Results 51 to 60 of about 832 (143)
Phenotypic Spectrum and Diagnostic Challenges in Klippel‐Trenaunay Syndrome: A Case Series
Clinical Case Reports, Volume 13, Issue 11, November 2025.ABSTRACT Klippel‐Trénaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of capillary malformations, venous varicosities, and soft tissue or bony hypertrophy. This case series highlights rare and atypical presentations of KTS, emphasizing the importance of a multidisciplinary diagnostic approach.
Marya Hameed, Tooba Ali, Md Ariful Haque
wiley +1 more source
Rasmussen’s Encephalitis [PDF]
, 2022 Introduction: Rasmussen’s encephalitis (RE) is an inflammatory encephalopathy characterized by progressive refractory focal seizures, cognitive deterioration and focal neurological deficit that occur with gradual atrophy of one brain hemisphere ...
Gaurav Dave +6 more
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Localized Abdominal Idiopathic Lipodystrophy [PDF]
, 2008 Localized loss of subcutaneous tissue can occur after panniculitis, injections of corticosteroids and other drugs, or associated with infectious, autoimmune or neurologic diseases.
Feio, A, Serrão, V
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Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Arquivos de Neuro-Psiquiatria, 1997 Os autores relatam dois casos de hemiatrofia facial progressiva (HFP), ambos do sexo feminino, associados à hiperexcitabilidade neuromuscular, representada por dores neurálgicas e espasmos musculares (câimbras) numa hemiface.
José Correia de Farias Brito +3 more
doaj +1 more source
Progressive Hemifacial Atrophy After Implant Placement in Patients Taking Immunosuppressive Agents [PDF]
, 2019 Progressive hemifacial atrophy (PHA) is a rare disorder characterized by acquired unilateral facial atrophy. This disease mainly affects the skin and the craniofacial tissue below forehead. It also involves dermatomes of the fifth cranial nerve.
김대훈 +3 more
core +1 more source
Dyke-Davidoff-Masson Syndrome: A Delayed Diagnosis of an Acquired Variant [PDF]
, 2018 Dyk-Davidof-Masson Syndrome (DDMS) is an important cause of intractable and drug-resistant seizures. It has varied clinical presentation and history with distinct neuroimaging features.
Kumar, T Seetam +2 more
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Autoimmune‐associated seizure disorders
Epileptic Disorders, Volume 26, Issue 4, Page 415-434, August 2024.Abstract With the discovery of an expanding number of neural autoantibodies, autoimmune etiologies of seizures have been increasingly recognized. Clinical phenotypes have been identified in association with specific underlying antibodies, allowing an earlier diagnosis.
Kelsey M. Smith +7 more
wiley +1 more source
Case report of progressive facial hemiatrophy
Journal of Holistic Nursing and Midwifery, 2007 Introduction: Progressive facial hemiatrophy (Parry-Romberg syndrome) is a rare disease always with neurological symptoms such as migraine and epilepsy.
tahereh seyednoori +2 more
doaj
Dyke‐Davidoff‐Masson syndrome—A rare cause of recurrent seizures in adulthood
Clinical Case Reports, Volume 12, Issue 6, June 2024.Key Clinical Message It is important to consider DDMS as a differential diagnosis in any patient with early childhood onset of epilepsy. Early diagnosis and optimal management are key to reducing the disabling effect of DDMS.
Patricia Afrim +6 more
wiley +1 more source