Results 11 to 20 of about 6,657 (132)

Pigmented neurofibroma with hypertrichosis

Boletín Médico del Hospital Infantil de México, 2023
Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In addition, the association of PN with hypertrichosis is infrequent.We describe the case of an 8-year-old male with a neurofibromatosis type 1 (NF1) diagnosis, who presented a light brown ...
Juan A. Godínez-Chaparro, Adriana M. Valencia-Herrera, Carlos A. Mena-Cedillos, Sonia Toussaint-Caire, Mario R. Duarte-Abdala, Omar Loza-Escutia, Mirna E. Toledo-Bahena   +6 more
openaire   +3 more sources

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

French guidelines on systemic treatments for moderate‐to‐severe psoriasis in adults: Update 2025

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 6, Page 963-979, June 2026.
New 2025 French guidelines update psoriasis management with revised algorithms integrating recent systemic therapies. They recommend methotrexate, adalimumab or ustekinumab as first‐line treatments and provide guidance for special psoriasis forms, comorbidities, pregnancy and long‐term management.
Marie Masson Regnault, Emilie Brenaut, Marie‐Emeline Marniquet, Carla Berthault, Lea Canoen, Clarisse Marcombes, Audrey Melin, Raphaël Ouakrat, Julie Charles, Stephane Mouret, Olivier Potie, Laetitia Penso, Laura Pina Vegas, Guillaume Larid, Marine Roux, Colombe Bougeard, Sandy Sylvain, Clara Labonne, Tania Randriamiarana, Da Hee Pitaud, Floriane Etheve, Jeremy Gottlieb, Laurie Gouillon, Marine Chastagner, Emilie Sbidian, Hélène Aubert, on behalf of the Psoriasis Research Group of the French Society of Dermatology (Groupe de Recherche sur le Psoriasis de la Société Française de Dermatologie), Hélène Aubert, Marie Masson Regnault, Emilie Brenaut, Emilie Sbidian, Laura Pina Vegas, Laetitia Penso, Jeremy Gottlieb, Marine Roux, Clara Labonne, Tania Randriamiarana, Floriane Etheve, Da Hee Pitaud, Marie‐Emeline Marniquet, Carla Berthault, Clarisse Marcombes, Audrey Melin, Colombe Bougeard, Julie Charles, Olivier Potie, Léa Canoen, Laurie Gouillon, Marine Chastagner, Sandy Sylvain, Guillaume Larid, Raphaël Ouakrat   +51 more
wiley   +1 more source

Advances in the Treatment of Androgenetic Alopecia: A Review of Mechanisms and the Clinical Efficacy of Combination Drug Therapy

Journal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.
ABSTRACT Background Androgenetic alopecia (AGA) is the most prevalent type of hair loss, exerting a significant negative impact on patients' quality of life. The limited efficacy, potential adverse effects, and poor patient adherence of single‐agent therapies highlight substantial unmet needs in clinical management.
Zhuhao Lai, Yi Zhou, Rui Zhou
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1062-1068, May 2026.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Efficacy and Safety of Fractional Laser Therapy for Androgenetic Alopecia: A Systematic Review and Meta‐Analysis

Journal of Cosmetic Dermatology, Volume 25, Issue 5, May 2026.
ABSTRACT Objective To systematically evaluate the efficacy and safety of fractional laser therapy in the treatment of androgenetic alopecia. Methods A comprehensive literature search was conducted in PubMed, Web of Science, Embase, the Cochrane Library, and China National Knowledge Infrastructure (CNKI) from inception to November 2025. Eligible studies
Cheng Chen, Shuangshuang Wang, Dezhao Bi, Ang Ching Wei, Shun Guo   +4 more
wiley   +1 more source

The Histone‐Lysine N‐Methyltransferase (KMT2) Family in Health and Disease

MedComm, Volume 7, Issue 4, April 2026.
This graphical abstract clarifies KMT2 family dysregulation and disease associations: its member mutations cause epigenetic imbalance and abnormal cell development; Menin/WDR5 inhibitors and other targeted therapies block aberrant epigenetic transcriptional programs, and combined synergistic therapies boost therapeutic efficacy.
Qiu Wang, Zunjie Bo, Ya Zhang, Yun Chen, Zhiyu Wang, Shuangmei Tong, Ajing Xu, Jian Zhang, Yan Liu   +8 more
wiley   +1 more source

Managing Skin Side Effects Associated With Oncology Treatments: Asian Perspective on Use of Dermocosmetics

Asia-Pacific Journal of Clinical Oncology, Volume 22, Issue 2, Page 186-198, April 2026.
Skin adverse events (AEs) frequently accompany all types of anticancer treatments. This publication discusses how recent international guidance on best‐practices use of dermocosmetics can be adapted to the North Asia region (China, Hong Kong, Japan, Republic of Korea, and Taiwan).
Meng Pan, Jianguo Sun, Makoto Kawashima, You Chan Kim, Mison Chun, Chia‐Yu Chu, Yi‐Hsin Liang, Mee Chang, Delphine Kerob, Brigitte Dreno   +9 more
wiley   +1 more source