Results 81 to 90 of about 9,632 (186)
Calcinosis cutis: A rare feature of adult dermatomyositis [PDF]
Dermatomyositis is an idiopathic inflammatory myopathy with characteristic cutaneous manifestations. We describe a case of a 55- year-old woman with dermatomyositis who presented with dystrophic calcinosis resistant to medical ...
Lobo, I. +7 more
core +1 more source
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs +10 more
wiley +1 more source
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Calcinosis Cutis in a Newborn with Transient Pseudohypoparathyroidism
Pseudohypoparathyroidism (PHP) is a heterogenous group of disorders characterized by hypocalcemia with hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biological activity of PTH.
Hacer Ergin +9 more
core +1 more source
Hypocalcemia most frequently occurs in premature neonates. It is usually treated by intravenous (iv) calcium supplementation. However, complications caused by extravasation of iv calcium gluconate include localized soft tissue calcification, necrosis ...
Tuo-Kang Chen +2 more
doaj +1 more source
Iatrogenic calcinosis cutis: A rare cytological diagnosis
Calcinosis cutis is an uncommon condition characterized by the deposition of calcium salts in the subcutaneous tissues of the body. Calcifications can also occur in a variety of other clinical settings and can be subjected to fine-needle aspiration (FNA).
Gopal Krishna Sawke +2 more
core +1 more source
Sclerosing diseases of the skin
Summary Sclerosing skin diseases comprise a group of distinct dermatological conditions characterized by fibrotic changes that may severely impair patients’ quality of life. These conditions often present with cutaneous manifestations and, in some cases, may extend to extracutaneous tissues, potentially resulting in significant morbidity and mortality.
Yasamin Kalantari +4 more
wiley +1 more source
Subepidermal calcified nodule in upper eyelid: A case report and review of the literature
Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases.
Rehab Monir Samaka +2 more
doaj +1 more source
Idiopathic calcinosis cutis of the vulva
In the present study, calcinosis cutis (CC) is defined as the deposition of amorphous calcium and phosphate salts under epidermis and it may be caused by a pre-existing event such as extravasation injury or hypercalcemic conditions. Idiopathic CC cases have no underlying disease or pre-existing cause.A demostrative vulvar idiopathic CC case ...
Yusuf K Coban +2 more
openaire +3 more sources

