ALLMedicine™ Pseudoxanthoma Elasticum Center

Feb 28th, 2023 - Pseudoxanthoma elasticum (PXE (OMIM 264800)) is an autosomal recessive connective tissue disorder mainly caused by mutations in the ABCC6 gene. PXE results in ectopic calcification primarily in the skin, eye and blood vessels that can lead to blin...

Feb 28th, 2023 - Pseudoxanthoma Elasticum-like Syndrome.|2023|Kumar M,Saifudeen AR,|

Feb 23rd, 2023 - To quantify choriocapillaris flow alterations in patients with pseudoxanthoma elasticum (PXE) in pre-atrophic stages and its association with structural changes of the choroid and outer retina. Thirty-two eyes of 21 patients with PXE and 35 health...

Feb 13th, 2023 - This is an epidemiological, descriptive and analytical, cross-sectional, monocentric study, carried out by telephone questionnaire on the national cohort of the PXE Reference Center in the Dermatology Department of the Angers University Hospital. ...

Feb 13th, 2023 - DS-1211b, a potent small-molecule inhibitor of tissue-nonspecific alkaline phosphatase, is being developed for the treatment ectopic calcification diseases such as PXE. This study will assess DS-1211b (low-, middle-, and high-dose tablets) adminis...

Feb 13th, 2023 - This is an epidemiological, descriptive and analytical, cross-sectional, monocentric study, carried out by telephone questionnaire on the national cohort of the PXE Reference Center in the Dermatology Department of the Angers University Hospital. ...

Feb 13th, 2023 - DS-1211b, a potent small-molecule inhibitor of tissue-nonspecific alkaline phosphatase, is being developed for the treatment ectopic calcification diseases such as PXE. This study will assess DS-1211b (low-, middle-, and high-dose tablets) adminis...

Jan 20th, 2023 - This is a natural history study of patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). GACI is an ultra-rare disorder with an estimated birth prevalence of around 1 in ...

Dec 23rd, 2022 - This study aims to systematically assess the retest reliability and ability to detect a change of new visual function tests and ophthalmological imaging methods for observing the natural course of pseudoxanthoma elasticum (PXE).

Dec 22nd, 2022 - Fahr's disease, scientifically known as primary familial brain calcification (PFBC), is a neurodegenerative disease in which all patients present with bilateral vessel associated calcifications in the basal ganglia in the absence of other secondar...

Jul 30th, 2019 - The Diagnosis: Milia En Plaque Biopsy results revealed a normal epidermis; the dermis showed multiple small cystic structures lined by a stratified squamous epithelium containing eosinophilic keratin surrounded by a mononuclear cell infiltrate and.

Jul 30th, 2019 - The Diagnosis: Milia En Plaque Biopsy results revealed a normal epidermis; the dermis showed multiple small cystic structures lined by a stratified squamous epithelium containing eosinophilic keratin surrounded by a mononuclear cell infiltrate and.

Sep 11th, 2018 - The Diagnosis: Pseudoxanthoma Elasticum Histopathology showed abnormal curled frayed elastic fibers in the mid dermis (Figure, A); von Kossa stain was positive for calcified and fragmented elastic fibers (Figure, B). Based on clinical and histolog.

Apr 7th, 2017 - Disseminated superficial actinic porokeratosis (DSAP) is a chronic condition characterized by numerous atrophic papules and patches with a distinctive peripheral keratotic ridge, typically found on sun-exposed areas. 1,2 Treatment of DSAP is warran.

Oct 3rd, 2014 - The Diagnosis: D-Penicillamine–Induced Elastosis Perforans Serpiginosa A 27-year-old woman was referred to our clinic by her rheumatologist with a 2×5-cm annular plaque on the right side of the lateral neck along with nummular plaques on the left.