Results 61 to 70 of about 2,720 (173)

Reed’s Syndrome: A Rare Systemic Genodermatosis

Gazeta Médica, 2023
Reed’s syndrome is an autosomal dominant rare genodermatosis, characterized by the presence of multiple cutaneous and uterine leiomyomatosis. This syndrome can be associated with renal cell carcinoma and leiomyosarcoma.
Madalena Braga, Leonor Ferreira da Silva, Nuno Mendanha Pereira, Gustavo Fernandes, Miguel Magalhães   +4 more
doaj  

Uso de la apidermocosmética en pacientes con algunas genodermatosis

Medisan
Introducción: En algunas enfermedades como las genodermatosis que cursan con ampollas y trastornos de la queratinización, la estructura de la piel está dañada de forma permanente.
Yordania Velázquez Avila, Alejandro Bernardo Cervantes Palomino, Claudio Tirabasso Bier   +2 more
doaj  

Mal de Meleda: A Report of Two Cases In One Family [PDF]

Medicinski Glasnik, 2006
Mal de Meleda is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma, lichenoid skin lesions, perioral erythema, brachydactyly and nail abnormalities.
M.Kantor, E. Kasumagić-Halilović, A. Prohić   +2 more
doaj  

[Lamellar ichthyosis, uncommon genodermatosis].

Ginekologia polska, 1994
Authors have performed the main types of the ichthyosis, the emphasis has been placed on Lamellar Ichthyosis, because the case of this rare disease occurred in a hospital in Pleszew. The paper contains the case report and detailed description of Lamellar Ichthyosis: clinical signs, prenatal diagnosis and treatment.
J, Rataj, M, Kornacka, A, Mościcka
openaire   +1 more source

A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stüve-Wiedemann syndrome

JAAD Case Reports, 2023
Nouf Almuhanna, MD, Lulwa Alogayell, MD, Sarah Alkhezzi, MD, Salman Al-Malki, MD, Rasha Alhamazani, MD, Fatimah Altassan, MD, Alanoud Alsuhibani, MD, Yazeed Alowairdhi, MD, Khalid Alekrish, MD, Faris A. Alhomida, MD   +9 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
Background Porokeratoses represent a group of keratinization disorders characterized histopathologically by the presence of a cornoid lamella. The recognition of porokeratosis as a genodermatosis, along with its association with increased risk of skin ...
Rahime Inci, Noora Neittaanmäki, Jeemol James, Marica B. Ericson, Sirkku Peltonen, Despoina Kantere   +5 more
doaj   +1 more source

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation

JAAD Case Reports, 2021
Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD   +5 more
doaj   +1 more source

Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?

Acta Dermato-Venereologica
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) or with migratory circinate erythema (EBS-MCE) are rare clinical subtypes, typically associated with KRT5 pathogenic variants. A clinical and molecular analysis was conducted on 49 patients
Laura E. Valinotto, Mónica Natale, Silvina B. Lusso, Luz Velazquez Perdomo, Agustín Izquierdo, Romina Andrada, Eliana Cella, Juana Goitia, Maria del Carmen Boente, Maria I. Prado, Silvina de Freijo, Graciela Manzur   +11 more
doaj   +1 more source

Genodermatosis [PDF]

, 2020
openaire   +1 more source

Rare Homozygous CTSC Deletion in Siblings with Papillon-Lefevre Syndrome: A Case Report

BioMed Target Journal
Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive genodermatosis caused by mutations in the cathepsin C (CTSC) gene. It is characterized by palmoplantar keratoderma (PPK), periodontopathy, intracranial calcifications, and recurrent
Fatima AlQaydi, Mohamed Ahmed
doaj   +1 more source