Results 31 to 40 of about 5,748 (201)

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation [PDF]

, 2020
Background: NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI).
Takeichi, Takuya, Takama, Hiroyuki, Ogi, Tomoo, Murase, Yuya, Kawamoto, Akane, Ishikawa, Junko, Okuno, Yusuke, Shimizu, Eri, Akiyama, Masashi, Tanahashi, Kana   +9 more
core   +1 more source

Harlequin ichthyosis: A case image from Syria

Clinical Case Reports, 2022
Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh, Rajaa Daabool, Reem Hatem, Lina Al‐Soufi   +3 more
doaj   +1 more source

Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients

Balkan Journal of Medical Genetics, 2023
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T, Vuković I, Stojković M, Stanojlović S, Karanović J, Brajušković G, Savić-Pavićević D   +6 more
doaj   +1 more source

CONGENITAL ICHTHYOSIS [PDF]

The American Journal of the Medical Sciences, 1895
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openaire   +2 more sources

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Short stature with congenital ichthyosis [PDF]

BMJ Case Reports, 2015
PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome.
Som J, Lakhani, Om J, Lakhani
openaire   +2 more sources

The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]

Vestnik Dermatologii i Venerologii, 2023
Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
doaj   +1 more source

Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease

Вопросы современной педиатрии, 2022
Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes.
Nikolay N. Murashkin, Karine O. Avetisyan, Roman A. Ivanov, Svetlana G. Makarova   +3 more
doaj   +1 more source

Acral Melanoma in an Elderly Patient with Congenital Ichthyosis Vulgaris

, 2022
Ichthyoses are a heterogeneous group of skin disorders featuring erythro- derma and generalized scaling. The relationship between ichthyosis and melanoma has not been well-characterized.
Cotoi, Ovidiu Simion, Sincu, Mihaela Cornelia, Tincu, Andreea Cătălina, Dasanau, Constantin, Ambros, Mircea, Neagu, Nicoleta   +5 more
core   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source