Harlequin Ichthyosis

Rajpopat, Shefali; Moss, Celia; Mellerio, Jemima E.; Vahlquist, Anders; Gånemo, Agneta; Hellström-Pigg, Maritta; Ilchyshyn, A.; Burrows, Nigel; Lestringant, Gilles G.; Taylor, Aileen; Kennedy, Cameron; Paige, David G.; Harper, John; Glover, Mary; Fleckman, Philip; Everman, David B.; Fouani, Mohamad; Kayserili, Hülya; Purvis, Diana; Hobson, Emma; Chu, Carol; Mein, Charles A.; Kelsell, David P.; O’Toole, Edel A.

doi:10.1001/archdermatol.2011.9

Cited by 149 publications

(76 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Harlequin ichthyosis, the most severe lethal form of congenital ichthyosis, is characterized by defects in lipid transport, protein phosphatase activity, and differentiation, accompanied by the development of abnormal lamellar body formation in the epidermis [51]. The abnormal development of keratinocyte lamellar bodies is reminiscent of ABCA3 (see above).…”

Section: Lipid Transporters and Diseasementioning

confidence: 99%

“…The abnormal development of keratinocyte lamellar bodies is reminiscent of ABCA3 (see above). Neonates suffering from this form of ichthyosis have a severely compromised skin barrier resulting in predisposition to sepsis, dehydration and thermal dysregulation [51]. Mutations in ABCA12 were identified in patients with harlequin ichthyosis (Table 1), who had an abnormal and congested stratum corneum filled with vacuole-like immature lamellar granules.…”

Section: Lipid Transporters and Diseasementioning

confidence: 99%

See 1 more Smart Citation

Role of ABC transporters in lipid transport and human disease

Tarling

Vallim

Edwards

2013

Trends in Endocrinology & Metabolism

252

190

View full text Add to dashboard Cite

Almost half of the 48 human ATP binding cassette (ABC) transporter proteins are thought to facilitate the ATP-dependent translocation of lipids or lipid-related compounds. Such substrates include cholesterol, plant sterols, bile acids, phospholipids and sphingolipids. Mutations in a substantial number of the 48 human ABC transporters have been linked to human disease. Indeed the finding that 12 diseases have been associated with abnormal lipid transport and/or homeostasis, demonstrates the importance of this family of transporters in cell physiology. This review highlights the role of ABC transporters in lipid transport and movement, in addition to discussing their roles in cellular homeostasis and inherited disorders.

show abstract

Section: Lipid Transporters and Diseasementioning

confidence: 99%

Section: Lipid Transporters and Diseasementioning

confidence: 99%

Role of ABC transporters in lipid transport and human disease

Tarling

Vallim

Edwards

2013

Trends in Endocrinology & Metabolism

252

190

View full text Add to dashboard Cite

show abstract

“…In addition to access for antibacterial treatment, for parenteral nutrition (which was not the case for this baby) and hydration, umbilical catheter insertion is indicated soon after birth. The alternative venous access may be on the scalp, peripheral or through PICC (27) ; the latter was adopted to maintain access in the newborn under study.…”

Section: Discussionmentioning

confidence: 99%

“…Fluid balance, serum proteins, albumin and electrolytes should be carefully monitored. When adequate sucking and swallowing is established, breastfeeding should be encouraged with the aim of stimulating the bond between mother and child (27) . Formula administration was initiated due to the reduced milk production reported by the mother; a fact that demonstrated fragility in the performance of specialized professionals to stimulate breast milk production, and later breastfeeding.…”

Section: Discussionmentioning

confidence: 99%

Assistência de enfermagem ao recém-nascido com Ictiose Lamelar: um estudo de caso em unidade neonatal

Moraes

Freire

Rocha

et al. 2019

Rev. esc. enferm. USP

View full text Add to dashboard Cite

RESUMO Objetivo: Apresentar os cuidados de enfermagem de um recém-nascido com Ictiose Lamelar internado na unidade de terapia intensiva neonatal de hospital público infantil, em município do estado do Paraná, Brasil. Método: Pesquisa de abordagem qualitativa, metodologia de Estudo de Caso, na qual foi explorado um caso real em sistema delimitado, um estudo intralocal, com coleta de dados de múltiplas fontes de informações, em 66 dias de internação, em 2016. Resultados: Os cuidados de enfermagem presentes no protocolo basearam-se em: manter a integridade da pele por meio de hidratação e lubrificação contínua com emolientes, controle da temperatura, nutrição e prevenção de infecções secundárias. Conclusão: Mediante o estudo do caso, afirma-se que a implementação do Processo de Enfermagem, sobretudo do plano de cuidados, foi essencial para o sucesso multidisciplinar do tratamento. Houve melhora da pele e mucosas, prevenção de infecções, culminando com condições favoráveis de sobrevida e autonomia dos pais para os cuidados em domicílio.

show abstract

“…Surgical wounding presumably increases the likelihood of systemic infection, which is the leading cause of neonatal death in HI . We recommend the use of topical antibiotics until the wounds are healed.…”

Section: Discussionmentioning

confidence: 99%