Zobrazeno 1 - 10
of 55
pro vyhledávání: '"eclabium"'
Publikováno v:
Journal of Family Medicine and Primary Care, Vol 12, Iss 11, Pp 2990-2993 (2023)
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity. The majority of ichthyosis is inherited but acquired forms can deve
Externí odkaz:
https://doaj.org/article/79e9b5bad2a14c33a8fe6d5f00f7a5f3
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-5 (2018)
Abstract Background The term “collodion baby” is used to describe a newborn covered with a translucent, parchment-like skin sheet. It is an extremely rare condition with an estimated incidence of 1 in 300,000 live births. Clinically, the baby wil
Externí odkaz:
https://doaj.org/article/681dafce47f1490984d56d6daf2374c4
Publikováno v:
National Journal of Clinical Anatomy, Vol 4, Iss 4, Pp 199-201 (2015)
Harlequin Ichthyosis(HI) is a type of genodermatosis. It is a rare and fatal genetic disease. Life expectancy in an affected infant is only a few days. The defect lies in mutation of ABCA12 gene. The barrier action of skin is severely compromised mak
Externí odkaz:
https://doaj.org/article/76f065125b7a41688a409f55eb825465
Publikováno v:
Indian Journal of Case Reports. 6:621-624
Ichthyosis is a rare congenital disorder of the skin characterized by the presence of extra covering of tough film-like membrane over the skin leading to fissure formation on stretching. Clinically, newborns present with a membrane with fissures, ect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5c82f502f1126f7c11156ffec156f84
https://doi.org/10.32677/ijcr.2020.v06.i11.005
https://doi.org/10.32677/ijcr.2020.v06.i11.005
Autor:
Sundaramoorthy M. Srinivasan
Publikováno v:
Nasza Dermatologia Online, Vol 3, Iss 4, Pp 321-325 (2012)
Twenty eight years old primi gave birth to an amazing live baby by vaginal delivery – a Harlequin. The child was born with massive, diamond-shaped scales which limit the child’s movements. The term harlequin comes from the baby’s facial express
Externí odkaz:
https://doaj.org/article/67877c6ba15944e1ba6d5d59e327edca
Autor:
Sultan Al-Khenaizan, Luluah Al-Mubarak
Publikováno v:
Saudi Medical Journal. 42:454-456
Clinical Presentation A 2-month-old baby boy, of full-term spontaneous vaginal delivery, presented to the dermatology outpatient clinic with generalized erythroderma, which had been noted since birth. Family history was positive for similar disease i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c64a533afd02a3d03d43d1355d7f5d5
https://doi.org/10.15537/smj.2021.42.4.20200757
https://doi.org/10.15537/smj.2021.42.4.20200757
Autor:
Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 9, Iss 11, Pp QD04-QD06 (2015)
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include-
Externí odkaz:
https://doaj.org/article/939d3f16886b43ff93d57d3b62788cba
Publikováno v:
Acta Medica Philippina. 55
Introduction. Harlequin ichthyosis (HI) is a rare type of autosomal recessive congenital ichthyosis. There are approximately 200 documented cases worldwide, with less than five published reports in the Philippines. Despite its rarity, current literat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce758b938ac935e989055d39d5578cbb
https://doi.org/10.47895/amp.v55i5.2764
https://doi.org/10.47895/amp.v55i5.2764
Autor:
Luciana Mendes dos Santos, Marcela C. Pastore, Patricia C. B. de Melo, Patrícia Amaral Couto, Sidharta Q. Gadelha, Elaine Dias Melo, Caroline Chirano, Valeria K. A. Ferreira, Cecilya Melo Mota, Jessica C. N. Araújo
Publikováno v:
Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 77 n. 1 (2019): Janeiro / Março; 55-58
Journal of the Portuguese Society of Dermatology and Venereology; Vol 77 No 1 (2019): January / March; 55-58
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 77, Iss 1 (2019)
Journal of the Portuguese Society of Dermatology and Venereology; Vol 77 No 1 (2019): January / March; 55-58
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 77, Iss 1 (2019)
Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127853b2b312743b6ef5bc4ea770e7f6
https://doi.org/10.29021/spdv.77.1.984
https://doi.org/10.29021/spdv.77.1.984
Publikováno v:
Ann Transl Med
Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogeneous group of skin disorders, including harlequin ichthyosis (HI), lamellar ichthyosis, and bullous congenital ichthyosiform erythroderma. HI is the most phenotypi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26bef048d06a9bd3b81b66d10a8e245
https://europepmc.org/articles/PMC7867921/
https://europepmc.org/articles/PMC7867921/
