Zobrazeno 1 - 10
of 148
pro vyhledávání: '"trichorrhexis invaginata"'
Publikováno v:
Case Reports in Dermatology, Vol 16, Iss 1, Pp 47-54 (2024)
Introduction: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture of ichthyosi
Externí odkaz:
https://doaj.org/article/764115ca868d4d28b32263aaf8002cd5
Publikováno v:
Global Medical Genetics, Vol 10, Iss 04, Pp 335-338 (2023)
Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for
Externí odkaz:
https://doaj.org/article/67bb2d2994f04682946f8405c96cf946
Autor:
Akshay Flora, Annika Smith
Publikováno v:
Case Reports in Dermatology, Vol 12, Iss 1, Pp 64-69 (2020)
Netherton’s syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals w
Externí odkaz:
https://doaj.org/article/42b2c61f5ad549188f57f40d5e6c9862
Autor:
Agata Moar, Manfredo Bruni, Donatella Schena, Erika Rigotti, Chiara Colato, Antonio Novelli, Claudia Cesario, Giampiero Girolomoni
Publikováno v:
Clinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2
Externí odkaz:
https://doaj.org/article/97c6b71d7b4b4051808801329e7bfb1e
Publikováno v:
Clinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Trichorrhexis invaginata and ichthyosiform erythroderma are pathognomic for Netherton Syndrome.
Externí odkaz:
https://doaj.org/article/288189b516384688ad6ffd1cc3b91f4d
Publikováno v:
Archives of Medicine and Health Sciences, Vol 8, Iss 1, Pp 93-95 (2020)
Erythroderma in the early years of life can have a wide array of differential diagnosis. We present a case of infantile erythroderma who presented to us at the age of 3 years with characteristic manifestations of ichthyosis linearis circumflexa and t
Externí odkaz:
https://doaj.org/article/c9210b1fbb7d4f7eadcf4ce3697eb90f
Autor:
Fereshteh Salari, Leila Bani Adam, Saba Arshi, Mohammad Hassan Bemanian, Morteza Fallahpour, Mohammad Nabavi
Publikováno v:
Journal of Pediatrics Review, Vol 7, Iss 4, Pp 223-228 (2019)
Introduction: Netherton Syndrome (NS) is a rare hereditary autosomal recessive disorder with ichthyosiform cutaneous lesions, specific hair shaft defect, and atopic diathesis. The incidence of NS is estimated to be approximately 1 in 200000. The obje
Externí odkaz:
https://doaj.org/article/4f57275d71b74b2f93acb18eb8a7ac05
Akademický článek
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Autor:
Asha Gowrappala Shanmukhappa, Priyadarshini Kharge, Bhumika Shivaram, Leelavathy Budamakuntala
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 17, Iss 4, Pp 294-296 (2016)
The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhexis invaginata”, reported by Netherton and the“Ichthyosis linearis circumflexa”, described by Comel. Comèl - Netherton syndrome is an autosom
Externí odkaz:
https://doaj.org/article/69010b5ff1e842f6a1d30ed2c9254aa8
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
Clinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
Trichorrhexis invaginata and ichthyosiform erythroderma are pathognomic for Netherton Syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c7a498e307c7d803d60b4f9abf1b14
http://europepmc.org/articles/PMC8502454
http://europepmc.org/articles/PMC8502454