From Collodion Membrane to Alopecia

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genodermatosis characterized by follicular ichthyosis, alopecia, and photophobia; classical X-linked disease is caused by MBTPS2 variants, whereas autosomal dominant forms are associated with SREBF1 variants. The severe IFAP/BRESHECK phenotype may include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal defects, Hirschsprung disease, ear and eye anomalies, cleft palate, cryptorchidism, and kidney abnormalities. We present a 7-year-old male patient with a collodion membrane at birth, severe ichthyosis, alopecia, neurodevelopmental impairment, Hirschsprung disease, limbal stem cell deficiency, and the hemizygous pathogenic MBTPS2 variant NM_015884.4:c.1286G>A (p.Arg429His). This case highlights an uncommon combination of severe manifestations within the MBTPS2-related IFAP/BRESHECK spectrum and emphasizes the importance of multidisciplinary long-term follow-up.

Abstract from PubMed