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Bilateral ankyloblepharon: more than a simple malformation.

F J Valentín-Bravo1, V M Asensio-Sánchez1, A Guerra-González1

  • 1Hospital Clínico Universitario de Valladolid, Valladolid, España.

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Summary

Ankyloblepharon filiforme adnatum involves eyelid adhesion in newborns, potentially linked to genetic conditions like ectodermal dysplasia. This case highlights associated congenital anomalies in a male infant.

Keywords:
AnkyloblepharonAnquilobléfaronDisplasia ectodérmicaEctodermal dysplasiaEyelid fusionFusión palpebral ;

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Ankyloblepharon filiforme adnatum is a congenital eyelid adhesion, typically resolving by the seventh fetal month.
  • It can occur as an isolated finding or alongside other systemic abnormalities.
  • Ectodermal dysplasia is a group of genetic disorders affecting skin, hair, nails, and teeth.

Observation:

  • A newborn male presented with extensible skin bands causing partial eyelid adhesion.
  • The infant had a family history of hypohidrotic ectodermal dysplasia.
  • Additional congenital anomalies included cleft lip, palatal absence, nail dysplasia, and supernumerary nipples.

Findings:

  • The case illustrates a complex presentation of Ankyloblepharon filiforme adnatum.
  • Co-occurrence with ectodermal dysplasia and other craniofacial and integumentary anomalies was noted.
  • This presentation suggests a potential genetic link or syndromic association.

Implications:

  • Early diagnosis and genetic counseling are crucial for affected families.
  • Understanding syndromic presentations aids in comprehensive patient management.
  • Further research into the genetic basis of Ankyloblepharon filiforme adnatum and its associations is warranted.