Results 61 to 70 of about 4,625 (171)

Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype

Indian Journal of Dermatology, 2019
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma   +5 more
doaj   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Management of Hypotrichosis of the Eyelashes

Plastic Surgical Nursing, 2010
Prominent eyelashes are generally recognized as enhancing beauty and are often desired by women. Until recently, the options available to augment the prominence of eyelashes were limited to makeup, over-the-counter products, artificial eyelashes, and eyelash transplantation.
openaire   +5 more sources

Clinical and Genetic Studies of Hypotrichosis in District Pakpattan, Punjab, Pakistan

Journal of Bioresource Management
Hypotrichosis is a hereditary hair development condition that results in thin or little hair on the head and other regions of the body due to diminished or non-existent hair growth.
Amir Anees, Muhammad Abdullah, Khawar Hayyat, Muhammad Irshad, Muhammad Iqbal Usama, Muhammad Saleem Khan, Muhammad Rizwan, Muhammad Wajid   +7 more
doaj  

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi, Vaishali Keluskar, Anjana Bagewadi   +2 more
doaj  

From Eye Care to Hair Growth: Bimatoprost

Pharmaceuticals
Background: Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and beyond.
Marco Zeppieri, Caterina Gagliano, Leopoldo Spadea, Carlo Salati, Ekele Caleb Chukwuyem, Ehimare Samuel Enaholo, Fabiana D’Esposito, Mutali Musa   +7 more
doaj   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Congenital Ciliary Hypotrichosis [PDF]

Ophthalmologica, 2010
R P, SARDA, H, CHARAN, P N, NAGPAUL
openaire   +2 more sources

Christ — Siemens — Touraine syndrome (ectodermal anhydrone dysplasia) [PDF]

Саратовский научно-медицинский журнал, 2011
The article is concerned with observation of a child of 3,5 with hereditary Krista — Seimens — Turena syndrome.
Kuznetsova М.А., Karalskaya J.J.
doaj  

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

American Journal of Ophthalmology Case Reports, 2019
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history.
Kenneth C. Fan, Nimesh A. Patel, Nicolas A. Yannuzzi, Supalert Prakhunhungsit, Catherin I. Negron, Elisa Basora, Andrew A. Colin, Mustafa Tekin, Audina M. Berrocal   +8 more
doaj   +1 more source