This website provides information on patients with variants in the MBTPS2 gene, including clinical data, molecular data, management, and research opportunities.

Pathogenic variants in MBTPS2 are associated with 4 distinct phenotypes with overlapping features: (1) ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome with and without BRESHECK syndrome, characterized by congenital ichthyosis follicularis, alopecia, and photophobia with or without structural brain differences, intellectual disability, genitourinary malformations, structural heart disease, orofacial clefting, growth failure, skeletal abnormalities, and Hirschsprung disease, (2) keratosis follicularis spinulosa decalvans (KFSD) characterized by hyperkeratosis of the palms and soles, sparse hair, and photophobia, (3) Olmstead syndrome characterized by alopecia and mutilating plantopalmar keratoderma, (4), and Osteogenesis imperfecta characterized by recurrent fractures and brittle bones. Some of this variability is attributed to variant type, but there are reports of individuals with the same causal variant having disparate phenotypes.

This website was created to share and collect information about the clinical spectrum of MBTPS2-related diseases to inform clinical management guidelines and research.  

Alanna Strong, MD, PhD, Children’s Hospital of Philadelphia, Philadelphia, USA, strong.alanna@gmail.com

Hakon Hakonarson, MD, PhD, Children’s Hospital of Philadelphia, Philadelphia, USA, hakonarson@chop.edu