Unexpected life-threatening complications in Kabuki syndrome

Autor: Jeannette Hoogeboom, Patrick J. Willems, M M van Haelst, Marja W. Wessels, Dick Tibboel, Alice S. Brooks, J C den Hollander, M. F. Niermeijer, J. C. De Jongste, J J Bongers-Schokking

Publikováno v: van Haelst, M M, Brooks, A S, Hoogeboom, J, Wessels, M W, Tibboel, D, de Jongste, J C, den Hollander, J C, Bongers-Schokking, J J, Niermeijer, M F & Willems, P J 2000, ' Unexpected life-threatening complications in Kabuki syndrome ', American Journal of Medical Genetics, vol. 94, no. 2, pp. 170-3 . https://doi.org/10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2
American Journal of Medical Genetics, 94(2), 170-3. Wiley-Liss Inc.

Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef8ec83ef301f79840dbb617cef8df7
https://doi.org/10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co

Use of skin substiture dressings in the treatment of Staphylococcal scalded skin syndrome in neonates and young infants

Autor: J C den Hollander, Arnold P. Oranje, André Kroon, Jan Dokter, Martin G. A. Baartmans

Publikováno v: Neonatology, 100, 9-13. Karger
Neonatology, 100(1), 9-13. Karger

Background: Staphylococcal scalded skin syndrome (SSSS) is a rare toxin-mediated skin disease caused by Staphylococcus aureus and seen in infants and children younger than 5 years. Objectives: The supportive role of skin substitutes in SSSS is stress

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b49b5e20fdc471ca97274f3816f4ffa
https://pure.eur.nl/en/publications/9c3e8621-c204-493c-a05f-203745aa0182

An unusual nail bed condition

Autor: Reinier Feitz, J C den Hollander, A. Ghand, Steven E.R. Hovius, S. Flood

Publikováno v: European Journal of Plastic Surgery. 28:109-112

Subungual squamous cell carcinoma is a misleading condition, occurring mostly in elderly men. The carcinoma is often present for years, once the diagnosis is made. Amputation of a part of the involved digit is still the standard therapy. The reported

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3078151dceaea8b515ea4e119be035c
https://doi.org/10.1007/s00238-005-0779-2

Hyperpigmentation during interferon-alpha therapy for chronic hepatitis C virus infection

Autor: M H Kemmeren, J T Brouwer, R A De Man, Markus Böhm, J M Vrolijk, M Willems, J C den Hollander, K Munte

Publikováno v: British Journal of Dermatology, 149, 390-394. Wiley-Blackwell Publishing Ltd

Many types of skin disorders concomitantly occur with hepatitis C virus infection. These skin lesions may be induced or worsened during antiviral therapy with interferon-alpha (IFN). To our knowledge, hyperpigmentation of the skin--and especially of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2575c3f20a0efad3bed52be9d8a977a7
https://doi.org/10.1046/j.1365-2133.2003.05422.x

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

Autor: H. Toriello, Steven E.R. Hovius, Martijn H. Breuning, Ad F. M. Diepstraten, Annemarie Sommer, Arnold P. Oranje, R.A.Th.M. Langemeijer, J C den Hollander, J.R. Dwek, N. Baumgartner

Publikováno v: American Journal of Medical Genetics. 94:91-101

Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b73a7e5bdc30bf3b5494ec19a525a854
https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co