Project description:Parry Romberg syndrome (PRS) is a rare self-limiting disease, typically occurring in children and young adults, that causes slow progressive atrophy of one-half of the face. It primarily affects the subcutaneous tissue and skin with some cases exhibiting deeper extension to glandular, osseous and muscular structures. Neurologic and ocular involvement is variable. Neuroimaging with computed tomography (CT) scan aids in demonstrating radiological features, assessing disease severity, and detecting neurological and ocular complications. We present a severe case of PRS in a 25-year-old female with right-sided facial asymmetry, diagnosed based on medical history, clinical examination and head CT scan findings.

| S-EPMC11461924 | biostudies-literature

Genetic variations in patient with Parry-Romberg syndrome.

Project description:Parry-Romberg syndrome is a rare craniofacial disorder which is characterized by progressive facial atrophy. The etiology and pathogenesis of the disease are not known. Herein, we report the genetic variants in patient with this disease. A 25-year-old woman was diagnosed with Parry-Romberg syndrome according to her clinical manifestation, which presented with typical progressive unilateral facial soft tissue atrophy. Using peripheral blood samples, Whole exome sequencing (WES) was conducted on this patient and her parents. Variant loci of the genes were validated by Sanger sequencing in her twin sister who had no Parry-Romberg syndrome. Subsequently, we searched the GeneCards®: the Human Gene Database for variant genes, annotated them and analyzed their functions. The results of WES showed that 2 genes (MTOR, DHX37) were mutated, and the variant loci were MTOR: NM_004958.4: exon31: c.4487A>T: p.Q1496L and DHX37: NM_032656.4: exon17: c.2180C>T: p.T727M, respectively. However, the variant loci were also detected in her twin sister by Sanger sequencing. The Human Gene Database for variant genes shows that the two genes may be associated with craniomaxillofacial developmental abnormalities. Although MTOR and DHX37 genes were tested and found to have mutations in patient with Parry-Romberg syndrome, these variants may not directly determine the clinical phenotype. When studying clinical etiology, other factors, such as the environment, should also be taken into account.

| S-EPMC9829853 | biostudies-literature

Magnetic resonance imaging findings in children with Parry-Romberg syndrome and en coup de sabre.

Project description:BackgroundThe aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities.MethodsThis was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with ECDS/PRS seen from 2000 to 2018. We identified patients with cutaneous manifestations consistent with the clinical descriptions of ECDS/PRS. Presenting clinical, laboratory, and radiological brain findings are described. Results are expressed as medians and ranges or frequencies and percentages. Fisher's exact test was used to identify clinical associations with magnetic resonance imaging (MRI) abnormalities.ResultsFourteen patients were studied: 6 males and 8 females; median age 14 years (range 3-20). We observed neuroimaging abnormalities in 2/6 ECDS and 5/8 ECDS/PRS patients. White matter signal abnormality, dystrophic calcification, leptomeningeal enhancement, and sulcal crowding were the typical findings on brain imaging. A total of 50% of patients had no MRI abnormality despite some of these patients having neurological symptoms. The presence of seizures was significantly associated with ipsilateral enhanced white matter signalling on MRI (p < 0.05).ConclusionsIn summary, we observed several distinct radiographic patterns associated with ECDS/PRS. Seizure disorder was strongly associated with the presence of ipsilateral enhanced white matter signalling. Improved neuroimaging techniques that combine morphological with functional imaging may improve the detection rate of brain involvement in children with ECDS/PRS in the future.

| S-EPMC7986399 | biostudies-literature

Multi-vessel coronary artery aneurysms in a patient with Parry Romberg syndrome: a case report.

Project description:BackgroundCoronary artery aneurysms (CAAs) are a very rare finding on coronary angiograms with multiple known aetiologies. Parry Romberg syndrome (PRS) is also a very rare disease, and the underlying aetiology remains unknown. We present a rare case of CAAs in a patient with PRS, and discuss possible implications regarding the primary pathophysiological cause for both of these diseases.Case summaryA 48-year-old woman with a history of PRS presented with atypical and non-exertional chest pain. Initial evaluation demonstrated a rising troponin without associated electrocardiogram changes, and as such she was taken for left heart catheterization. Left heart catheterization demonstrated diffuse aneurysmal and ectatic disease of multiple coronary arteries. Further evaluation with magnetic resonance angiogram and autoantibody panel did not demonstrate other vascular anomalies or rheumatologic disease, respectively. She was treated with dual anti-platelet therapy and statin, and at 1 year follow-up, she had resolution of her symptoms.DiscussionIt has been postulated that the underlying mechanism causing CAA is intravascular inflammation. Parry Romberg syndrome is theorized to be a neurovasculopathy, as evidenced by cases of associated intracranial aneurysms. Intravascular inflammation may play a key pathological role in CAA, and an association between CAA and PRS may exist.

| S-EPMC6764534 | biostudies-literature

Epilepsy in Parry-Romberg syndrome and linear scleroderma en coup de sabre: Case series and systematic review including 140 patients.

Project description:Parry-Romberg syndrome (PRS) and linear sclerosis en coup de sabre (LScs) are rare, related, autoimmune conditions of focal atrophy and sclerosis of head and face which are associated with the development of focal epilepsy. The scarcity of PRS and LScs cases has made an evidence-based approach to optimal treatment of seizures difficult. Here we present a large systematic review of the literature evaluating 137 cases of PRS or LScs, as well as three new cases with epilepsy that span the spectrum of severity, treatments, and outcomes in these syndromes. Analysis showed that intracranial abnormalities and epileptic foci localized ipsilateral to the external (skin, eye, mouth) manifestations by imaging or EEG in 92% and 80% of cases, respectively. Epilepsy developed before external abnormalities in 19% of cases and after external disease onset in 66% of cases, with decreasing risk the further from the start of external symptoms. We found that over half of individuals affected may achieve seizure freedom with anti-seizure medications (ASMs) alone or in combination with immunomodulatory therapy (IMT), while a smaller number of individuals benefitted from epilepsy surgery. Although analysis of case reports has the risk of bias or omission, this is currently the best source of clinical information on epilepsy in PRS/LScs-spectrum disease. The paucity of higher quality information requires improved case identification and tracking. Toward this effort, all data have been deposited in a Synapse.org database for case collection with the potential for international collaboration.

| S-EPMC11529207 | biostudies-literature

Wilfrid Hocking Parry

Project description: Not available

| S-EPMC1123237 | biostudies-literature

John Niall Meredydd Parry

Project description: Not available

| S-EPMC1125390 | biostudies-literature

Clinical Images: Osteonecrosis of the sternum in antiphospholipid syndrome.

Project description: Not available

| S-EPMC11694250 | biostudies-literature

Clinical Images: Liver nodular regenerative hyperplasia in antisynthetase syndrome.

Project description: Not available