Ichthyosis follicularis-alopecia-photophobia syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome is an X-linked hereditary disease with the three cardiac symptoms: ichthyosis (ichthyosis follicularis), alopecia and photophobia. The patients are primarly male, and already suffer from ichthyosis, alopecia and missing eyebrows and eyelashes at birth. 

Photophobia usually also occurs in the first year of life or in infancy. Other typical symptoms include dyskeratotic papules, complete hairlessness, collodion membranes, psoriatiform plaques, cheilitis, nail bed inflammation, nail dystrophy, hypohidrosis and atopic eczema.

The syndrome is caused by mutations in the MBTPS2 gene, which leads to disorders in the cholesterol homeostasis and a stress response of the endoplasmic reticulum.