Results 51 to 60 of about 14,871 (251)

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

Journal of the European Academy of Dermatology and Venereology, Volume 36, Issue 7, Page 973-986, July 2022., 2022
Abstract The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening underlying disease.
E. Cuperus, A. Bygum, L. Boeckmann, C. Bodemer, M.C. Bolling, M. Caproni, A. Diociaiuti, S. Emmert, J. Fischer, A. Gostynski, S. Guez, M.E. van Gijn, K. Hannulla‐Jouppi, C. Has, A. Hernández‐Martín, A.E. Martinez, J. Mazereeuw‐Hautier, M. Medvecz, I. Neri, V. Sigurdsson, K. Suessmuth, H. Traupe, V. Oji, S.G.M.A. Pasmans   +23 more
wiley   +1 more source

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome [PDF]

, 1996
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth.
A. J. C. Ladd, A. W. J. Heijs, C. P. Lowe, Christopher P. Lowe, Daan Frenkel, J. A. Kaandorp, J. E. N. Veron, J. Feder, Jaap A. Kaandorp, M. Muthukumar, P. Meakin, P. R. Warren, Peter M. A. Sloot, T. A. Witten   +13 more
core   +9 more sources

Keratosis pilaris rubra successfully treated with topical sirolimus: Report of a case and review of the literature

Pediatric Dermatology, Volume 39, Issue 3, Page 429-431, May/June 2022., 2022
Abstract Keratosis pilaris rubra (KPR) is a subtype of keratosis pilaris (KP) presenting with numerous “grainlike” follicular papules in a background of confluent erythema most often affecting the face and upper extremities with persistence beyond puberty.
Alexandra Eckburg, Tiana Kazemi, Sheilagh Maguiness   +2 more
wiley   +1 more source

Darier Disease with Psoriasis

Medicina, 2022
Darier disease is an autosomal dominant disorder with dark crusty patches and is classified as hereditary acantholytic dermatosis. Keratotic papules and crust are often present on the scalp, forehead, chest, back, upper arms, elbows, groin, and behind ...
Seok-Young Kang, So-Yeon Lee, Jin-Seo Park, Jin-Cheol Kim, Bo-Young Chung, Chun-Wook Park, Hye-One Kim   +6 more
doaj   +1 more source

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

American Journal of Medical Genetics Part A, Volume 188, Issue 2, Page 463-472, February 2022., 2022
Abstract Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X‐linked disorder caused by pathogenic variants in membrane‐bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intellectual disability and multiple congenital ...
Alanna Strong, Michael E. March, Christopher J. Cardinale, Sophia E. Kim, Jamie Merves, Hilary Whitworth, Leslie Raffini, Christopher Larosa, Lawrence Copelovitch, Cuiping Hou, Diana Slater, Courtney Vaccaro, Deborah Watson, Elaine H. Zackai, Jeffrey Billheimer, Hakon Hakonarson   +15 more
wiley   +1 more source

Recurrent corneal ulcerations with perforation in keratosis follicularis (Darier-White disease). [PDF]

Br J Ophthalmol, 2002
Mielke J, Grüb M, Besch D, Schlote T.
europepmc   +3 more sources

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents

Pediatric Dermatology, Volume 38, Issue 1, Page 164-180, January/February 2021., 2021
Abstract Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long‐term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally,
Andrea L. Zaenglein, Moise L. Levy, Nicole S. Stefanko, Latanya T. Benjamin, Anna L. Bruckner, Keith Choate, Brittany G. Craiglow, John J. DiGiovanna, Lawrence F. Eichenfield, Peter Elias, Philip Fleckman, Leslie P. Lawley, Richard A. Lewis, Anne W. Lucky, Erin F. Mathes, Leonard M. Milstone, Amy S. Paller, Sonali S. Patel, Dawn H. Siegel, Joyce Teng, Sherry A. Tanumihardjo, Lauren Thaxton, Mary L. Williams, PeDRA Use of Retinoids in Ichthyosis Work Group   +23 more
wiley   +1 more source

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
core   +3 more sources

The site-2 protease [PDF]

, 2002
The site-2 protease (S2P) is an unusually-hydrophobic integral membrane protease. It cleaves its substrates, which are membrane-bound transcription factors, within membrane-spanning helices. Although structural information for S2P from animals is lacking,
Robert B. Rawson, Brown, Wolfe, Rawson, Espenshade, Rawson, Hasan, Rawlings, Zelenski, Rudner, Feng, Zhou, Kinch, Espenshade, DeBose-Boyd, Shen, Seegmiller, Inaba, Ye, Lemberg, Urban, Paetzel, Wang, Lemieux, Ha, Bolter, Seo, Bien, Ye, Zhang, Horton, Radhakrishnan, Sakai, Seidah, Sakai, Duncan, Wang, Schoenheimer, Hasan, Limanek, Evans, Chang, Haze, Hetz, Shen, Kondo, Kondo, Lee, Bailey, Eleveld-Trancikova, Murakami, Murakami, Oeffner, Aten, Xu, Kunte, Matthews, Amarneh, Wang, Pai, Raggo, Lui, Stirling, Ben Aicha, Freeman, Urban, Hannah, Matthews   +67 more
core   +1 more source

Matrix metalloproteinase 9 (MMP-9) is differently expressed in cutaneous lichen planus and lichen sclerosus [PDF]

, 2012
Lichen planus is a mucocutaneous inflammatory disease of unknown etiology. Hyperkeratosis, focal hypergranulosis, damage to the basal cell layer, and bandlike infiltrate are hallmarks of LP skin.
Groma, Valerie, Legusa, Ilze
core   +3 more sources