Ascher’s syndrome - a rare variant of a rare syndrome

B ac K gro UND: a scher’s syndrome ( l affer– a scher syn- drome) is a disease of unknown etiology. i t was first described in 1920. t ypical presentation includes recurrent edema of the upper lip, upper eyelid resulting in a double lip and blepharo- faxase. i n 10% of cases, non-toxic idiopathic thyroid enlarge - ment also occurs. i n about 5% of cases there is the involve - ment of both the upper and lower lips. this syndrome can have an important psychological impact by having the puberty of onset. t his work describes surgical management and an over - view of the syndrome. t he importance of the knowledge of this rare framework allows to avoid a missed or wrong diagno- sis, translating a more rapid and correct patient management. Met H o DS : i n t his article we report two infrequent cases, one of classical a scher syndrome, and one with a rare vari - ant of this syndrome involving upper and lower lips. Both patients referred to the Maxillofacial Surgery Unit of the “Magna g raecia” University of c atan zaro. Surgery was per- formed removing mucosa and structures of submucosal layer (minor salivary glands), by transversal elliptical incision and by blunt dissection. c ase 1. a 22-year-old man presented at the Maxil lofacial Surgery c linic with a asymmetrical upper lip duplication. t his abnormality of the upper lips began to be evident during childhood. Upper eyelids bilaterally showed a dropping like a blepharochalasis. No evidence of thyroid goiter was highlighted. c ase 2. a 27-year-old man presented at the Maxillofacial Surgery c linic with a congenital sym - metrical lip duplication of upper and lower lips that was pre- sent from birth. t he upper lips showing a horizontal furrow on mucosal side with mucosal protrusions. He don’t refer to problems other than cosmetic ones. c a reful clinical evaluation revealed no abnormalities of the oral mucosa or the presence of palpable masses. Face and neck inspection highlighted the presence of blepharocalasis and likely goiter. Blood test and neck’s ultrasound examination confirmed presence of a euthyroid goiter. r e SU lt S : Both patients well tolerated surgery. No alteration of sensibility was reported Maintenance of adegue lips pro- file. Both patients achieved great satisfaction for the improve- ment of relational life and facial aesthetics. No recurrence was observed at 1 year of follow-up c o N cl US io N S: t he scientific literature actually describes less than 60 cases. Differential diagnosis for a sher’s syn - drome should also include vascular tumors, lymphangioma, angioedema, cheilitis granulomatosis, Miescher’s syndrome, salivary gland tumors, inflammatory fibrous hyperplasia, sar- coidosis and plasmacell cheilitis. e arly diagnosis in a scher’s syndrome prevents therapeutic delays. a dequate esthetic correction is possible ande sufficient to bring the patient back to “normality”, with a minimum risk of recurrence. Findings, blepharochalasis, double lips and goiter reported in this case are consistent with diagnosys of a scher syndrome. i mportance of recognition this signs have to alert surgeon to propose a diagnosis of ascher’s syndrome and so avoid unnecessary investigations and inappropriate surgery.