Results 71 to 80 of about 26,197 (254)

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Dermoid cysts are congenital inclusion lesions that arise from ectodermal entrapment along embryonic fusion lines; occipital extracranial involvement is particularly uncommon. Cardiofaciocutaneous syndrome type 4 (CFC4), a RASopathy caused by pathogenic variants in MAP2K2, presents with characteristic dermatologic, craniofacial, and ...
Mona Alkallabi, Khalid Nabil Nagshabandi, Naif Ahmed Alshehri, Hala Abdullah Almusa, Almunthir Saud Alhamed   +4 more
wiley   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, Volume 108, Issue 5, Page 599-603, November 2025.
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, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Epidemiology and treatment of calcinosis cutis: 13 years of experience

Indian Journal of Dermatology, 2020
Background: Calcinosis cutis is a rare condition associated with different diseases, which is difficult to manage. Aims and Objectives: In this retrospective study, the epidemiology of calcinosis cutis and the effectiveness of various treatment regimens ...
Lili Róbert, Norbert Kiss, Márta Medvecz, Enikő Kuroli, Miklós Sárdy, Bernadett Hidvégi   +5 more
doaj   +1 more source

Calcinosis Cutis in Juvenile Systemic Sclerosis [PDF]

Cureus
Juvenile systemic sclerosis (JSSc) is a rare autoimmune disorder that primarily affects children and adolescents. It is thought to be caused by a confluence of immunological, environmental, and genetic variables. The disease is characterized by excessive
Balaji D, Mohanasundaram K, Gopalakrishnan K.   +2 more
europepmc   +2 more sources

Metastatic Calcinosis Cutis: Unusual Locations in End-Stage Renal Disease. [PDF]

Cureus
Metastatic calcinosis cutis is a rare consequence of end-stage renal disease (ESRD), which occurs due to elevated levels of serum phosphorus and abnormal phosphate and calcium metabolism, leading to the precipitation and deposition of calcium in the ...
Asoy JCC, Yap JLD.
europepmc   +2 more sources

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
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, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Exuberant calcinosis and acroosteolysis. A diagnostic challenge [PDF]

, 2009
A case of exuberant acroosteolysis and subcutaneous tissue calcinosis in the absence of skin involvement is presented.
Ambrósio, C, Malcata, AB, Matucci-Cerinic, M, Pereira da Silva, JA, Saavedra, MJ   +4 more
core  

Congenital Milium of the Nipple [PDF]

, 2016
A 12-month-old girl presented with an asymptomatic, pearly nodule on the left nipple that had been present from birth and was currently 3 mm in diameter and growing.
Ferreira, MG, Salgado, MB
core   +2 more sources

Idiopathic calcinosis cutis of the scrotum: a case report and review of the literature

Journal of Medical Case Reports, 2018
Background Abnormal deposition of calcium in the skin or subcutaneous tissue is termed calcinosis cutis. Idiopathic calcinosis cutis of the scrotum is an uncommon entity. The pathogenesis of idiopathic calcinosis cutis of the scrotum is debatable.
M. M. Aarif Syed, Aasiya Rajbhandari, Upama Paudel   +2 more
doaj   +1 more source

MR imaging findings of calcinosis cutis in primary Sjogren syndrome, a rare manifestation

Radiology Case Reports, 2020
Soft tissue calcifications associated with various connective tissue diseases such as dermatomyositis and scleroderma have been well documented Plaque-like sheets of subcutaneous calcifications presenting as an indurated soft tissue mass in a patient ...
Paul L. Wasserman, DO, MHCM, Carissa Wiesler, MD, Chandana Kurra, MD, Reeba Omman, MD, Kristin Taylor, MD, Ruchir Puri, MD   +5 more
doaj   +1 more source