Results 141 to 150 of about 61,429 (293)

Challenging Physiotherapy for Children with Ataxia Telangiectasia

, 2008
The aim of this article is to provide insight in the challenges for physiotherapists in assessment and treatment of the rare, degenerative and grave neurological disease Ataxia Telangiectasia (AT).
Trudy Burgers, Ellen Velema
core  

Therapy With Doxycycline and Hydroxychloroquine Enables Surgical Excision of Ulcerated Cutaneous Granulomas in a Patient With Ataxia Telangiectasia

Pediatric Dermatology, EarlyView.
ABSTRACT The rubella virus vaccine strain can cause granulomas in patients with inborn errors of immunity that may evolve into chronic, recalcitrant ulcers. This report details treatment of ulcerated rubella granulomas in a patient with ataxia telangiectasia with doxycycline and hydroxychloroquine resulting in partial ulcer healing within 4 weeks ...
Luis Murguía‐Favela, Sofia Maruschak‐Love, Robertson A. Harrop, Marie‐Anne Brundler, Kyle Kurek, Kevin Fonseca, Michele L. Ramien   +6 more
wiley   +1 more source

Segmental Infantile Hemangiomas That Involve the Midline Define Risk for LUMBAR Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT A systematic review of clinical photographs from 91 patients with LUMBAR syndrome demonstrated that infantile hemangiomas in affected individuals were consistently segmental in morphology and involved the anatomic midline of the lumbosacral, sacrococcygeal, or pelvic regions. No cases were “partial segmental” or spared the midline.
D. Metry, E. Fernandez‐Faith, A. Haggstrom, K. Keppler‐Noreuil, I. J. Frieden   +4 more
wiley   +1 more source

Ataxia-telangiectasia-like disorder-1 with ocular telangiectasia — A rare case report from India

Annals of Movement Disorders
Ataxia-telangiectasia-like disorder-1 (ATLD-1) is an autosomal recessive disorder that is classified as a chromosomal instability syndrome. It is caused by the homozygous or compound heterozygous variants of the MRE11 gene, which repairs the double ...
Anjali Chouksey
doaj   +1 more source

Infarcted Melanocytic Nevus With a Hair Tourniquet

Journal of Cutaneous Pathology, EarlyView.
Aashish Batheja, Robert Bai, Joseph Gillam, Justin Haught, Mark Mochel   +4 more
wiley   +1 more source

RAD51 and RAD51 paralog inhibition sensitizes nonreplicating quiescent keratinocytes to UV radiation

Photochemistry and Photobiology, EarlyView.
UV radiation and other compounds generate DNA adducts that block transcription and induce cell death if not removed by the nucleotide excision repair system. In this work, we used a small‐scale pharmacological screen to discover that inhibition of the recombinase RAD51 sensitized nonreplicating quiescent keratinocytes to both UVR and other agents that ...
Saman Khan, Angitha Nair, M. Alexandra Carpenter, Michael G. Kemp   +3 more
wiley   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Diffuse telangiectasia: A clue to the TEMPI syndrome

JAAD Case Reports, 2021
Yeping Ruan, MD, Xiaoqing Zhao, MD, Meng Pan, MD, PhD   +2 more
doaj   +1 more source

Tratamiento quirúrgico de rinofima. Presentación de dos casos

Medisur, 2016
El rinofima es una enfermedad de la piel de la nariz, consistente en una hipertrofia de las glándulas sebáceas locales que conlleva a una deformación característica. Se presenta con hipertrofia de la piel, inflamación crónica, aumento del tejido vascular,
Bernaldo Canto Vidal, Ángel Viera Dosil, Ramón Ahmed Pérez García   +2 more
doaj  

Plaque‐type trichoblastoma and its siblings: A (follicular tumour) family history

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Ines Bertlich, Ferdinand Toberer, Tilman Schulz, Dmitry V. Kazakov, Wolfgang Hartschuh   +4 more
wiley   +1 more source