IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia

Area of Science:

• Medical Genetics
• Dermatology
• Pediatrics

Background:

• Ichthyosis follicularis with atrichia and photophobia syndrome is a rare X-linked disorder.
• Characterized by follicular ichthyosis, congenital alopecia, and photophobia.
• The full spectrum of clinical manifestations is not well-defined.

Purpose of the Study:

• To present a case of ichthyosis follicularis with atrichia and photophobia syndrome.
• To describe additional clinical findings and neuroimaging results.
• To contribute to the understanding of this rare genetic disorder.

Main Methods:

• Clinical case presentation of a 3-year-old male.
• Review of family history.
• Magnetic resonance imaging (MRI) of the brain.

Main Results:

• The patient exhibited typical features plus severe growth failure, mental retardation, seizures, keratitis, nail anomalies, and inguinal hernia.
• MRI revealed previously undescribed corpus callosum hypoplasia.
• Two maternal male relatives were similarly affected.

Conclusions:

• This case expands the known clinical and radiological spectrum of ichthyosis follicularis with atrichia and photophobia syndrome.
• Corpus callosum hypoplasia may be a feature of this X-linked disorder.
• Further research is needed to elucidate the genetic basis and full phenotypic variability.