Results 241 to 250 of about 517,181 (258)

Quality of life in adults with congenital ichthyosis

Journal of Advanced Nursing, 2003
Background.  Little is known about the quality of life of people with congenital and generalized skin diseases. Describing life history and quality of life from an individual perspective could increase understanding of living with generalized congenital ichthyosis for nursing staff and others.Aim.  The aim of our study was to illustrate how middle‐aged
Magnus Lindberg, Per-Olow Sjödén, Christina Lindholm, Anders Vahlquist, Agneta Gånemo   +4 more
openaire   +3 more sources

Ichthyosis Congenital Fetalis (Harlequin Fetus)

International Journal of Dermatology, 1982
A male fetus which was the product of full-term pregnancy and normal delivery with no family history is presented. The skin was hard and thick, waxy, yellowish in color, and was crossed by horizontal and or perpendicular red fissures. The eyelids were semiclosed, hard, and stiff resulting in ectropion and the conjunctivae were red.
Constantine Kouskoukis, Aristippos Minas, Dimitrios Tousimis   +2 more
openaire   +3 more sources

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab

Pediatric dermatology, 2019
Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated ...
C. Poulton, D. Gration, K. Murray, Gareth Baynam, A. Halbert   +4 more
semanticscholar   +1 more source

The tay syndrome (congenital ichthyosis with trichothiodystrophy)

European Journal of Pediatrics, 1984
We report a 5-year-old boy affected with the Tay syndrome, and give a review of 12 pertinent cases previously reported under various designations. The Tay syndrome is a distinct type of congenital ichthyosis characterized by a peculiar anomaly of hair growth which has been termed trichothiodystrophy. The hair shafts are extremely brittle, and they show
Rudolf Happle, H Traupe, G Bonsmann, H. Gröbe   +3 more
openaire   +3 more sources

Congenital Ichthyosis and Neonatal Pulmonary Disease

Pediatrics, 1974
An atypical pulmonary aspiration syndrome occurred in two prematurely born siblings with congenital ichthyosis; pneumothorax and pneumomediastinum were seen in a third neonate with less severe ichthyosis. These pulmonary manifestations were probably complications of aspiration of amniotic fluid containing abnormally high concentrations of epithelial ...
M, Perlman, J, Bar-Ziv
openaire   +2 more sources

A founder DBR1 variant causes a lethal form of congenital ichthyosis

Human Genetics, 2023
H. Shamseldin, M. Sadagopan, Javier Martini, Ruslan Al-Ali, Mandy Radefeldt, Mojgan Ataei, Sabrina Lemke, Z. Rahbeeni, F. Al Mutairi, F. Ababneh, H. Alrukban, F. Abdulwahab, Saleh Mohammed Nasser Alhajj, P. Bauer, A. Bertoli-Avella, F. Alkuraya   +15 more
semanticscholar   +1 more source

The pathogenesis of severe congenital ichthyosis of the neonate

Journal of Dermatological Science, 1999
Severe congenital ichthyosis of the neonate include several major subtypes, i.e. harlequin ichthyosis, lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma. Knowledge of the pathogenetic mechanisms is significant for the precise diagnosis, treatment, genetic counseling and prenatal diagnosis.
openaire   +2 more sources

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2019
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of nonsyndromic ichthyoses [ 1, 2 ] . The clinical presentation and severity ranges from harlequin ichthyosis to lamellar ichthyosis and congenital ...
Magdalena Seidl-Philipp, A. Schossig, V. Moosbrugger-Martinz, J. Zschocke, M. Schmuth, R. Gruber   +5 more
semanticscholar   +1 more source

CONGENITAL ICHTHYOSIS: CONCURRENT IMMUNODEEICIENCY AND ATYPICAL T CELLS

International Journal of Dermatology, 1979
ABSTRACT: A patient with Congenital ichthyosis and progressive anomalies showed disturbances in the specific humoral and cellular defense as well as the presemce of atypical lymphoid cells in skin and lymph node. The latter resembled the atypical T cells found in mycosis fungoides and Sézary syndrome.
L. Delden, J. W. Stoop, B. J. M. Zegers, G. F. M. Hendrickx   +3 more
openaire   +3 more sources

Congenital ichthyosis

The American Journal of Surgery, 1951
H P, LATTUADA, M S, PARKER
openaire   +2 more sources