Results 41 to 50 of about 10,708 (219)

Atopic Dermatitis Host and Environment Model: Revisiting Therapeutic Options [PDF]

, 2020
Atopic Dermatitis affects both children and adults and is a serious health concern in many countries. AD is a complex disease with host and environmental factors underlying its pathology. Its treatment is multidimensional reflecting the diverse nature of
Abreu, C, Lopes, A, Lopes, C, Sokolova, A   +3 more
core   +1 more source

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]

, 2019
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK, Chen, L, Lederhandler, M, Meehan, SA, Neimann, A   +4 more
core  

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, EarlyView.
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

Late onset epidermal nevus with hypertrichosis and facial hemihypertrophy

Indian Journal of Dermatology, 2014
Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations.
M Saritha, Laxmisha Chandrashekar, Devinder Mohan Thappa, A Ramesh, Debdatta Basu   +4 more
doaj   +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, EarlyView.
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

H syndrome presenting as juvenile diabetes: an underdiagnosed entity

Journal of Diabetology, 2020
H syndrome is a rare recessively inherited histiocytosis resulting from mutations in the SLC29A3 gene which encodes the human equilibrative nucleoside transporter 3 (hENT3).This multisystem disorder can have myriad of presentations ,with skin lesions ...
Kingini Bhadran, Manjunath P. Ramakrishna, Nisha Bhavani, Praveen V Pavithran   +3 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Novel Insights into the Bovine Polled Phenotype and Horn Ontogenesis in Bovidae [PDF]

, 2013
Despite massive research efforts, the molecular etiology of bovine polledness and the developmental pathways involved in horn ontogenesis are still poorly understood.
Allais-Bonnet, Aurélie, Barbey, Sarah, Baur, Aurélia, Bernard-Capel, Carine, Blum, Helmut, Boichard, Didier, Bouet, Stéphan, Boussaha, Mekki, Capitan, Aurélien, Catros, Olivier, Clément, Laetitia, Cobo, Emilie, Djari, Anis, Dozias, Dominique, Eggen, André, Elín Hreiðarsdóttir, Gunnfríður, Esquerré, Diane, Fouchet, Michel, Fouilloux, Marie-Noëlle, Fritz, Sébastien, Gallard, Yves, Graf, Alexander, Grohs, Cécile, Hoze, Chris, Journaux, Laurent, Klopp, Christophe, Krebs, Stefan, Le Bourhis, Daniel, Marchand, Jean-Luc, Marquant-Leguienne, Brigitte, Medugorac, Ivica, Pailhoux, Eric, Pannetier, Maëlle, Phocas, Florence, Ponsart, Claire, Reverse, Patrick, Rocha, Dominique, Rossignol, Marie-Noëlle, Rothammer, Sophie, Roy, Pierre, Russ, Ingolf, Salas-Cortes, Laura, Seichter, Doris, Soulas, Pascal, Thépot, Dominique, van Marle-Köster, Este, Venot, Eric, Wahlberg, Per, Weiss, Bernard   +48 more
core   +10 more sources

Minoxidil induced hypertrichosis in children

The Pan African Medical Journal, 2014
Minoxidil is a strong arterial vasodilator used in the treatment of hypertension. In dermatology, topic minoxidil is widely used to treat hair fall. Hypertrichosis may occur if this form is misused.
Najwa Guerouaz, Ait Ourhroui Mohamed
doaj   +1 more source

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

Prenatal Diagnosis, EarlyView.
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