Ichthyosis Follicularis With Alopecia And Photophobia Syndrome

IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.^:564 It is extremely rare: there were only 40 known cases (all male) until 2011.

Symptoms and signs

The main symptoms are given by its name: dry, scaly skin (ichthyosis), absence of hair (atrichia) and excessive sensitivity to light (photophobia). Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.

Genetics

Most cases are X-linked recessive but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms. The gene or genes causing this disease are not known.

Diagnosis

Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.

Management

Our son has IFAD syndrome. Skin Treatment: We have found over the past few years (he's now 3) that diluting a little house hold bleach into his bath deters the onset of skin infection such as Staph. We dilute 10-15ml of bleach approximately 20-30 litres of luke warm water. After bathing we pat him down gently (not rub with the towel) and then apply a "UREA" based skin cream and follow that up with a second cream ( we use a brand called "QV". Regarding Ear infection - We mix a little vinegar with olive oil (or water) and apply two drops into the ear while he sleeps.

See also

• Cicatricial alopecia
• List of cutaneous conditions