[MIM 308 205]

(Follicular Ichthyosis-Atrichia-photophobia syndrome)

Acronym for: Ichthyosis Follicularis-Atrichia-Photophobia.

Very rare. X-linked recessive transmission of a mutation of the MBTPS2 gene (Xp22.12-p22.11) involved in the cholesterol homeostasis and endoplasmic reticular stress response.

Association, in boys, of:

• congenital follicular ichthyosis: hyperkeratosic follicular papules in the form of non-inflammatory spines, of symmetrical distribution, mostly on the extension face of the limbs and on the scalp
• alopecia affecting the scalp, the eyebrows and the eyelashes,
• photophobia already present in infants. Corneal ulceration and vascularization can lead to progressive corneal scarring, with a progression to blindness. Atypical keratoconjunctivitis, cataract, horizontal nystagmus, astigmatism and myopia have been reported.
• sometimes: a collodion membrane of varying severity may be present in the newborn (see collodion baby). Psoriasiform plaques, angular cheilitis, peri-ungueal inflammation, ungueal dystrophy, hypohidrosis and atopic eczema may also exist.
• repeated infections are common.

Women may experience discrete manifestations (hyperkeratosic skin lesions following the Blaschko lines, asymmetrical body hair, alopecia patches).

Treatment: follicular hyperkeratosis can be treated with keratolytics and urea-based ointments. Some patients respond to acitretin treatment. Intensive lubrication of the eye surface is essential. Cardiopulmonary complications are the leading cause of death.

In case of association of the IFAP triad and mild to severe intellectual deficit, short stature, brain abnormalities or microcephaly, epilepsy, facial dysmorphism (bulging forehead, choanal atresia, prominent ears), split hands, Hirschsprung's disease, renal dysplasia, cleft palate, cardiac or vertebral malformations, it is the IFAP/BRESHECK  syndrome or IFAP2 due to a mutation of the SREBF1 gene (17p11).

Anesthetic implications: 

protection of the eyes, fragile skin, check for associated diseases

References : 

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Updated: December 2020