Results 31 to 40 of about 1,970 (171)
Clinical Case Reports, 2021 Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms.
Miwako Toyohara +12 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková +8 more
wiley +1 more source
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
WHO classification of skin tumours: key updates in the fifth edition
Histopathology, Volume 88, Issue 3, Page 555-568, February 2026.This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy +29 more
wiley +1 more source
Incontinentia pigmenti: case report and 5-year follow-up
Acta Odontologica Turcica, 2017 Introduction: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) is a disease of organ involvement with ectodermic and mesodermic origin, showing dominant transition based on the X-chromosome. It affects the skin, eyes, teeth, and central nervous system.
Ayşegül Sarı, Salih Çelik
doaj +1 more source
Food Risk Assess Europe, Volume 4, Issue 1, January 2026.Summary Acrylamide is a natural by‐product of the reaction that occurs during the baking or frying food at temperatures above 120°C in industry and in households. The main mechanism of acrylamide formation in food is the Maillard reaction, in which the free amino acid asparagine, which is found in many types of cereals and potatoes, reacts with ...
Danijela Stražanac +6 more
wiley +1 more source
Incontinencia pigmenti con defecto en la inmunidad celular
Boletín Médico del Hospital Infantil de México, 2015 Introducción: La incontinencia pigmenti es una enfermedad genética rara ligada al cromosoma X, letal en el varón, que afecta a todos los tejidos derivados del ectodermo, como piel, faneras, ojos, dientes y sistema nervioso central, y presenta ...
Antonio Zamora-Chávez +5 more
doaj +1 more source
Incontinentia Pigmenti In A Male Infant: A Case Report
Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene.
Arifiana Wungu Kartika Dewi +5 more
doaj +1 more source
Experimental Dermatology, Volume 34, Issue 12, December 2025.ABSTRACT Discoid lupus erythematosus (DLE) is the most common variant of cutaneous lupus. Histopathology remains the gold standard for diagnosis, but it carries a risk of scarring in a disease already prone to cicatricial outcomes. Additionally, diagnostic delays may occur due to variable processing times, particularly in challenging cases.
Vincenzo Maione +8 more
wiley +1 more source