Results 231 to 240 of about 517,181 (258)

Congenital Ichthyosis and Medulloblastoma

Dermatology, 1977
Occurrence of ichthyosis and malignancy together is unusual. An 18-year-old patient suffering from congenital ichthyosis was found to have a medulloblastoma of cerebellum. A short review of the literature of cases of tumors with ichthyosis, and neurological syndromes with ichthyosis is presented.
openaire   +3 more sources

Congenital ichthyosis: report of two cases of hariequin ichthyosis

The Indian Journal of Pediatrics, 1984
Two neonates, a girl and a boy, with classical features of harlequin ichthyosis are documented with brief review of literature.
Laxman Singh Arya, M. H. Jawadi, Fazal Mi, Meharban Singh, Aram Gn   +4 more
openaire   +3 more sources

Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

American Journal of Medical Genetics. Part A, 2020
Prader–Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms include paternal 15q11‐q13 deletion, maternal chromosome 15 uniparental disomy (UPD15), Prader–Willi Syndrome/Angelman Syndrome (PWS/AS) critical ...
K. Muthusamy, Erica L. Macke, E. Klee, P. Tebben, J. L. Hand, L. Hasadsri, Cherisse A. Marcou, L. Schimmenti   +7 more
semanticscholar   +1 more source

Congenital Ichthyosis and Hyperlipidemia

2019
A child presented with generalized ichthyosis, delayed motor and mental milestones, abdominal distension, myopia, sensorineural hearing loss and recurrent attacks of myalgia. He also had hypertriglyceridemia and elevated liver enzymes. His brother was similarly affected, and both had a history of erythroderma at birth.
Faiza Mohamed Al-Ali, Mohammad Ali El-Darouti   +1 more
openaire   +2 more sources

Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype

Journal of the American Academy of Dermatology, 2008
Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34.
Bygum, Anette, Westermark, Per, Brandrup, Flemming   +2 more
openaire   +4 more sources

Congenital ichthyosiform erythroderma and harlequin ichthyosis

The Indian Journal of Pediatrics, 1983
Five cases of congenital ichthyosiform erythroderma are being reported of these three were harleauin babies and two were collodion babies. The harlequin ichthyosis is a rare and dramatic manifestation of severe congenital ichthyosis, the longest reported suruival being 6 wk.
P. Madhavachandran Nair, V. G. Chellam, K. Sabarinath   +2 more
openaire   +3 more sources

Two Cases of Congenital Ichthyosis

Archives of Dermatology, 1963
Two cases of a rare form of congenital ichthyosis in infants born to the same parents are presented. The report is made possible by the fact that the same family has been coming to the same hospital for years. In this family it was evident that the skin defect was sexlinked.
openaire   +3 more sources

Cataract Associated with Congenital Ichthyosis

Archives of Ophthalmology, 1958
Cataract associated with congenital ichthyosis is a rare occurrence. It is the purpose of this paper to discuss this occurrence, to review the literature available, and to present two cases occurring in Japanese male siblings. The two cases were isolated instances in a family with no history of ichthyosis or cataract on either the paternal or maternal
openaire   +3 more sources

High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect

International Journal of Dermatology, 2020
Autosomal recessive congenital ichthyoses (ARCI) are inherited disorders produced by mutations in essential genes for the skin function. A low prevalence of this disease has been resported worldwide; however, in a recent study, we identified a large ...
Manuel González-Del Carmen, S. Montaño, O. Reyes-Hernández, P. A. Vizcaino-Dorado, N. Leyva-García, Juan C Morales-Morfín, Wendy Diaz-Beltrán, Edna Quinto-Santiago, Lizbeth Cariño-Calvo, J. Magaña, G. Leyva-Gómez, H. Cortés   +11 more
semanticscholar   +1 more source

Ocular Manifestations of Congenital Lamellar Ichthyosis

European Journal of Ophthalmology, 2005
Purpose To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied.
A J Singh, P L Atkinson
openaire   +3 more sources