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Last Updated: 10/31/2025
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Found 85 publications
A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: May 11, 2025
Keratosis Follicularis Spinulosa Decalvans Associated With Woolly Hair: A Case Report.
Journal: Cureus
Published: July 26, 2024
X-linked genodermatoses from diagnosis to tailored therapy.
Journal: La Clinica terapeutica
Published: November 23, 2023
Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.
Journal: The Journal of dermatology
Published: July 07, 2023
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Journal: Frontiers in endocrinology
Published: March 28, 2023
Keratosis follicularis spinulosa decalvans in a woman with XY karyotype.
Journal: International journal of dermatology
Published: September 05, 2022
Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.
Journal: Clinical and experimental dermatology
Published: April 25, 2022
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Journal: Frontiers in genetics
Published: April 01, 2021
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.
Journal: Frontiers in genetics
Published: February 01, 2021
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
Journal: Journal of translational medicine
Published: January 16, 2021
The Role of Trichoscopy in Keratosis Follicularis Spinulosa Decalvans: Case Report and Review of the Literature.
Journal: Skin appendage disorders
Published: June 08, 2020
Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser.
Journal: Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
Published: March 21, 2019
Last Updated: 10/31/2025