Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report.

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.

Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome.

INTRODUCTION: Blepharophimosis Syndrome (BPES) is a complex and rare disease characterized by epicanthus inversus, telecanthus, lateral ectropion, narrowed or shortened inter-palpebral fissure distance and ptosis. It is mostly bilateral and may or may not be symmetrical. It is typically inherited as an autosomal dominant trait. In sporadic cases, the disease may occur without a prior family history as a genetic mutation from a deletion or translocation of the FOXL2 gene, which maps to chromosome 3q23. Surgical treatment of this disease poses an oculoplastic challenge due to multiple complex eyelid deformities. AIM: To evaluate the functional and cosmetic outcome of telecanthus and epicanthus correction by a Mustarde's rectangular double Z-Plasty and trans-nasal fixation using 1-0 prolene suture in BPES. MATERIALS AND METHODS: This was prospective, interventional study of 16 patients over a period of three years. In this study, all patients had BPES with prominent epicanthus and telecanthus. Mustarde's double Z-plasty and trans-nasal fixation with 1-0 prolene suture was performed in the first of a two-stage operation. If ectropion was present, the lateral ectropion was corrected by a base-out flap transfer from the upper eyelid to the lower eyelid. After three months, a 2nd stage was undertaken, involving a lateral canthoplasty for horizontal widening of a short palpebral fissure and a tarso frontalis sling with silicone rod for correction of moderate to severe ptosis. Patients were followed up for six months to one year with postoperative ophthalmologic examinations and photographs. RESULTS: Out of 16 patients, 10 were females and six were males. All the patients had bilateral involvement. In this study preoperative Inner Intercanthal Distance (IICD) ranged from 38 mm to 42 mm and the mean IICD was 41.2±0.57 mm. Postoperative IICD ranged from 31 mm to 34 mm. Horizontal Palpebral Fissure Length (HPFL) ranged from 20 mm to 23 mm and the mean value of HPFL was 21.50 mm preoperatively. Postoperative HPFL ranged from 26 mm to 29 mm and had a mean value of 28.50 mm, which was much improved after a combined correction of telecanthus and lateral canthoplasty. The mean preoperative IICD and HPFL ratio was 1.77 and was reduced to a postoperative value of 1.2. The Marginal Reflex Distance1 (MRD-1) test value improved from +1.25 mm to +3.50 mm postoperatively after placement of a tarsofrontalis sling with silicone rod using the Fox's Pentagon technique. In this study, two eyes had minimal unequal correction but were cosmetically and functionally acceptable. Correction of IICD is possible up to 6 mm. No major complication e.g., CSF rhinorrhea was noted in this series and preoperative prominent epicanthal folds were abolished. CONCLUSION: Here we propose a two-staged procedure involving a combined Mustarde's double Z-plasty with transnasal fixation using a 1-0 prolene suture with a flap transfer from the upper lid to the lower lid in the first stage and a lateral canthoplasty with a tarsofrontalis sling and silicone rod in the second stage. This technique is effective to correct epicanthus, telecanthus, ptosis and lateral ectropion in BPES with good cosmetic and functional outcome.

Total Upper Eyelid Reconstruction with Modified Cutler-Beard Procedure Using Autogenous Auricular Cartilage.

INTRODUCTION: Malignant tumour in upper lid is a surgical challenge to oculoplastic surgeon. Full thickness defect created after removal of large tumour promptly treated with modified cutler beard procedure using autogenous auricular cartilage. Surgical procedure is two staged: In first stage, removal of the tumour followed by full thickness flap repaired; In second stage, opening the closed lid with lid margin repair. Post-operatively, there is good anatomical, functional and cosmetic restoration of the eyelid similar to the other eye. AIM: To evaluate the efficacy of the modified Cutler-Beard procedure using autogenous ear cartilage for tarsal plate reconstruction in the repair of 70-100% upper eyelid defects. MATERIALS AND METHODS: This is a prospective, interventional case series of 16 patients over a period of three years. Patients with upper eyelid defects, secondary to removal of tumour, greater than or equal to 70% were included. Of these patients, those with lymph node involvement, distant metastasis, lower eyelid involvement, corneal infiltration or intra-orbital extension were excluded. FNAC was done in all the cases. Created defect was measured in mm (length and width) and later expressed in percentage. Pre and Post-operative measurement of Levator Palpebrae Superioris (LPS) was done. Pre and Post-operative measurement of Margin to Reflex Distance (MRD1) were also noted. RESULTS: Upper eyelid recreation was successful in all patients without complications. Pre-operative LPS action ranged from 0-4 mm, while post-operative LPS action was 12-14 mm. Pre-operative MRD1 ranged from -4 millimeters to -1 mm, while post-operative MRD1 was +3 to +4 millimeters. The follow-up period ranged from six months to two years. Every patient had a successful upper eyelid reconstruction. CONCLUSION: The modified Cutler-Beard procedure using an autogenous auricular cartilage graft is an effective procedure for repair of large upper eyelid defects, with acceptable functional and cosmetic results. Furthermore, it is particularly useful in resource-poor areas, due to lower cost than other available options.