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The Journal of International Medical... Nov 2021Diffuse cutaneous systemic sclerosis may occur in women of childbearing age. Pregnancies in this population are associated with a markedly increased risk of adverse... (Review)
Review
Diffuse cutaneous systemic sclerosis may occur in women of childbearing age. Pregnancies in this population are associated with a markedly increased risk of adverse obstetric and maternal outcomes even before the onset of symptoms related to sclerosis. We report a case involving the management and outcome of pregnancy in a 30-year-old woman with diffuse cutaneous systemic sclerosis. The course of her pregnancy was good and was assisted by a group consultation including obstetricians and rheumatologists. Vaginal delivery was the patient's preferred choice because she had irregular skin tightness in her lower abdominal skin. She underwent induction of labor and combined spinal-epidural analgesia, and successfully delivered. Importantly, these pregnancies need to be planned, where possible, to allow the opportunity to counsel women and their partners in advance and to decrease any risks. These pregnancies should be considered high risk, and they require close antenatal monitoring and good supervision from an expert multidisciplinary team experienced in high-risk pregnancies. The management of delivery for patients with cutaneous systemic sclerosis is challenging, and vaginal delivery with labor analgesia is an alternative option to cesarean section.
Topics: Adult; Analgesia, Epidural; Cesarean Section; Delivery, Obstetric; Female; Humans; Labor, Obstetric; Pregnancy; Scleroderma, Diffuse
PubMed: 34851779
DOI: 10.1177/03000605211060160 -
Arthritis Research & Therapy Dec 2019Systemic sclerosis is a systemic connective tissue disease characterized by endothelium damage, fibrosis, and subsequent atrophy of the skin. Perioral fibrosis produces...
BACKGROUND
Systemic sclerosis is a systemic connective tissue disease characterized by endothelium damage, fibrosis, and subsequent atrophy of the skin. Perioral fibrosis produces a characteristic microstomia together with microcheilia, both of which cause severe difficulties and affects patients' daily life, such as eating and oral hygiene. Since there are no effective and specific therapies, we have aimed at evaluating the response to filler injections of hyaluronic acid together with platelet-rich plasma.
METHODS
Ten female patients aged between 18 and 70 were included in this study. Each patient was treated with three filler injections of hyaluronic acid and platelet-rich plasma at an interval of 15 to 20 days. Follow-up check-ups were recorded 1, 3, and 24 months after the end of the treatment. During the therapy and the subsequent follow-up, we evaluated the mouth's opening, freedom of movement of the lips, and skin elasticity.
RESULTS
After the treatment, patients had achieved good results already after the first injection and the improvement was maintained in the following months, up to 2 years. In particular, 8 (80%) patients showed a greater mouth's opening and increased upper lip's thickness during 1-month follow-up and maintained these results after 2 years (maximum mouth's opening T0 47.61; T3 49.23; T4 48.60 p < 0.0001. Upper lip's thickness T0 4.20; T3 4.75; T4 4.45 p < 0.0001). Moreover, distance between upper and lower incisors (T0 27.05; T3 29.03; T4 28.14 p < 0.0001), inter-commissural distance (T0 49.12; T3 51.44; T4 50.31: p < 0.0001), and lower lip's thickness (T0 3.80; T3 4.85, 5.10; T4 4.25; p < 0.0001) were increased in all of patients in 1-month follow-up, keeping these benefits after 24 months and having a significant increase of skin elasticity 1 month after the end of therapy.
CONCLUSIONS
Our study demonstrates that filler injections of hyaluronic acid and platelet-rich plasma represent an efficient local therapeutic alternative for patients affected by scleroderma. The treatment has significantly improved patients' quality of living.
Topics: Adult; Elasticity; Female; Humans; Hyaluronic Acid; Lip; Middle Aged; Platelet-Rich Plasma; Prospective Studies; Quality of Life; Scleroderma, Systemic; Skin; Treatment Outcome; Viscosupplements
PubMed: 31836018
DOI: 10.1186/s13075-019-2062-0 -
Srpski Arhiv Za Celokupno Lekarstvo 2011In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia....
INTRODUCTION
In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia. Wiedemann completed description of the new syndrome by adding umbilical hernia and macroglossia. The diagnosis is made based on the clinical signs of omphalocele or some other umbilical deformity, macroglossia, congenital asymmetry, visceromegaly (liver, pancreas, and kidneys).
CASE OUTLINE
A 16-month-old male child was admitted for examination because of macroglossia. He underwent examination on several occasions by an endocrinologist due to recurrent hypoglycaemic crisis. The patient was observed by a paediatric neurophysicatrist for disorders of mental development. Hypoglycaemia, muscular hypotonia of the anterior abdominal wall with umbilical hernia and macroglossia were observed by clinical examination. Inratraoral examination revealed macroglossia with microstomia, suckling and swallowing difficulties, hypotonia of the perioral muscles with increased salivation. It was therefore decided to perform surgical reduction of the prominent tongue and develop good condition for nutrition, speech function and the development of orofacial system.
CONCLUSION
The diagnosis of macroglossia is based on subjective clinical criteria such as the morphology and amount of protrusion of the tongue, difficulty in articulating sounds, breathing, and hypersalivation. Some authors have suggested that the tongue size may be analyzed radiographically with a cephalogram. Treatment of macroglossia is controversial because of the absence of objective clinical criteria.
Topics: Beckwith-Wiedemann Syndrome; Humans; Infant; Macroglossia; Male
PubMed: 21858977
DOI: 10.2298/sarh1106366k -
The Journal of Clinical Pediatric... May 2022The present case report highlights the management of a 6 years old female child who suffered oral and maxillofacial injury due to explosion of a fire cracker inside the...
The present case report highlights the management of a 6 years old female child who suffered oral and maxillofacial injury due to explosion of a fire cracker inside the mouth which was managed by primary closure after complete debridement and to prevent the post treatment microstomia, a modified microstomia prevention intraoral prosthetic appliance was given and followed up for 15 months.
Topics: Burns; Child; Face; Female; Humans; Maxillofacial Injuries; Microstomia
PubMed: 35830633
DOI: 10.17796/1053-4625-46.3.3 -
TheScientificWorldJournal 2014Squamous cell carcinoma is a common tumour of lower lip. Small defects created by surgical resection may be readily reconstructed by linear closure or with local flaps....
INTRODUCTION
Squamous cell carcinoma is a common tumour of lower lip. Small defects created by surgical resection may be readily reconstructed by linear closure or with local flaps. However, large tumours resection often results with microstomia and oral incompetence, drooling, and speech incomprehension. The goal of this study is to describe our experience with composite free radial forearm-palmaris longus tendon flap for total or near total lower lip reconstruction.
PATIENTS AND METHODS
This procedure was used in 5 patients with 80-100% lip defect resulting from Squamous cell carcinoma. Patients' age ranged from 46 to 82 years. They are three male patients and two female. In 3 cases chin skin was reconstructed as well and in one case a 5 cm segment of mandible was reconstructed using radius bone. In one case where palmaris longus was missing hemi-flexor carpi radialis tendon was used instead. All patients tolerated the procedure well.
RESULTS
All flaps totally survived. No patient suffered from drooling. All patients regained normal diet and normal speech. Cosmetic result was fair to good in all patients accept one.
CONCLUSION
We conclude that tendino-fasciocutaneous radial forearm flap for total lower lip reconstruction is safe. Functional and aesthetic result approaches reconstructive goals.
Topics: Aged; Aged, 80 and over; Dermatologic Surgical Procedures; Fasciotomy; Female; Forearm; Humans; Lip; Male; Middle Aged; Plastic Surgery Procedures; Skin; Surgical Flaps; Tendons
PubMed: 24672301
DOI: 10.1155/2014/219728 -
World Journal of Clinical Cases Aug 2021Moebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial...
BACKGROUND
Moebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial paralysis and eye strabismus paralytic symptoms. Tissues in the oral cavity are also compromised, characterized by microstomia, micrognathia, tongue malformation, cleft lip, high arched palate or cleft palate, bifid uvula, and dental malocclusion. Therefore, dentistry plays a fundamental and crucial role in caring for these individuals. However, there is limited available data on MBS treatment, particularly regarding dental management.
CASE SUMMARY
This case report presents dental treatment of a 21-year-old man with MBS and discusses crucial interactions among oral complications of MBS. In this case, the patient was clinically characterized by congenital neuromuscular disorder, occlusal disorders, and tooth and gum problems. It is noteworthy that the patient presented early eruption of deciduous teeth 2 mo after birth, which has not been reported in other MBS cases and suggests a potentially new clinical manifestation of this syndrome. It is important to note that MBS cannot be cured, and oral manifestations of this syndrome can be managed by a multidisciplinary health care team that helps the patient maintain oral hygiene and dental health. After a series of oral treatments, no obvious poor oral hygiene, swollen gums, or abnormal imaging results were observed after 2 years of follow-up.
CONCLUSION
This case addressed the oral clinical manifestations of MBS and difficulties experienced during dental management, and suggested early tooth eruption as a potentially new clinical manifestation of this syndrome. Knowledge of the loop-mediated association among oral complications of this syndrome is essential to perfecting treatments.
PubMed: 34540988
DOI: 10.12998/wjcc.v9.i24.7269 -
Genes Dec 2021We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple... (Review)
Review
We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26-q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy's phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.
Topics: Abnormalities, Multiple; Adult; Chromosome Deletion; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 4; Female; Humans; Infant, Newborn; Male; Phenotype; Prognosis; Translocation, Genetic; Trisomy
PubMed: 34946906
DOI: 10.3390/genes12121957 -
Romanian Journal of Morphology and... 2014Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18... (Review)
Review
Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection rate of chromosomal abnormalities is high, the birth of children with no real chance at a normal life being thus avoided by therapeutic abortion, the parents of the here presented child did not benefit from medical examination or prenatal tests, unfortunately the case of many families in Romania. The policy of limiting medical intervention in newborns with Edwards syndrome due to the broad spectrum of severe congenital malformations, severe mental retard and reduced life expectancy is unanimously accepted, but yet difficult to apply from an ethical point of view. That is why very important for both healthcare providers and families to have accurate and detailed knowledge of survival, disease course, and quality of life so that they can make fully informed decisions regarding care of these babies. The particularity of this case is the association of multiple congenital anomalies in a male newborn with trisomy 18, almost all apparata and systems being affected, with the presence of an omphalocele and complete right labiopalatine cleft, which are less frequent at children with trisomy 18.
Topics: Abnormalities, Multiple; Calcinosis; Chromosomes, Human, Pair 18; Ear, External; Heart Defects, Congenital; Hematopoiesis; Hernia, Umbilical; Humans; Hyperplasia; Jaw Abnormalities; Male; Microstomia; Trisomy; Trisomy 18 Syndrome
PubMed: 24715190
DOI: No ID Found -
Journal (Canadian Dental Association) Nov 2007Scleroderma, or progressive systemic sclerosis (PSS), an autoimmune rheumatic condition affecting the connective tissues, has a profound impact on oral health. Common... (Review)
Review
Scleroderma, or progressive systemic sclerosis (PSS), an autoimmune rheumatic condition affecting the connective tissues, has a profound impact on oral health. Common orofacial findings include xerostomia, gastroesophageal reflux disease and limited mouth opening. This review article describes scleroderma, or PSS, and its various manifestations. The features of CREST syndrome and morphea are reviewed. Concerns relevant to the prevention of dental disease and the safe delivery of dental care in this group of challenging patients are emphasized.
Topics: Acute Kidney Injury; Alveolar Bone Loss; Dental Care for Chronically Ill; Diagnosis, Differential; Facies; Gastroesophageal Reflux; Humans; Hypertension, Pulmonary; Microstomia; Scleroderma, Systemic; Xerostomia
PubMed: 18028759
DOI: No ID Found -
Dental Research Journal 2020Microstomic patients may experience a significant limitation in the mandibular opening. The prosthetic rehabilitation of microstomic patients presents difficulties at...
Microstomic patients may experience a significant limitation in the mandibular opening. The prosthetic rehabilitation of microstomic patients presents difficulties at all stages, from preliminary impressions to prosthetic fabrication. This clinical report described the method of fabrication of sectional denture for patients with microstomia caused by burns. The denture was fabricated in two pieces, and patients inserted and removed the denture easily.
PubMed: 32435440
DOI: No ID Found