Results 101 to 110 of about 19,609 (184)

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

A case report of harlequin ichthyosis in newborn

Journal of Clinical Images and Medical Case Reports
A rare and serious genetic skin disorder called harlequin ichthyosis can affect a developing fetus. The most severe and debilitating type of autosomal recessive ichthyosis is harlequin ichthyosis.
Arun Naphe Khatri
semanticscholar   +1 more source

A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery

حیات, 2019
Harlequin ichthyosis is the most severe form of autosomal-recessive congenital ichthyoses with a high mortality rate. In affected infants, mutations occur in the ABCA12 gene.
gholamreza faal, fatemeh rabani, Mahdi Hosseini   +2 more
doaj  

Issue Information

JEADV Clinical Practice, Volume 5, Issue 3, Page 745-750, September 2026.
wiley   +1 more source

Generalized morphea in a child with harlequin ichthyosis: a rare association [PDF]

, 2016
IntroductionHarlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No
Oliveira, Zilda N.P., Giacomin, Maria F.A., Machado, Maria C.R., França, Camila M.P., Silva, Clovis A., Sallum, Adriana M.E.   +5 more
core   +1 more source

Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis

, 2015
© 2014 Elsevier B.V. Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis.
Kelsell, D, Dalal, A, Aggarwal, S, Kar, A, Bland, P   +4 more
core   +1 more source

Harlequin ichthyosis in an African child: Case report [PDF]

, 2012
Severe congenital skin abnormalities are a rare event. This case is unique in that it is a case of harlequin ichthyosis in sub-sahara Africa in a child of African origin and elaborates the challenges faced in its management.
Gatinu, BW, Ochieng, R, Nduati, R, Murungi, CW, Kimani, E, Mbithe, J, Okiro, P, Migowa, AN, Rana, FS   +8 more
core   +1 more source

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup [PDF]

, 2018
Background: Congenital ichthyoses (CIs) adversely affect quality of life (QOL) in patients. However, the effects of CIs on patient QOL have not been studied sufficiently.
Takeichi, Takuya, Masuda, Koji, Nakajima, Kimiko, Kawakami, Hiroshi, Ochiai, Toyoko, Kanekura, Takuro, Kurosawa, Michiko, Hatano, Yutaka, Kubo, Akiharu, Moriwaki, Shinichi, Washio, Ken, Amano, Hiroo, Shibata, Akitaka, Murase, Chiaki, Tohyama, Mikiko, Asano, Masayuki, Nakatochi, Masahiro, Teramura, Kazuya, Ishii, Norito, Sato, Tomotaka, Seishima, Mariko, Ishida-Yamamoto, Akemi, Akasaka, Eijiro, Akiyama, Masashi, Kinoshita, Fumie, Ikeda, Shigaku   +25 more
core  

Harlequin ichthyosis [PDF]

, 2020
openaire   +3 more sources