Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing KFSD have been described MBTPS2 , the gene for membrane-bound zinc metalloprotease that involved cleavage of sterol regulatory element binding proteins important control transcription. Few families identified autosomal dominant KFSD...

Darier-White disease (also known as Darier disease or keratosis follicularis spinulosa decalvans) is a rare dominantly inherited skin disorder characterized by firm, scaly, cutaneous papules and plaques distributed over various regions of the body. Histopathologic and electron microscopic studies of biopsied skin specimens have revealed a loss of cell to cell adhesion and abnormal differentiati...

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification novel players in development. In 2016, we described first X-linked recessive form OI caused hemizygous MBTPS2 missense variants resulting moderate to severe phenotypes. encodes...

TS: trichodysplasia spinulosa TSPyV: trichodysplasia spinulosa polyomavirus INTRODUCTION Solid organ transplant patients are susceptible to rare and unusual dermatoses as a result of their chronic immunosuppression. Trichodysplasia spinulosa (TS) is one such rare clinical entity observed predominantly in immunosuppressed patients with a history of either solid organ transplantation on immunosup...

Vallisneria spinulosa is a freshwater aquatic plant of ecological and economic importance. However, there is limited cytogenetic and genomics information on Vallisneria. In this study, we measured the nuclear DNA content of Vallisneria spinulosa by flow cytometry, performed a de novo assembly, and annotated repetitive sequences by using a combination of next-generation sequencing (NGS) and bioi...

Alopecia areata is a common autoimmune disorder that leads to nonscarring hair loss. Black dots, also called comedo-like cadaver hairs, can be found in almost 50% of alopecia areata patients and indicate disease activity. Trichostasis spinulosa is a follicular disorder resulting from the retention of numerous hairs surrounded by a keratinous sheath in dilated follicles. Trichostasis spinulosa i...

We identified a new polyomavirus in skin lesions from a patient with trichodysplasia spinulosa (TS). Apart from TS being an extremely rare disease, little is known of its epidemiology. On the basis of knowledge regarding other polyomaviruses, we anticipated that infections with trichodysplasia spinulosa-associated polyomavirus (TSV) occur frequently and become symptomatic only in immunocompromi...