Lens subluxation combined with parry-romberg syndrome: case report.

BACKGROUND: Parry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai. CASE PRESENTATION: A 60-year-old woman was referred for "right visual blur for 2 years" and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year's follow up. CONCLUSIONS: Here we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.

A case of progressive crossed hemiatrophy mistaken as panniculitis.

Progressive crossed hemiatrophy is an extremely rare clinical type of facial hemiatrophy that presents primarily as unilateral facial atrophy and contralateral trunk or limb involvement. The undistinguishable clinical manifestation and pathological changes complicate diagnosis, especially at the onset of the disease when presenting with less clinical evidence. Here, we report a case of a 9-year-old boy started with left scalp induration, following with subcutaneous tissues atrophy on the right trunk. He was mistaken as panniculitis based on the pathologic findings and treated with topical tacrolimus without any improvement. Immune-related tests were implemented to exclude connective tissues. Imaging examinations such as magnetic resonance was conducted to evaluate the range and degree of the involvement of the skin, soft tissue, and cranial changes. Although no effective treatment to hold back the progress has been reported so far, surgeries might work to restore the appearance to some extent or improve central nerves symptoms if they exist.

Genetic variations in patient with Parry-Romberg syndrome.

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.

[Ocular involvement in Parry-Romberg syndrome]. / Porazhenie organa zreniya pri sindrome Parri­Romberga.

Parry-Romberg syndrome (PRS) is a rare degenerative disease of unknown etiology, characterized by slow progressive hemifacial atrophy of the soft tissues (subcutaneous fat, muscles), cartilage and bones. Beside hemifacial atrophy, various ophthalmic and periocular manifestations of PRS has been described. Progressive enophthalmos and eyelid changes are only some of many other symptoms, as the disease can affect all layers of the eyeball. This article reviews literature on ophthalmic manifestations of PRS and reports our own case and treatment approach for a patient with this pathology.

Association of intracranial abnormalities with the development of epilepsy and drug-resistant epilepsy in patients with Parry-Romberg syndrome.

BACKGROUND: Epilepsy represents an essential component of Parry Romberg syndrome (PRS). This study aimed to identify clinical factors that influence the development of epilepsy and drug-resistant epilepsy (DRE) in PRS. METHODS: We retrospectively reviewed the medical records of eighty patients with PRS. Data including the age of onset for PRS, history of seizures, use and timing of immunotherapy, antiseizure medication use, and EEG and brain imaging findings were reviewed. For comparison with the patients with epilepsy (PRSe+) group, we selected 18 age and sex-matched controls from the patient without epilepsy (PRSe-) cohort using propensity score matching. RESULTS: Eighteen (22.5%) had epilepsy: 12 were female, and the median age was 14.5 years (range = 6-48 years). Eleven patients developed DRE. The median latency between the onset of cutaneous manifestations and diagnosis and timing and use of immunotherapy was similar between the PRSe + and PRSe- groups. Intracranial abnormalities were commonly seen in the PRSe + group (16 vs. 2, p < 0.01). White matter disease and ipsilateral atrophy were common among the PRSe + group. Timing and use of immunotherapy, epileptiform discharges, and brain imaging abnormalities did not differ between those with DRE and without. CONCLUSIONS: The presence and degree of severity of ipsilateral brain abnormalities are risk factors for the development of epilepsy in PRS but not factors in predicting drug resistance. The timing of immunotherapy did not influence the development of PRSe + or DRE. Prospective studies are needed to identify biomarkers for epilepsy and assess the role of immunotherapy on seizure outcomes in PRSe + .

Brain Abnormalities and Epilepsy in Patients with Parry-Romberg Syndrome.

BACKGROUND AND PURPOSE: Parry-Romberg syndrome is a rare disorder characterized by progressive hemifacial atrophy. Concomitant brain abnormalities have been reported, frequently resulting in epilepsy, but the frequency and spectrum of brain involvement are not well-established. This study aimed to characterize brain abnormalities in Parry-Romberg syndrome and their association with epilepsy. MATERIALS AND METHODS: This is a single-center, retrospective review of patients with a clinical diagnosis of Parry-Romberg syndrome and brain MR imaging. The degree of unilateral hemispheric atrophy, white matter disease, microhemorrhage, and leptomeningeal enhancement was graded as none, mild, moderate, or severe. Other abnormalities were qualitatively reported. Findings were considered potentially Parry-Romberg syndrome-related when occurring asymmetrically on the side affected by Parry-Romberg syndrome. RESULTS: Of 80 patients, 48 (60%) had brain abnormalities identified on MR imaging, with 26 (32%) having abnormalities localized to the side of the hemifacial atrophy. Sixteen (20%) had epilepsy. MR imaging brain abnormalities were more common in the epilepsy group (100% versus 48%, P < .001) and were more frequently present ipsilateral to the hemifacial atrophy in patients with epilepsy (81% versus 20%, P < .001). Asymmetric white matter disease was the predominant finding in patients with (88%) and without (23%) epilepsy. White matter disease and hemispheric atrophy had a higher frequency and severity in patients with epilepsy (P < .001). Microhemorrhage was also more frequent in the epilepsy group (P = .015). CONCLUSIONS: Ipsilateral MR imaging brain abnormalities are common in patients with Parry-Romberg syndrome, with a higher frequency and greater severity in those with epilepsy. The most common findings in both groups are white matter disease and hemispheric atrophy, both presenting with greater severity in patients with epilepsy.

Multi-Staged Surgeries for Coexisting Facial Asymmetry and Strabismus in Parry-Romberg Syndrome.

ABSTRACT: Parry-Romberg syndrome (PRS) is a rare disorder resulting in disfiguring facial asymmetry. Ocular manifestations can result in complex strabismus. There were limited reports on the treatment of PRS with coexisting strabismus. We present a multistaged surgical approach to manage the facial asymmetry and strabismus.

Fundus changes of Parry-Romberg syndrome: A report of three cases and literature review.

PURPOSE: To report three cases of Parry-Romberg syndrome (PRS) with progressive hemifacial atrophy and similar fundus changes. METHODS: Retrospective case series of three patients who presented to the ophthalmology department with blurred vision in one eye. All of them underwent three-dimensional reconstruction of head computed tomography (CT), related physical examinations, and also monthly ocular examinations of both eyes, including the slit-lamp microscope, fundus autofluorescence, optical coherence tomography (OCT), and fundus fluorescein angiography (FFA). We also reviewed the current literature about the fundus change in PRS from inception to March 2020 via PubMed. RESULTS: Coats-like fundus and exudative retinal detachment were found in all three eyes of three patients during the follow-up. No systematic changes were found except for hemifacial atrophy. The final diagnoses of these three patients were PRS. CONCLUSION: Only a subset of PRS patients have concomitant ocular changes, but it still should be noticed that the diagnosis of PRS should be considered if adults presented with Coats-like retinopathy and hemifacial atrophy.

Headache in progressive facial hemiatrophy (Parry-Romberg syndrome): A paradigmatic case and systematic review of the literature.

BACKGROUND: Parry-Romberg syndrome is a neuro-cutaneous disease characterized by progressive hemifacial atrophy. Although common, headache in this population is scarcely reported in the literature. OBJECTIVE: To evaluate the clinical features of headache in pediatric and adult patients with Parry-Romberg syndrome, and to discuss diagnostic and treatment approaches of headache in Parry-Romberg syndrome. METHODS: We conducted a systematic review in accordance with PRISMA guidelines. We searched the MEDLINE database to identify eligible studies and identified patients with Parry-Romberg syndrome and headache. We further reported a paradigmatic case with a complex headache disorder and described its management and outcome. RESULTS: We identified 74 articles, 41 of which were included in the analysis. A total of 52 patients (55.8% female) were included for data analysis. The main age at onset of headache was 20 years (SD 15.2; range 3-56). A diagnosis of migraine was made in 53.9%. Abnormal brain imaging was found in 82.2% of patients. CONCLUSION: Long-term follow-up of patients is required, because headache may develop (and evolve) at any time over the course of the disease. Primary and secondary headaches often co-occur in patients with Parry-Romberg syndrome. Further research into the underlying etiopathogenesis and therapeutic targets would be recommended.

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

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.

[Chronic corneal ulcer revealing Parry-Romberg's syndrome: a case report]. / Ulcère de cornée chronique révélant un syndrome de Parry-Romberg: à propos d´un cas.

Parry-Romberg´s syndrome is a rare clinical entity characterized by progressive hemifacial atrophy associated with several systemic manifestations including ophthalmologic, neurologic, maxillofacial symptoms whose treatment should be multidisciplinary. We here report a case of Parry-Romberg´s syndrome diagnosed in a patient referred for management of chronic corneal ulcer following hypoesthesia, characterized by rare and difficult-to-treat features.

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

BACKGROUND: The 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. METHODS: This 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. RESULTS: Fourteen 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). CONCLUSIONS: In 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.

Ophthalmic changes in patients with hemifacial atrophy (Parry-Romberg syndrome).

PURPOSE: Parry-Romberg syndrome (PRS) is a rare condition characterized by progressive, unilateral facial atrophy. We hypothesize that patients with this condition may have involvement of the ocular structures. Here, we report our ophthalmic, clinical and anatomical findings in an observational study of six patients with long-standing PRS. METHODS: Patients diagnosed with PRS were invited to participate in a clinic visit during which the following tests were administered and data recorded: best-corrected vision, refractive error, Ishihara color plates, Hertel exophthalmometry, gonioscopy, complete slit-lamp and dilated fundus examination, Intra Ocular Lens Master measurements and keratometry. Two-sample T tests were used to compare data between affected and unaffected eyes, as well as affected eyes and a normative population. RESULTS: Six patients underwent complete eye examinations. The mean spherical equivalent of the affected eye was + 3.83 D, while that of the unaffected eye was + 0.13 D. The atrophic hemiface averaged 2.8 mm of enophthalmos on Hertel exophthalmometry. The axial length of the atrophic eye was 0.91 mm shorter than the unaffected eye. Compared to normative data, in patients with PRS, the difference between eyes was statistically different for each of the following variables: visual acuity, spherical equivalent, corneal diameter, axial length and flat and steep keratometry. CONCLUSIONS: This is one of the first quantitative, exploratory studies with ophthalmic measurements in patients with PRS. Our results suggest the globe may demonstrate atrophic changes similar to other soft tissues in the face known to be affected by this condition.

Scleroderma en Coup de Sabre, Parry-Romberg Hemifacial Atrophy and Associated Manifestations of the Eye, the Oral Cavity and the Teeth: A Danish Follow-Up Study of 35 Patients Diagnosed between 1975 and 2015.

BACKGROUND: Scleroderma en coup de sabre (ECDS) and Parry-Romberg idiopathic hemifacial atrophy (IHA) may affect the eyes, oral cavity, teeth and possibly the brain. OBJECTIVE: Systematic follow-up study of ECDS/IHA-associated manifestations including ophthalmic and dental status. METHODS: Medical records of ECDS and IHA patients diagnosed in a 40-year period (1975-2015) were reviewed, and patients were re-examined. RESULTS: Thirty-five patients were included. Twenty-two patients (63%) had ECDS and 4 patients (11%) IHA. In 9 cases (26%), ECDS and IHA were found in the same patient. The ipsilateral eye was affected in 9 patients (26%). Ipsilateral abnormalities of the teeth and the tongue were found in 13 (46%) out of 28 examined. Eleven (31%) had extrafacial scleroderma on the trunk or the extremities. Neurological findings were not verified as ECDS/IHA related. CONCLUSION: ECDS and IHA are related and often overlap with concomitant affections of the connective tissues of the face on the ipsilateral side. Ocular and dental abnormalities are common and follow the distribution of the primary affection, for example, a paramedian line in the front and segmental affection of the maxilla and the mandible. The affections point to predisposing dysmorphogenetic events in embryonal life affecting the face, with abnormality of crest cells at the stage when they migrate from behind over the scalp or laterally to the face to mix up with mesenchymal tissues of the frontonasal, maxillary and mandibular processes. The study emphasizes that routine evaluation of ECDS and IHA should include ophthalmological and dental specialist examinations.