Results 31 to 40 of about 18,146 (216)

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

BMC Medical Genomics, 2022
Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms.
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer   +8 more
doaj   +1 more source

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2020
Ichthyoses are a heterogeneous disease group, which makes clinical classification challenging. An ichthyosis cohort at a center for genodermatoses is presented in detail.
Magdalena Seidl-Philipp, Ulrich A. Schatz, Irina Gasslitter, V. Moosbrugger-Martinz, S. Blunder, A. Schossig, J. Zschocke, M. Schmuth, R. Gruber   +8 more
semanticscholar   +1 more source

Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis

, 2020
For a quarter of the century, tremendous advances have been achieved in our understanding of the pathogenic mechanisms and relevant genetic defects underlying ichthyoses and ichthyosis syndromes.
M. Akiyama
semanticscholar   +1 more source

Lamellar ichthyosis

Dermatology Online Journal, 2005
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
openaire   +4 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +2 more sources

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

Journal of Medical Case Reports, 2017
Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid   +7 more
doaj   +1 more source

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Medeniyet Medical Journal, 2022
Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date.
Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI   +4 more
doaj   +1 more source

Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis – A Retrospective Chart Review of 107 Patients

Indian Journal of Dermatology
Background: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan, Shirin Bakshi, Debajyoti Chatterjee, Dipankar De, Uma N. Saikia, Sanjeev Handa   +5 more
doaj   +1 more source

A unique case of a digital tourniquet in ichthyosis vulgaris

JPRAS Open, 2020
We report a unique case of a digital tourniquet in a patient with ichthyosis vulgaris. We have identified no previous case reports documenting the occurrence of a digital tourniquet in patients caused by this condition.
L.F. McClymont, M. Ng
doaj   +1 more source

Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj   +1 more source