Results 1 to 10 of about 4,843 (250)

Ictiosis arlequín, una genodermatosis devastadora

Repertorio de Medicina y Cirugía, 2018
La ictiosis arlequín es la forma más grave y agresiva de las ictiosis congénitas. Es una rara entidad hereditaria, de patrón autosómico recesivo y su pronóstico es fatal en la mayoría de los casos; los neonatos por lo general mueren en los primeros días ...
Felisa B Carvajalino, Laura F Peña
doaj   +3 more sources

Pachyonychia congenita: A rare genodermatosis

Indian Dermatology Online Journal, 2013
Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female
Puneet Agarwal, Mahendra K Chhaperwal, Apurva Singh, Arvind Verma, Manisha Nijhawan, Kishore Singh, Dinesh Mathur   +6 more
doaj   +4 more sources

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Diagnostics, 2022
Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
exaly   +5 more sources

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   +4 more sources

Incontinentia pigmenti: genodermatosis multisistémica [PDF]

Boletín Médico Del Hospital Infantil De México, 2020
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...
Maria Teresa Garcia-Romero
exaly   +2 more sources

A Rare Genodermatosis: Lipoid Proteinosis

Cerrahpaşa Medical Journal, 2021
Lipoid proteinosis is a rare genodermatosis that manifests with hoarseness and cutaneous findings. Its skin manifestations start with vesicles during the neonatal period, later scar formation and lichenification are observed. Beaded papules on the eyelids, which is referred to as “moniliform bleapharosis” is a typical finding.
Tozakoğlu, Batuhan, Kutlubay, Zekayi, Özkoca, Defne, Uzunçakmak, Tuğba Kevser   +3 more
openaire   +3 more sources

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

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   +2 more sources

Bloch-Sulzberger syndrome: a rare genodermatosis

International Journal of Contemporary Pediatrics, 2023
A 6 month old female child was admitted with complaints of delayed developmental milestones and multiple hyperpigmented patches on the trunk, limbs, axilla and groin. At birth the baby had diffuse vesciculo-bullous rash. Currently the child has global developmental delay with seizures with investigations suggesting the same.
Naviya Mary Thomas
openaire   +3 more sources

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in DST gene: first Italian case and literature review [PDF]

Dermatology Reports
Epidermolysis bullosa simplex (EBS), the most common type of EB, is characterized by skin fragility and blister formation within the basal epidermal layer. Most cases are due to autosomal dominant mutations in the keratin genes, KRT5 and KRT14. However,
Andrea Diociaiuti, Ruggiero Davide Zingarelli, Dario Francesco D'Urso, Giovanna Zambruno, May El Hachem   +4 more
doaj   +2 more sources

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +2 more sources