Results 41 to 50 of about 482 (157)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS: A CLINICAL CASE REPORT

Медицинский вестник Юга России, 2014
We present a case of superficial disseminated actinic porokeratosis in a 56-year-old male patient. Clinical and laboratory criteria of the disease and approaches to its treatment are discussed in the article.
L. A. Anisimova, O. A. Sidorenko, V. V. Starostenko   +2 more
doaj   +1 more source

Applicability of Novel Laser Scanning Microscopy Techniques in Demonstrating Characteristic Features of Porokeratosis: In Vivo and Ex Vivo Investigation

JEADV Clinical Practice, Volume 5, Issue 1, Page 91-100, March 2026.
Porokeratoses, used here as an example of keratinization disorders, are marked by cornoid lamella and linked to skin cancer risk, making accurate diagnosis essential. This study compared conventional methods, dermoscopy, and histopathology, with advanced imaging using reflectance confocal microscopy (RCM) and multiphoton microscopy (MPM).
Rahime Inci, Noora Neittaanmäki, Jeemol James, Marica B. Ericson, Sirkku Peltonen, Despoina Kantere   +5 more
wiley   +1 more source

The role of dermatoscopy in diagnostics superficial disseminated actinic po-rokeratosis [PDF]

Саратовский научно-медицинский журнал, 2017
We present a case of disseminated superficial actinic porokeratosis and describe general dermoscopic features.
Sherstobitova K.Y., Utz S.R., Shnaider D.A.   +2 more
doaj  

Disseminated superficial actinic porokeratosis

International Journal of Advances in Medicine, 2015
Disseminated Superficial Actinic Porokeratosis (DSAP) is a type of porokeratosis observed in parts of the skin exposed to intense sunlight and usually appears in the third or fourth decade of life. We are presenting a case report of a 30 year old male patient presenting with multiple lesions over the face and limbs.
K Dhillon, Deepak Sharma, Tarunveer Singh, Sweksha Srivasatva, Ritika Srivastava, Areeba Khan, Soni Yadav, Vidhi Agarwal   +7 more
openaire   +2 more sources

Topical Cholesterol and Statin Therapy for Porokeratosis: A Systematic Review and Exploratory Meta‐Analysis

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Background Porokeratosis comprises a group of clinically diverse keratinization disorders unified by the cornoid lamella and increasingly understood through alterations in the mevalonate/cholesterol biosynthesis pathway, including germline variants, somatic second‐hit events, clonal mosaicism, and emerging epigenetic mechanisms.
Maryam Sajjad, Leena Alotaibi, Ahmed N. Alqefari, Norah Aljabr, Ahad Abdulaziz Alruhaymi, Turki Saeed Alkahtani, Ahmed Ayed N. Alanazi, Naif Abed Alshamari, Aliyah Abdulmohsen Alabdulqader, Alanoud Abdullah Al Daej, Nawal Hussain Hibili, Zain Abbara, Elissa Nassif   +12 more
wiley   +1 more source

Three-dimensional aspects of superficial disseminated porokeratosis with scanning electron microscopy [PDF]

Anais Brasileiros de Dermatologia, 2014
The three-dimensional findings of the surface and from a cross section from a case of disseminated superficial porokeratois using scanning electron microscopy are reported. On the surface of the skin, irregular keratin with a serpiginous distribution was
Hiram Larangeira de Almeida Jr., Luciana Boff de Abreu, Greice Rampon, Ricardo Marques e Silva, Nara Moreira Rocha   +4 more
doaj   +1 more source

Efficacy and Safety of Topical Statin Therapy for Porokeratosis: A Systematic Review and Meta‐Analysis

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Background and Objective Porokeratosis comprises a heterogeneous group of keratinization disorders with malignant transformation potential. While multiple therapeutic options exist, clinical outcomes remain suboptimal. Emerging evidence suggests promising efficacy of topical statin therapy, though systematic evaluation is currently lacking.
Xingyu Li, Yue Hu, Jie Liu, Suraiya Saleem   +3 more
wiley   +1 more source

A Case of Linear Porokeratosis Superimposed on Disseminated Superficial Actinic Porokeratosis

Case Reports in Dermatology, 2010
We present a female patient with linear porokeratosis of her right arm since childhood. At the age of 67 years she additionally developed disseminated superficial actinic porokeratosis (DSAP) involving both lower legs.
Rebecca Löhrer, Aysegül Neumann-Acikel, Rüdiger Eming, Karin Hartmann, Heinrich Rasokat, Thomas Krieg, Rudolf Happle, Sabine Eming   +7 more
doaj   +1 more source

Genetic Testing in Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.
ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley   +1 more source