Results 11 to 20 of about 2,720 (173)

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   +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

Netherton syndrome: A rare genodermatosis

Indian Dermatology Online Journal, 2011
Vivek Kumar Dey
doaj   +3 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   +2 more sources

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant [PDF]

Acta Dermato-Venereologica
Andrea Diociaiuti, Emanuele Bellacchio, Claudia Cesario, Sabrina Rossi, Giovanna Zambruno, May El Hachem   +5 more
doaj   +2 more sources

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Life, 2021
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma.
Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz   +13 more
doaj   +1 more source

Erythrokeratoderma variabilis in two cases with localized and generalized lesions [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2020
Erythrokeratoderma variabilis is an autosomal dominant genodermatosis characterized by fixed, brownish hyperkeratotic plaques and migratuar erythematous patches.
Hülya Nazik, Mehmet Enes Güner, Perihan Öztürk, Mehmet Kamil Mülayim, Mine Müjde Kuş   +4 more
doaj   +1 more source

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   +1 more source

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 ...
Adrián Martínez-Gayosso, María T. García-Romero   +1 more
openaire   +1 more source

Severe Hypernatremia as Presentation of Netherton Syndrome

Global Medical Genetics, 2023
Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies.
A. Di Nora, M.C. Consentino, G. Messina, T. Timpanaro, P. Smilari, P. Pavone   +5 more
doaj   +1 more source