Scalp-ear-nipple syndrome: a case report

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.