ABSTRACT
Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM #U10100) is a rare autosomal-dominant disorder in which an eyelid malformation is associated (type I) or not (type H) with premature ovarian failure in the affected female. It is invariably characterized by 4 major features: (1) bilaterally shortened horizontal palpebral fissure (blepharophimosis); (2) severe impairment of the superior palpebral levator (ptosis); (3) a vertical skin fold arising from the lower eyelid, which inserts medially in the upper lid (epicanthus inversus) and (4) an increased inner can-thal distance with a normal outer canthal distance (telecanthus). The mutations causing this disorder are found in the FOXL2 gene, a forkhead transcription factor, located in 3q23. Although many patients with blepharophimosis-ptosis-epicanthus inversus syndrome have an affected parent, a conspicuous number of sporadic cases also have been reported. We describe here a sporadic case with a mutation in the FOXL2 gene that was well characterized both clinically and molecularly.
Subject(s)
Blepharophimosis/genetics , Blepharoptosis/genetics , DNA/genetics , Forkhead Transcription Factors/genetics , Mutation , Primary Ovarian Insufficiency/genetics , Adult , Child , Child, Preschool , Female , Forkhead Box Protein L2 , Genotype , Humans , Male , Middle Aged , SyndromeABSTRACT
BACKGROUND: Rhabdomyosarcoma is the most common childhood primary orbital malignancy, but the occurrence of this tumour in the conjunctiva is rare. METHODS: A 14-year-old girl presented with a visible case of conjunctival mass in the left eye. The year before, the patient was referred to another hospital for a biopsy of a conjunctival mesenchymal tumour in the same site, which was periodically checked after the excision. We intervened by partially removing the conjunctival mass. RESULTS: The histopathology revealed a botryoid rhabdomyosarcoma. The patient underwent chemotherapy and fractionated radiotherapy. The follow-up after three years revealed that the patient remained clinically tumor-free, with no ocular complication from the radiotherapy. CONCLUSION: It is evident that by not excising the tumour in its entirety it is therefore possible to preserve the underlying rectus muscles and not interfere with ocular motility. Subsequent radiotherapy and chemotherapy helped to destroy any residual tumour. Alternatively, surgical excision of the mass alone could lead to recurrence of the tumour after some months or years.
