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Scalp-ear-nipple syndrome: a case report.

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Summary

Scalp-ear-nipple (SEN) syndrome, a rare congenital condition, typically follows autosomal dominant inheritance. This study presents a case suggesting possible autosomal recessive inheritance, highlighting the syndrome

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Area of Science:

  • Genetics
  • Congenital Disorders
  • Dermatology

Background:

  • Scalp-ear-nipple (SEN) syndrome is a rare congenital disorder.
  • Key features include scalp defects, ear malformations, and absent nipples.
  • Most reported cases exhibit autosomal dominant inheritance patterns.

Purpose of the Study:

  • To report a case of SEN syndrome with a potentially different inheritance pattern.
  • To contribute to understanding the genetic heterogeneity of SEN syndrome.

Main Methods:

  • Clinical case report.
  • Review of existing literature on SEN syndrome inheritance.

Main Results:

  • A patient with SEN syndrome was identified.
  • The patient's presentation suggests a possible autosomal recessive mode of inheritance, differing from the typical autosomal dominant pattern.

Conclusions:

  • SEN syndrome demonstrates genetic heterogeneity.
  • Recognition of diverse inheritance patterns is crucial for accurate diagnosis and genetic counseling in SEN syndrome.