Results 201 to 210 of about 573,924 (254)

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   +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   +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.
L S, Arya, M H, Jawadi, G N, Aram, M I, Fazal, M, Singh   +4 more
openaire   +2 more sources

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation.

Journal of dermatological science (Amsterdam), 2019
BACKGROUND NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI).
Y. Murase, T. Takeichi, A. Kawamoto, K. Tanahashi, Y. Okuno, H. Takama, E. Shimizu, J. Ishikawa, T. Ogi, M. Akiyama   +9 more
semanticscholar   +1 more source

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

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   +2 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   +2 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 M, Nair, K, Sabarinath, V G, Chellam
openaire   +2 more sources

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.

Journal of dermatological science (Amsterdam), 2019
BACKGROUND Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like phospholipase domain-containing protein-1 (PNPLA1), plays a key role in the epidermal omega-
Gizem Onal, Ozlem Kutlu, E. Ozer, D. Gozuacik, A. Karaduman, Serap Dokmeci Emre   +5 more
semanticscholar   +1 more source

A founder DBR1 variant causes a lethal form of congenital ichthyosis

Human Genetics, 2023
H. Shamseldin, M. Sadagopan, Javier Martini, R. Al-Ali, M. 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