Results 181 to 190 of about 6,529 (236)

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review. [PDF]

Clin Exp Pediatr
Ghosh U, Agrawal A, Srinivasan VM, Manisha R, Shukla U, Jain V, Nilay M, Kumar H.   +7 more
europepmc   +1 more source

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +1 more source

Lamellar ichthyosis - An update.

Indian journal of dermatology, venereology and leprology, 2012
openaire   +1 more source

A case of lamellar ichthyosis.

Indian journal of dermatology, 1977
openaire   +1 more source

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Lamellar Ichthyosis

JAMA Dermatology, 2023
This case report describes a patient in her 30s who was born with ichthyosis who presented with plate-like scale that covered her whole body as well as ectropion.
Yi-Cheng, Wu, Qiang, Yao
openaire   +3 more sources

ICHTHYOSIS–LAMELLAR EXFOLIATIVE TYPE

International Journal of Dermatology, 1963
Summary and ConclusionsNine cases (six males and three females) of ichthyosis of the lamellar exfoliative type occurred among 22 offspring in three related families of German origin. All six parents have a common ancestor and are first cousins or fourth cousins once removed. Inheritance is by an autosomal recessive gene with 100%penetrance.
T E, NIX, H W, KLOEPFER, V J, DERBES
openaire   +3 more sources

Genetics of lamellar ichthyosis

Egyptian Journal of Dermatology and Venereology
Ichthyosis is a dermatological condition that causes the skin in a wide range of integumentary regions of the body to become dry, rough, and scaly. Ichthyosis affect 5–10/100 000 people worldwide. Lamellar ichthyosis (LI) is part of autosomal recessive congenital ichthyosis and is a significant type of inherited ichthyosis in no-syndromic form ...
Ziske Maritska, Sandria Sandria, Nunung Noviyanti, Ulfa M. Lubis, Maretha W. Astria, Merta A. Prastika, Priya A. Chandra, Raden Satria Surya Chandra   +7 more
openaire   +2 more sources

Lamellar ichthyosis.

The New England journal of medicine, 1972
Biopsy specimens from patients with lamellar ichthyosis were studied by histologic, enzyme histochemical, and electron microscopic methods. Routine sections were not diagnostic, showing hyperkeratosis, normal or thickened granular zone, and acanthosis and papillomatosis.
  +5 more sources