Cushing’s Syndrome	Moon face, dorsal fat pad, thin skin.	Dexamethasone suppression tests, measurement of cortisol levels in blood and urine.