Results 1 to 10 of about 4,685 (212)
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 +6 more
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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
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Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum? [PDF]
Acta Dermato-VenereologicaEpidermolysis 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 +11 more
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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
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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 +4 more
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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
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KID syndrome: A rare genodermatosis
Indian Dermatology Online Journal, 2020 Vivek Kumar Dey +2 more
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Urbach-Wiethe syndrome: report of two clinical cases [PDF]
Dermatology ReportsUrbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications.
Ilaria Demofonte +3 more
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Netherton syndrome: A rare genodermatosis
Indian Dermatology Online Journal, 2011 Vivek Kumar Dey
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