Dr.Minal Dattatraya Kanhere, M19875
A 18yr/M presented an unsightly appearing,congenital hyperpigmented growth on the left side of the face&neck &inability to open left eye .Skeletal deformity&history of a seizure¶lysis present.LE:PL+.Upper lid coloboma,mechanical ptosis,ectropion&hyperpigmented mass(3x2x1cm)&lateral canthal disinsertion present.Dry ocular&dysplastic cornea.BScan showed irregular enlarged globe(26mm)&posterior chamber disclocated calcified lens.Skin Biopsy:nevus sebaceous of Jadassohn.Diagnosis of Schimmelpenning Syndrome was made.Eyelid resection&ocular surface reconstruction done with Amniotic membrane graft under nil visual prognosis.Cheek, forehead&neck lesions were excised.Good recovery with near normal lid position,rendered an acceptable cosmetic outcome.Schimmelpenning synd includes epidermal hamartomas&extra-cutaneous abnormalities,due to postzygotic genomic mosaicism.At all strata,cosmesis is important for patient.This can be achieved by multispeciality approach in such complex situations.
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