X-kromoszómához kötött recesszív
Caused by changes in MBTPS2 on the X chromosome, which activates proteins that regulate cholesterol and the cell's stress response. Boys are mainly affected.
Tünetek és jelek
Ichthyosis follicularis (spiny, scaly skin around hair follicles), absent or sparse scalp hair, eyebrows and eyelashes (atrichia) and marked light sensitivity (photophobia) are typical. Some people also have BRESHECK syndrome, which adds further features.
Mit változtat a diagnózis
Supportive skin and eye care, with developmental support where needed. Mothers may be carriers, so carrier testing of female relatives and genetic counselling are available.
Vizsgált gének
Más néven
ichthyosis follicularis atrichia photophobia syndrome; ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia; ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome with or without BRESHECK syndrome; IFAP syndrome with or without BRESHECK syndrome, X-linked recessive; IFAP/BRESHECK syndrome
