Results 11 to 20 of about 3,504 (191)

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

Netherton syndrome: A rare genodermatosis

Indian Dermatology Online Journal, 2011
Vivek Kumar Dey
doaj   +5 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   +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
doaj   +2 more sources

The H Syndrome: A Genodermatosis [PDF]

Cureus, 2018
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/
Bhatti, Sohaib, Jamil, Asma, Siddiqui, Samrah Hasan, Yaqoob, Uzair, Virk, Luqman Naseer, Bhatti, Areesh   +5 more
openaire   +4 more sources

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   +4 more sources

Darier disease: A rare genodermatosis

Journal of Oral and Maxillofacial Pathology, 2017
Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2.
Suryawanshi, Hema, Dhobley, Akshay, Sharma, Aparna, Kumar, Pramod   +3 more
openaire   +4 more sources

Human Leukocyte Antigen in Genodermatosis

International Journal of Dermatology, 1984
ABSTRACT: Tissue typing performed on the lymphocytes of 41 Patients, including: 23 patients with ichthyosis (15 of autosomal dominant and 8 of the x‐linded variety; 8 patients with tuberous sclerosis (epiloia); and 10 patients with acroder‐matitis enteropathica (AEP).
M, Amer, N, Afifi, I, Iskander, N, Diab
openaire   +3 more sources

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   +3 more sources

KID syndrome: A rare genodermatosis

Indian Dermatology Online Journal, 2020
Vivek Kumar Dey, Animesh Saxena, Shrini Parikh   +2 more
doaj   +3 more sources