Ichthyosis Follicularis with Atrichia and Photophobia (IFAP)

Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) with or without BRESK/BRESHECK syndrome has been associated with mutations in the MBTPS2 gene.

IFAP syndrome is characterized by the triad of follicular ichthyosis, total or subtotal atrichia, and of photophobia to variable degree. Congenital atrichia is most prevalent and most affected boys have total atrichia at birth. A subgroup of patients has been described with lamellar rather than follicular ichthyosis. Less common features include nail dystrophy, growth and psychomotor retardation, aganglionic megacolon, and seizures. Female carriers may show features of the disorder, including a linear pattern of follicular ichthyosis, mild atrophoderma, hypotrichosis, and hypohidrosis. Some individuals may have additional features, which constitute BRESK/BRESHECK syndrome. These features include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies, with or without Hirschprung disease and cleft palate or cryptorchidism. 

Tests Available

Forms and Documents

Test Details

MBTPS2
  • Confirmation of a clinical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis for known familial mutations
  • Capillary Sequencing

Ordering

693
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Oeffner et al., (2009). Am J Hum Genet 84: 459-467.
  2. Naiki et al., (2011). Am J Med Genet Part A 158A: 97-102.
  3. Aten et al., (2010). Hum Mutat 31(10): 1125-1133.