Ichthyosis follicularis with alopecia and photophobia syndrome

X-linked recessive.svg

Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP syndrome) is a rare genetic disorder characterized by the triad of ichthyosis, alopecia, and photophobia. This syndrome is typically inherited in an X-linked recessive manner, primarily affecting males, although females can be carriers and may exhibit milder symptoms.

Clinical Features

The hallmark features of IFAP syndrome include:

• Ichthyosis follicularis: This is a form of ichthyosis where the skin becomes dry, rough, and scaly. The scales are often spiny and can be found around hair follicles.
• Alopecia: This refers to the loss of hair, which can be partial or complete. In IFAP syndrome, alopecia is usually congenital and affects the scalp, eyebrows, and eyelashes.
• Photophobia: This is an extreme sensitivity to light, causing discomfort or pain in the eyes when exposed to light.

Other associated features may include keratitis, corneal opacities, mental retardation, and seizures.

Genetics

IFAP syndrome is caused by mutations in the MBTPS2 gene, which is located on the X chromosome. The MBTPS2 gene encodes a protein involved in the regulation of sterol regulatory element-binding proteins (SREBPs), which are crucial for lipid homeostasis and cell membrane integrity.

Diagnosis

Diagnosis of IFAP syndrome is primarily clinical, based on the characteristic triad of symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the MBTPS2 gene. Skin biopsy and histopathological examination may also support the diagnosis by revealing characteristic changes in the skin.

Management

There is no cure for IFAP syndrome, and treatment is mainly symptomatic and supportive. Management strategies include:

• Emollients and keratolytic agents to manage ichthyosis
• Sunscreen and protective eyewear to alleviate photophobia
• Wigs or other cosmetic solutions for alopecia
• Regular follow-up with dermatologists, ophthalmologists, and other specialists as needed

Prognosis

The prognosis for individuals with IFAP syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and appropriate management can improve the quality of life for affected individuals.

See Also

• Ichthyosis
• Alopecia
• Photophobia
• X-linked recessive inheritance
• MBTPS2

Related Pages

• Keratitis
• Corneal opacities
• Mental retardation
• Seizures
• Skin biopsy
• Histopathology