Acromegaloid Facial Appearance Syndrome: A New Case in India

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies, a long bulbous nose, high-arched eyebrows, and thickening of the lips, oral mucosa leading to exaggerated rugae and frenula, furrowed tongue and narrow palpebral fissures. We report a case of acromegaloid facial appearance syndrome in a 19-year-old male patient who presented with all the characteristic features of the syndrome along with previously unreported anomalies like dystrophic nails, postaxial polydactyly and incisal notching of teeth.

Acromegaloid Facial Appearance Syndrome with Generalized Hypertrichosis Terminalis / 대한피부과학회지

Acromegaloid facial appearance (AFA) syndrome is a rare autosomal dominant disease, consisting of an acromegaloid face, a bulbous nose, and narrowing of the palpaebral fissure. In 1996, Irvin first reported a case of a combination of acromegaloid facial appearance syndrome and congenital hypertrichosis, and reported this case as a new disease of acromegaloid facial appearance with generalized hypertrichosis terminalis, which is differentiated from both AFA syndrome and congenital hypertrichosis/gingival hyperplasia. We report herein the first Korean case of acromegaloid facial appearance with generalized hypertrichosis terminalis.