Disease: Ichthyosis- keratosis follicularis spinulosa decalvans
- A rare presentation of keratosis follicularis spinulosa decalvans in female twins
- Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study
- Histologic features of alopecias: part II: scarring alopecias
- Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2
- Keratosis follicularis spinulosa decalvans
- Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin
- Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome
- MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
- Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature
- Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family
- Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked <em>MBTPS2</em> Osteogenesis Imperfecta
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel <em>MBTPS2</em> variant in Osteogenesis imperfecta
- Primary cicatricial alopecia: Other lymphocytic primary cicatricial alopecias and neutrophilic and mixed primary cicatricial alopecias
- Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
- Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser
- The site-2 protease
- X-linked genodermatoses from diagnosis to tailored therapy