Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report

Abstract

The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas, broad forehead, widow's peak, abnormal eyebrow pattern, telecanthus, broad nasal bridge, maxillary hypoplasia, and ophthalmological abnormalities. We report a case of a milder variant of the nasopalpebral lipoma-coloboma syndrome that we have termed “nasopalpebral lipoma sine coloboma syndrome.” Such a milder variant is not reported hitherto in the literature. We also describe the surgical correction of the deformity in a case that presented in adulthood, with a satisfactory and pleasing aesthetic outcome.

Keywords

abnormalities - coloboma - lipoma

Publikationsverlauf

Artikel online veröffentlicht:
19. Mai 2023

• References

• 1 Penchaszadeh VB, Velasquez D, Arrivillaga R. The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. Am J Med Genet 1982; 11 (04) 397-410
• 2 Akarsu AN, Sayli BS. Nasopalpebral lipoma-coloboma syndrome. Clin Genet 1991; 40 (05) 342-344
• 3 Bock-Kunz AL, Lyon DB, Singhal VK, Grin TR. Nasopalpebral lipoma-coloboma syndrome. Arch Ophthalmol 2000; 118 (12) 1699-1701
• 4 Roarty JD, Pron GE, Siegel-Bartelt J, Posnick JC, Buncic JR. Ocular manifestations of frontonasal dysplasia. Plast Reconstr Surg 1994; 93 (01) 25-30
• 5 Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE. Syndromic lipomatosis of the head and neck: a review of the literature. Aesthetic Plast Surg 2015; 39 (03) 440-448
• 6 Balci S, Kayikcioglu A, Dagli AS. Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome. Clin Genet 1998; 54 (05) 440-442
• 7 Chacon-Camacho OF, Lopez-Martinez MS, Vázquez J. et al. Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. Am J Med Genet A 2013; 161A [phone]
• 8 Babu NS, Raviprakash D, Kumar R. Nasopalpebral lipoma coloboma syndrome. Indian J Ophthalmol 2011; 59 (05) 379-380
• 9 Moreira Gonzalez A, Jackson I. Surgical correction of the nasopalpebral lipoma-coloboma syndrome. Eur J Plast Surg 2003; 26: 263-267