Results 1 to 10 of about 2,708 (203)
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
exaly +5 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 +3 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 +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 ...
Adrián Martínez-Gayosso +1 more
openalex +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/
Shoaib Bhatti +5 more
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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.
Defne Özkoca +3 more
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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 +3 more
exaly +4 more sources
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
doaj +2 more sources
Delayed diagnosis of a scaling genodermatosis [PDF]
BMJ Case Reports, 2023 Clare Harnett +2 more
openalex +3 more sources