Results 71 to 80 of about 248,586 (158)

Amnion nodosum and congenital ichthyosis

, 1977
Histologic characteristics of the placentas in four cases of amnion nodosum and congenital ichthyosis, a rare association, are presented. Two cases were missed abortions of a single multiparous woman, supporting the hypothesis that in congenital ...
Friede, Roldão, Garcia, Aparecida Gomes Pinto, Lana, Ana Maria Arruda, Consorte, Sonia Maria   +3 more
core   +1 more source

A rare case of ocular pterygium in a young boy with congenital lamellar ichthyosis

Indian Journal of Ophthalmology. Case Reports
Congenital lamellar ichthyosis is a rare dermato-ocular disease occurring in 1:300,000 population and is autosomal recessive. The most common ocular manifestation reported is cicatricial ectropion.
Shubratha S Hegde, Sandhya Dharwadkar, K Athira, Harsha Shaji   +3 more
doaj   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients [PDF]

, 2018
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype.
Pulimood, Susanne, Valentin, Frederic, Thomas, Meera, Wiegmann, Henning, Sathishkumar, Dharshini, Peter, Dincy, Oji, Vinzenz, Hennies, H. C.   +7 more
core   +1 more source

Congenital harlequin ichthyosis: A rare case report and literature review [PDF]

, 1970
Harlequin ichthyosis is an extremely rare congenital genetic disorder. One of the most prominent features is the severe thickening and scales of newborn skin covering the whole body surface.
Kawilarang, Bertha
core   +1 more source

Invasive ocular surface squamous neoplasia in congenital ichthyosiform erythroderma

TNOA Journal of Ophthalmic Science and Research, 2017
We report an invasive type of ocular surface squamous neoplasia (OSSN) in a patient with congenital ichthyosiform erythroderma. A male patient aged 44 years, with ichthyosis presented with progressively growing right corneal mass, with decreasing vision.
Dhivya Ashok Kumar, Sasikala Nindra Krishna   +1 more
doaj   +1 more source

Lamellar Ichthyosis with Bilateral Ectropion [PDF]

, 2016
Lamellar ichthyosis is a rare congenital disorder with ocular manifestation resulting from the cicatrization of anterior lamella of eyelids. Early diagnosis and management of ectropion can prevent the most severe complications such as severe dry eyes ...
Sharma, Reena, Jain, Vaibhav Kumar, Jain, Gunjan, Sharma, Indra Kumar, Verma, Ganesh Kumar   +4 more
core   +1 more source

An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis. [PDF]

, 2019
Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal.
Eager, K L M, B. A. O'Rourke, A. Bauer, Bauer, Anina, I. M. Häfliger, T. Leeb, C. Drögemüller, Tammen, I, I. Tammen, Häfliger, Irene Monika, O'Rourke, B A, S. A. Woolley, K. L. M. Eager, Drögemüller, Cord, Leeb, Tosso, Woolley, S A   +15 more
core   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +1 more source