Results 11 to 20 of about 766 (133)

An unusual case of keratinopathic icthyosis: a diagnostic conundrum. [PDF]

open access: yesDermatology Online Journal, 2021
Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ...
C. Shajil   +3 more
semanticscholar   +5 more sources

Case of Icthyosis [PDF]

open access: yesBoston Medical and Surgical Journal
n ...
J. Banks
exaly   +4 more sources

A clinicoepidemilogical study on icthyosis in a district hospital

open access: yesJournal of Pakistan Association of Dermatologists, 2023
Objective To study the demography and clinical spectrum of icthyosis in children below twelve years of age.   Methods A prospective randomized hospital based study was conducted between June 2013 and June 2015 in a district hospital in North India.
N. Puri
semanticscholar   +2 more sources

X-linked icthyosis. A sulphatase deficiency. [PDF]

open access: yesArchives of Disease in Childhood, 1978
In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity.
A C Jöbsis
exaly   +4 more sources

Harlequin Icthyosis: A Rare Disorder

open access: yesIndian Journal of Case Reports, 2016
Harlequin ichthyosis (HI) is the rarest and the most severe form of congenital ichthyosis. It is inherited in an autosomal recessive manner and associated with mutations in gene ABCA12.
Sharmila Ramteke   +2 more
semanticscholar   +3 more sources

Lamellar Icthyosis: A Clinical Dilemma

open access: yesAsian 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.
Amar Verma, R. Manisha, R. Narayan
semanticscholar   +3 more sources

Harlequin fetus – Icthyosis fetalis: Case report [PDF]

open access: yes, 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.
S. Sereke, S. Berhe, F. Bongomin
semanticscholar   +2 more sources

Use of Bronchoalveolar Lavage to Demonstrate Squamous Epithelial Aspiration in Congenital Icthyosis: A Case Report [PDF]

open access: yesJournal of Perinatology, 2000
Use of Bronchoalveolar Lavage to Demonstrate Squamous Epithelial Aspiration in Congenital Icthyosis: A Case ...
David J Birnkrant
exaly   +4 more sources

Icthyosis Uteri with in Situ CarcinomaReport of 2 Cases

open access: yesAnnals of Pathology and Laboratory Medicine, 2018
Icthyosis uteri is a rare condition in which entire surface of the endometrium is replaced by stratified squamous epithelium. Two cases of Icthyosis uteri are reported for their rarity.
A. Pathan   +2 more
semanticscholar   +3 more sources

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