Results 21 to 30 of about 888 (167)
Sjogren-Larsson syndrome: A case report of a rare disease
Indian Dermatology Online Journal, 2011 We report a case of Sjogren-Larsson syndrome with clinical profile (spastic diplegia, icthyosis, mental retardation) and imaging findings on magnetic resonance imaging.
S P Gupta +3 more
doaj +1 more source
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]
, 2012 Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M +12 more
core +1 more source
Harlequin fetus – Icthyosis fetalis: Case report [PDF]
, 2021 We are presenting a newborn with a very rare and most severe form of congenital ichthyosis that is characterized by a thick, heavily keratinized and scaly skin.
Senai Sereke +2 more
openaire +1 more source
Miscellanea. Folyóirat-referátumok. Könyvismertetés [PDF]
, 2016 Addiktológia. Új HIV-esetek Magyarországon az injekciós droghasználók körében: Téves riasztás vagy korai figyelmeztetés? (New cases of HIV among people who inject drugs in Hungary: False alarm or early warning?) Rácz, J., Gyarmathy, V. A.,
Apor, Péter +5 more
core +1 more source
Lamellar Icthyosis: A Clinical Dilemma
Asian Journal of Clinical Pediatrics and Neonatology, 2018 Congenital Autosomal recessive ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems. This case report presents involvement of respiratory system and its management with outcome in a rather uncommon presentation of lamellar icthyosis.
Amar Verma, Rani Manisha, R. K. Narayan
openaire +2 more sources
Unilateral megalocornea associated with Fuchs' heterochromic iridocyclitis
TNOA Journal of Ophthalmic Science and Research, 2019 Fuchs' heterochromic iridocyclitis is an atypical form of chronic nongranulomatous anterior uveitis and is almost always unilateral. It presents with cataract, mild anterior chamber reaction, diffuse stellate keratic precipitates, absence of posterior ...
Muthukrishnan Vallinayagam +3 more
doaj +1 more source
, 2011 O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de +4 more
core +3 more sources
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder
Indian Dermatology Online Journal, 2012 Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face
Vinay Shanker +2 more
doaj +1 more source
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. [PDF]
, 2014 To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of
Benediktsdottir, Kristrun R +34 more
core +1 more source
An interesting case of neurocutaneous syndrome [PDF]
, 2023 Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about
Kedlaya, Shraddha K. +3 more
core +2 more sources