Facial Atrophy Research Articles

Deceleration of denervated facial muscle atrophy through functional electrical stimulation: a sonographic quantification in patients with facial nerve paralysis.

Functional Electrical Stimulation (FES) is an established intervention for a range of muscular and neurological disorders that has already been studied in numerous publications. However, its application to Peripheral Facial nerve Paralysis (PFP) still needs to be sufficiently investigated. As the first approach known to the authors, this study examines the effect of FES on the facial muscles in complete PFP using ultrasonography as a means of observation. In a prospective single-center observational pilot study, ten patients with complete PFP, confirmed by needle-electromyography (EMG), performed FES of the affected lateral mouth region at home twice daily for 20 minutes. The facial muscles' Cross-Sectional Area (CSA) was regularly assessed using sonographic quantification. While the CSA of most non-stimulated muscles decreased considerably during ongoing paralysis, a significant CSA increase of the Zygomaticus Muscle (ZYG), which was regularly subjected to FES, could be demonstrated. FES can halt the atrophy of denervated ZYG and potentially other facial muscles. Further investigations with a more significant patient collective are recommended. From now on, FES could be established as an additive method in the non-invasive treatment of PFP.

Successful Management of Parry-Romberg Syndrome With Lipografting: A Case Report

Parry-Romberg Syndrome (PRS), or progressive hemifacial atrophy, is a rare disorder marked by the progressive atrophy of skin and soft tissues, sometimes affecting muscles, cartilage, and bones. Typically manifesting in childhood, PRS has a 66% female predilection and sporadic occurrence. Diagnosis is clinical, supplemented by tests to exclude other conditions. Treatment options include bone/cartilage grafts, fat grafts, dermal fillers, and free tissue transplantation. Lipoinjection, using autologous adipose tissue enriched with stem cells, is a promising technique. A 33-year-old female with PRS exacerbated by pregnancy presented with severe right hemifacial atrophy. Initial lipoinjection elsewhere resulted in significant graft reabsorption. At our institution, a second lipoinjection was performed at age 34 after disease remission. Five months postoperatively, 30% graft reabsorption was noted, but significant improvement in facial symmetry was achieved. A second lipoinjection session further enhanced facial volume and skin quality. Four months postoperatively, the patient showed substantial improvement, with 90% facial symmetry and stable disease remission. Autologous lipoinjection is an effective treatment for PRS-related facial atrophy, offering minimal tissue rejection and satisfactory aesthetic outcomes. The presented case highlights the potential of this technique in achieving significant clinical improvement and facial symmetry in PRS patients.

Lens subluxation combined with parry-romberg syndrome: case report

BackgroundParry-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 presentationA 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.ConclusionsHere 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.

CLINICO-EPIDEMIOLOGICAL STUDY OF TOPICAL STEROID DAMAGED FACE IN A TERTIARY CARE HOSPITAL

Objectives- The aim of the study was to determine the clinical features, extent, and dermographics of topical corticosteroid usage on the face in patients who were seen in the dermatology outpatient department. Materials and Methods: Between August 2022 and August 2023, a questionnaire-based analysis of patients attending the dermatology outpatient department of a tertiary care hospital was conducted. The study was comprised of 200 subjects who applied topical steroid on their face for more than 6 weeks and they were enquired regarding their history. Clinical assessment, and lesion photography was also done. Results: 200 patients with topical steroid damaged face were examined in the study. The most prevalent age range for topical steroid use was between 18 and 30 years which comprised 42% of total patients in the study. Out of 200 patients 149 were women [74.5%]. The average time between commencing the topical steroid regimen and the appearance of symptoms was six months. 74 [39.5%] used topical steroids to treat dermatophyte infections and the remaining subjects used them for miscellaneous reasons. In this study population, cream-based betamethasone valerate was the most frequently misused steroid. The most frequent adverse effect was hyperpigmentation (27%) followed by acneiform eruptions (25%) facial erythema (18%), hypertrichosis (12%), perioral dermatitis (4%) and skin atrophy (5%), hypopigmentation(9%). Conclusion: Topical steroid damaged face is a dermatological concern. The public must be made aware of the possible danger of topical steroid abuse to stop its indiscriminate use.

Facial nerve function training in patients with peripheral facial paralysis: an expert consensus.

Facial nerve training can prevent facial expression muscle atrophy and promote the recovery of facial para-lysis in patients with peripheral facial paralysis. However, there is still a lack of specific and unified technical standards for facial nerve training, which results in a variety of clinical training methods and uneven levels. In order to standardize the application of facial nerve function training technology for nursing staff, the study convened relevant domestic experts, based on evidence-based combination with the disease characteristics of peripheral facial paralysis and expert clinical experience, conducted in-depth interviews with experts, expert correspondence and expert meetings, and finally formulated the expert consensus on facial nerve function training in patients with peripheral facial paralysis. Overall, suggestions for standardizing the timing, training methods, evaluation methods, health education and other aspects were provided for clinical reference.

EARLY DIAGNOSIS OF LIP CANCER: A CASE REPORT

A 53-year-old white male complained of a tongue alteration, noted by the dentist. On clinical examination, besides the lingual lesion, other changes were also observed: multiple red and blackened papules on the facial skin and atrophy of the lower lip, with loss of the interface between the skin and the labial mucosa, along with superficial and color changes, suggestive of actinic lesions (keratosis and cheilitis). Incisional biopsies were performed, and the histopathological reports were of the presence of epithelial atypia with the absence of malignancy in the tongue, compatible with microinvasive squamous cell carcinoma in the lip. The patient was an ex-smoker and had a history of chronic occupational sun exposure. This report highlights the importance of a thorough anamnesis and physical examination of the lips, often neglected by dentists. Thus, incisional biopsy and histopathological examination in actinic cheilitis, when indicated, are essential for the early detection of lip cancer. A 53-year-old white male complained of a tongue alteration, noted by the dentist. On clinical examination, besides the lingual lesion, other changes were also observed: multiple red and blackened papules on the facial skin and atrophy of the lower lip, with loss of the interface between the skin and the labial mucosa, along with superficial and color changes, suggestive of actinic lesions (keratosis and cheilitis). Incisional biopsies were performed, and the histopathological reports were of the presence of epithelial atypia with the absence of malignancy in the tongue, compatible with microinvasive squamous cell carcinoma in the lip. The patient was an ex-smoker and had a history of chronic occupational sun exposure. This report highlights the importance of a thorough anamnesis and physical examination of the lips, often neglected by dentists. Thus, incisional biopsy and histopathological examination in actinic cheilitis, when indicated, are essential for the early detection of lip cancer.

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.

Linear Scleroderma en Coup de Sabre Presenting with Stroke and Seizure (P3-5.022)

<h3>Objective:</h3> To describe the neurologic complications and imaging findings in a patient with linear scleroderma <i>en coup de sabre</i> (LScs) and associated Parry-Romberg syndrome. <h3>Background:</h3> LScs is a rare subset of localized scleroderma. Once thought to be an exclusively cutaneous disorder, recent studies suggest that rheumatologic, ophthalmologic, and neurologic symptoms occur in up to 20% of cases. <h3>Design/Methods:</h3> Case report. <h3>Results:</h3> A 32-year-old woman with LScs, associated Parry-Romberg syndrome, migraine, and prior left hemispheric stroke thought to be secondary to vasculitis presented with right arm and leg numbness. She had left hemifacial atrophy. Brain MRI showed an acute ischemic stroke in the posterior limb of the left internal capsule and a chronic T2/FLAIR-hyperintensity in the left frontal lobe immediately beneath the cutaneous forehead and scalp scar. She was previously on mycophenolate for presumed vasculitis, however she had discontinued it due to concern about immunosuppression during the COVID-19 pandemic. Computed tomography angiography, digital subtraction angiography and lumbar puncture were normal. Her stroke was thought to be due to small vessel occlusion. The occurrence of two ischemic strokes ipsilateral to the cutaneous changes and facial atrophy, the ipsilateral MRI findings mirroring the <i>coup de sabre</i> scar, and the occurrence of the new stroke after discontinuation of mycophenolate together suggest an underlying vasculopathy/vasculitis associated with her scleroderma. Her hospital course was complicated by episodes of rapid rhythmic shaking of the right leg with no alteration of awareness, suggesting simple focal motor seizures. She was started on a prednisone with plans for steroid-sparing immunosuppressive therapy (rituximab and mycophenolate). On follow-up evaluation, she was recovering well. <h3>Conclusions:</h3> LScs and Parry-Romberg syndrome are associated with multiple neurologic complications including ischemic strokes, seizures, and headaches. This case highlights the underrecognized relationship between neurologic complications and LScs and suggests an underlying inflammatory process responsive to immunosuppressive therapy. <b>Disclosure:</b> Dr. Greige has nothing to disclose. Dr. Feske has received publishing royalties from a publication relating to health care.

Treatment of Progressive Hemifacial Atrophy by Cartilage Graft and Free Adipofascial Flap Combined with Three-Dimensional Planning.

Progressive hemifacial atrophy (PHA) is a rare disease characterized by progressive atrophy of skin, soft tissue, muscles, and underlying bone structures. For severe PHA patients with obvious bone deformities, skeletal framework reconstruction is needed in addition to soft-tissue augmentation. The authors propose a new combinatorial surgical method using rib cartilage graft and free adipofascial flap for restoring facial symmetry. To improve the surgical accuracy, preoperative three-dimensional planning and printing was used. Twelve patients with severe facial atrophy were included in the authors' study. Three-dimensional facial image analyses were performed preoperatively to quantify the facial asymmetry. Rib cartilages were harvested and sculptured to the appropriate shape created by three-dimensional planning and fixed to the atrophic bone. The circumflex scapular artery-based adipofascial flap was transplanted to repair soft-tissue deficiency. A residual small monitor flap was left with the adipofascial flap. A revision surgery was performed to perfect the repair if the contour was suboptimal 6 months postoperatively. The adipofascial flaps survived in all 12 patients. All patients achieved good healing without complications. At 1 more year after surgery, the rib cartilage was still in position and rarely absorbed. The morphologic and volumetric difference between the affected side and the unaffected side was improved significantly postoperatively. All patients were satisfied with the results, and no more additional operations were required. The combinatorial surgery of rib cartilage graft and free adipofascial flap in the setting of three-dimensional planning and printing can be a good choice in restoring facial symmetry in severe cases of PHA. Therapeutic, IV.

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.

Moebius syndrome in association with hypogonadotrophic hypogonadism and focal motor demyelinating peripheral neuropathy with persistent conduction blocks

Congenital, non progressive facial paralysis and a restricted abduction of one or both eyes are symptoms of Moebius Syndrome (MBS) [1]. Peripheral neuropathy, Kallmann syndrome, intellectual disability, and social impairment are also evident in a subgroup of people with inherited congenital facial nerve atrophy and oculomotor nerve palsy [2].

Nonsurgical Reshaping of the Lower Jaw With Hyaluronic Acid Fillers: A Retrospective Case Series.

IntroductionNonsurgical aesthetic treatments of the lower face are increasing in demand. In particular, they aim to restore facial youth following the changes due to progressive resorption of facial skeleton and atrophy of facial fat compartments which give the perception of a descent face.ObjectivesThe aim of this research is to describe the nonsurgical reshaping of the aged lower jaw by means of hyaluronic acid fillers.MethodsA retrospective analysis of data from adult female patients undergoing treatment with hyaluronic acid injections in the lower third of the face was performed. Injection techniques, relevant anatomy of the anatomical area and rheological properties of the fillers to be used are highlighted.ResultsThirty-six consecutive patients were enrolled (100% female; mean age: 45.7 years). A minimum of 4 up to 7 vials of hyaluronic acid filler was injected to achieve the desired results. The visual analogue scale was used to assess patient satisfaction. Thirty-two patients (88.8%) rated their appearance post-treatment with a satisfaction score ranging between 85% and 100%. A total absence of ecchymosis and/or swelling in the early postoperative days has been highlighted. There were no cases of infection, paresthesia, hematoma or necrosis.ConclusionsFor those patients not willing to undergo surgery, the jawline remodelling with hyaluronic acid fillers seems to be a viable option for ameliorating the definition of the lower third of the face. Nonetheless, it is mandatory to perform multilayer injections using fillers with different rheological properties.

Connective Tissue Disease-Associated Deep Facial Atrophy Corrected With Soft Tissue Filler.

Connective Tissue Disease-Associated Deep Facial Atrophy Corrected With Soft Tissue Filler.

Efficacy and safety of thread embedding acupuncture for facial expression muscles atrophy after peripheral facial paralysis: study protocol for a randomized controlled trial

BackgroundFacial expression muscles atrophy is one kind of sequelae after peripheral facial paralysis. It causes critical problems in facial appearance of patient as well as social and psychological problems. This study aims to evaluate the efficacy and safety of Thread-embedding acupuncture (TEA) for the management of facial expression muscles atrophy after peripheral facial paralysis.MethodsThis is a patient-assessor blinded, randomized, sham-controlled trial. A total of fifty-six eligible patients will be randomly divided into TEA (n=28) and sham TEA (STEA) (n=28) groups. Both groups will receive TEA or STEA treatment at the frontal muscle and the depressor anguli oris muscle, at one predefined points once a week for eight weeks. Additionally, both groups will receive traditional acupuncture treatment at ten acupoints (GB20, LI4, LR3, GB12, ST7, SI18, LI20, BL2, SJ23, ST4) twice a week for eight weeks as a concurrent treatment. B-mode ultrasonography will be used to assess the changes in facial expression muscle thickness ratio of the affected/healthy side at baseline and at 10 weeks after screening, as the primary outcome. House-Brackmann Grade and lip mobility score will be measured and analyzed at baseline and 4, 8, 10, and 12 weeks after screening, as secondary outcomes.DiscussionThe study will compare TEA with sham TEA to explore the feasibility for TEA in improving facial expression muscles atrophy after peripheral facial paralysis.Trial registrationChinese Clinical Trial Registry, ChiCTR1900027170. Registered on 3 November 2019, http://www.chictr.org.cn/edit.aspx?pid=45173&htm=4

Novel use of poly-L-lactic acid filler for the treatment of facial cutaneous atrophy in patients with connective tissue disease.

Patients with connective tissue disease (CTD) often suffer from facial cutaneous defects and resultant facial asymmetry. Unfortunately, these issues have been known to be difficult-to-treat, and concern exists regarding the use of cosmetic procedures in this patient population due to the theoretical risk of disease flare-up or reactivation. Injectable poly-L-lactic acid (PLLA) is one type of filler that has been used to treat skin atrophy in patients with morphea and lupus erythematous panniculitis. However, overall, there is a dearth in literature regarding the safety and efficacy of PLLA filler in patients with CTDs. This case series intends to evaluate the safety and efficacy of PLLA filler in treating facial atrophy in patients with CTDs. Three patients underwent various treatment courses involving the use of PLLA filler to treat facial atrophy. Two patients demonstrated significant improvement in facial atrophy following their treatment course. No patient experienced reactivation or exacerbation of their CTD following PLLA injection. PLLA filler appears to have good viability as a safe and potentially effective treatment for facial atrophy in patients with CTDs.

The Risk of Conducting Overgrafting of Fat for Treating Facial Atrophy Induced by Localized Scleroderma.

The Risk of Conducting Overgrafting of Fat for Treating Facial Atrophy Induced by Localized Scleroderma.

A pilot study on ex vivo expanded autologous adipose-derived stem cells of improving fat retention in localized scleroderma patients.

In patients with localized scleroderma (LoS), facial deformity induced by subcutaneous atrophy greatly reduces life quality. Autologous fat grafting (AFG) is used for volume restoration but with low‐fat retention due to various reasons. Adipose‐derived stem cells (ADSCs) have shown potential effects in improving fat retention. We aimed to compare the feasibility and efficacy of improving fat retention in LoS patients among the ADSCs‐assisted, the stromal vascular fraction (SVF)‐assisted and conventional AFG methods. A pilot study with a 6‐month follow‐up among 18 LoS patients was conducted. Participants were randomly assigned into three AFG groups: conventional group, SVF‐assisted group, and ADSCs‐assisted group. The SVF‐assisted group received SVF‐assisted AFG at the SVF:fat ratio of 1:1. The ADSCs‐assisted group received the mixture of ADSCs‐enriched fat graft supplemented with 5 × 105 ADSCs/mL fat. Volume retention was measured by magnetic resonance imaging, and clinical photographs were taken for outcome evaluation. At sixth‐month follow‐up, the fat retention of ADSCs‐assisted group was 49.83 ± 3.61%, significantly higher than 31.75 ± 1.73% of SVF‐assisted group (P = .0004), and 21.86 ± 1.68% of the conventional group (P < .0001). A significant difference of the fat retention was also observed between the SVF‐assisted and conventional group (P = .0346). No severe adverse events occurred during the procedure and follow‐up. This pilot study suggests that ADSCs‐assisted AFG is a safe, feasible, and attractive alternative to conventional and SVF‐assisted AFG in the correction of facial atrophy of LoS patients. Future studies with large patient samples are needed for confirmation. (Chinese Clinical Trial Registry, ChiCTR1900025717).

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.

In recent years, the tropomyosin-receptor kinase fused gene (TFG) has been linked to diverse hereditary neurodegenerative disorders, including a very rare complex hereditary spastic paraplegia, named spastic paraplegia type 57 (SPG57). Until now, four pathogenic homozygous variants of the TFG gene have been reported associated with SPG57. Two consanguineous Iranian families (1 and 2), the first one with two affected members and the second one with one, all with an early-onset progressive muscle weakness, spasticity, and several neurological symptoms were examined via the whole-exome sequencing. Two homozygous missense variants including c.41A>G (p.Lys14Arg) and c.316C>T (p.Arg106Cys) have been found in the related families. The candidate variants were confirmed by Sanger sequencing and found to co-segregate with the disease in families. The bioinformatics analysis showed the deleterious effects of these nucleotide changes and the variants were classified as pathogenic according to ACMG guidelines. A comparison of the clinical presentation of the patients harboring c.41A>G (p.Lys14Arg) with previously reported SPG57 revealed variability in the severity state and unreported clinical presentation, including, facial atrophy, nystagmus, hyperelastic skin, cryptorchidism, hirsutism, kyphoscoliosis, and pectus excavatum. The affected member of the second family carried a previously reported homozygous c.316C>T (p.Arg106Cys) variant and displayed a complex HSP including optic atrophy. Remarkable clinical differences were observed between the family 1 and 2 harboring the c.41A>G (p.Lys14Arg) and c.316C>T (p.Arg106Cys) variants, which could be attributed to the distinct affected domains (PB1 domains and coiled-coil domains), and therefore, SPG57 might have been representing phenotype vs. variant position correlation.

A male child with parry romberg syndrome

Parry Romberg Syndrome (PRS) is a rare syndrome of unknown etiology. The most important features of this pathology are the one side facial atrophy, enophthalmy, the angle of the mouth and nose were a deviated to the affected side, and hyper-pigmented affected side. PRS is mostly misdiagnosed due to problem in recognizing its clinical features and the rarity of the disease. The diagnosis of PRS was made clinical. We present a nine-year-old boy, with the complaint of gradually progressive right side facial asymmetry with right thinning of face, the eyeballs were asymmetrical positioned and right side enopthalamus, the angle of mouth and nose were a deviated to the right side, and a big cutaneous linear dark pigmented scar was noticed on the right side of forehead, around the eye, nose, cheek, and chin. To our knowledge, there is no published large-scale clinical trial on the Parry Romberg Syndrome, there are few cases were published in the literatures. This is the first case of Parry Romberg Syndrome described in Iraq.

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

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. 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. Six patients underwent complete eye examinations. The mean spherical equivalent of the affected eye was + 3.83D, while that of the unaffected eye was + 0.13D. The atrophic hemiface averaged 2.8mm of enophthalmos on Hertel exophthalmometry. The axial length of the atrophic eye was 0.91mm 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. 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.