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Life (Basel, Switzerland) Nov 2023Systemic sclerosis (SSc) or scleroderma is a rare, systemic, autoimmune connective tissue disease. It causes increased collagen synthesis, leading to multi-organ...
Systemic sclerosis (SSc) or scleroderma is a rare, systemic, autoimmune connective tissue disease. It causes increased collagen synthesis, leading to multi-organ sclerosis, including the skin and joints. Patients' overall health and quality of life are harmed dramatically. Involvement of the face and, especially, the oral opening can limit patients' ability to speak and eat, oral hygiene, and cosmetic appearance. Profhilo (NAHYCO) is an over-the-counter product consisting of pure hyaluronic acid. It is used to improve skin quality by increasing collagen production and adipocyte vitality. This interventional study evaluated the results of perioral injections of hyaluronic acid in terms of improved skin quality, elasticity, and increased oral opening. Patients diagnosed with SSc received an injection of one syringe of Profhilo (2 mL of hyaluronic acid) at each of two clinic visits at one-month intervals. The oral opening was measured between the upper and lower central incisors before and after treatment. Quality of life was assessed using the modified Rodnan Skin Score and Health Assessment Questionnaire-Disability Index. A total of 14 patients received the first treatment, and 11 received the second treatment. The mean oral opening increased from 31.6 mm (range 17-50 mm) prior to therapy to 35.8 mm (range 21-56) 2 months following the second injection. Statistical analysis showed that there was a significant increase in the oral opening as observed one week (36.2 mm, = 0.011), one month (36.2 mm, = 0.007), and three months (31.6 mm, = 0.023) after the second injection, at the 5-month follow-up. Treatment of SSc patients' perioral area with Profhilo can result in significant improvements in oral opening and quality of life.
PubMed: 38004316
DOI: 10.3390/life13112176 -
Case Reports in Dentistry 2012Microstomia may result from surgical treatment of orofacial neoplasms, cleft lips, maxillofacial trauma, burns, radiotherapy, or scleroderma. A maximal oral opening that...
Microstomia may result from surgical treatment of orofacial neoplasms, cleft lips, maxillofacial trauma, burns, radiotherapy, or scleroderma. A maximal oral opening that is smaller than the size of a complete denture can make prosthetic treatment challenging. This clinical paper presents the prosthodontic management of a total edentulous patient with microstomia. Sectional mandibular and maxillary trays and foldable mandibular and maxillary denture were fabricated for the total edentulous patient.
PubMed: 22957279
DOI: 10.1155/2012/757025 -
Molecular Genetics & Genomic Medicine Apr 2020Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia,...
BACKGROUND
Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as skeletal and limb development, were identified to be causal for the anomaly in a few patients.
METHODS
Family-based exome sequencing (ES) on a fetus with severe agnathia-otocephaly, cheilognathopalatoschisis, laryngeal hypoplasia, fused lung lobes and other organ abnormalities and mRNA expression analysis were performed.
RESULTS
Exome sequencing detected a de novo SMAD3 missense variant in exon 6 (c.860G>A) associated with decreased mRNA expression. Variants in SMAD3 cause Loeys-Dietz syndrome 3 presenting with craniofacial anomalies such as mandibular hypoplasia, micro- or retro-gnathia, bifid uvula and cleft palate as well as skeletal anomalies and arterial tortuosity. The SMAD3 protein acts as a transcriptional regulator in the transforming growth factor β (TGFB) and bone morphogenetic (BMP) signaling pathways, which play a key role in the development of craniofacial structures originating from the pharyngeal arches.
CONCLUSION
Agnathia-otocephaly with or without associated anomalies may represent the severe end of a phenotypic spectrum related to variants in genes in the interacting SMAD/TGFB/BMP/SHH/FGF developmental pathways.
Topics: Craniofacial Abnormalities; Fetus; Genetic Testing; Humans; Loss of Function Mutation; Phenotype; Smad3 Protein; Ultrasonography, Prenatal; Exome Sequencing
PubMed: 32100971
DOI: 10.1002/mgg3.1178 -
Translational Pediatrics Aug 2021Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion (synotia), and...
Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. It can occur alone or in combination with forebrain anomalies and cardiac malformations and has an extremely poor prognosis. Here, we report a case of AOC diagnosed by systemic fetal screening at a gestational age of 25 weeks. Ultrasound revealed that the S-curve formed by the normal lower jaw and lower lip had disappeared, the lower jaw and mandible were invisible, the mouth was extremely small, and the oral fissure was "pinhole-shaped". There was a cone-shaped perioral bulge. Both ears were located in the front side of the neck, and the right foot was inverted. Excessive amniotic fluid was observed. The absence of a mandible was confirmed on X-ray examination after induced abortion. Specimen observation showed that the ear positions were extremely low, and both earlobes were connected in the front side of the neck. It was particularly challenging to identify the development of the mandible and locate auricles during prenatal ultrasound diagnosis, and the prenatal diagnosis of AOC was confirmed by combining two-dimensional and three-dimensional ultrasound in our current case.
PubMed: 34584884
DOI: 10.21037/tp-21-235 -
BMJ Case Reports Apr 2022The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised...
The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios.
Topics: Craniofacial Abnormalities; Female; Humans; Imaging, Three-Dimensional; Infant, Newborn; Jaw Abnormalities; Polyhydramnios; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 35459654
DOI: 10.1136/bcr-2022-249276 -
BMJ Case Reports Aug 2017Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye...
Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malformation of the first branchial arch characterised by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). These two reported cases had in common a single eye and alobar HPE. The first case was live born and the second stillborn. Both mothers did not have antenatal care.
Topics: Craniofacial Abnormalities; Ear, External; Female; Holoprosencephaly; Humans; Infant, Newborn; Jaw Abnormalities; Live Birth; Microstomia; Stillbirth
PubMed: 28855214
DOI: 10.1136/bcr-2017-220159 -
Archives of Craniofacial Surgery Apr 2020Stevens-Johnson syndrome (SJS) is a rare disease in which extensive toxic epidermolysis occurs after medication. Skin and mucous membranes are involved in about 90% of...
Stevens-Johnson syndrome (SJS) is a rare disease in which extensive toxic epidermolysis occurs after medication. Skin and mucous membranes are involved in about 90% of SJS cases, and webbing of mouth corners (microstomia) may occur when they are affected. Few reports have been issued on microstomia in SJS, and no consensus has been reached regarding treatment methods, timings, or results. We encountered a case of microstomia following SJS after ofloxacin medication in a 22-year-old woman treated by commissuroplasty using a lozenge-shaped excision. We present an appropriate correction method and surgical timing for microstomia following SJS.
PubMed: 32380813
DOI: 10.7181/acfs.2019.00759 -
Clinical Case Reports Jul 2023Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies,...
Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
PubMed: 37448946
DOI: 10.1002/ccr3.7678 -
Acta Veterinaria Scandinavica Jan 2020Otocephaly is a rare lethal malformation of the first branchial arch. While the knowledge on the causes of otocephaly in animals is limited, different syndromic forms in...
BACKGROUND
Otocephaly is a rare lethal malformation of the first branchial arch. While the knowledge on the causes of otocephaly in animals is limited, different syndromic forms in man are associated with variants of the PRRX1 and OTX2 genes.
CASE PRESENTATION
A stillborn male lamb of the Istrian Pramenka sheep breed showed several congenital craniofacial anomalies including microstomia, agnathia, aglossia, and synotia. In addition, the lamb had a cleft palate, a small opening in the ventral neck region, a cystic oesophagus and two hepatic cysts. The brain was normally developed despite the deformed shape of the head. Taken together the findings led to a diagnosis of otocephaly. Whole-genome sequencing was performed from DNA of the affected lamb and both parents revealing a heterozygous single nucleotide variant in the OTX2 gene (Chr7: 71478714G > A). The variant was absent in both parents and therefore due to a de novo mutation event. It was a nonsense variant, XM_015097088.2:c.265C > T; which leads to an early premature stop codon and is predicted to truncate more than 70% of the OTX2 open reading frame (p.Arg89*).
CONCLUSIONS
The genetic findings were consistent with the diagnosis of the otocephaly and provide strong evidence that the identified loss-of-function variant is pathogenic due to OTX2 haploinsufficiency. The benefits of trio-based whole-genome sequencing as an emerging tool in veterinary pathology to confirm diagnosis are highlighted.
Topics: Animals; Craniofacial Abnormalities; Genetic Variation; Mutation; Otx Transcription Factors; Sheep; Sheep Diseases
PubMed: 31969185
DOI: 10.1186/s13028-020-0503-z -
Experimental and Therapeutic Medicine Dec 2022Microscopic polyangiitis (MPA) is a rare, idiopathic, autoimmune, systemic disease that most frequently involves the kidneys. The present study reports the case of a...
Microscopic polyangiitis (MPA) is a rare, idiopathic, autoimmune, systemic disease that most frequently involves the kidneys. The present study reports the case of a 48-year-old female patient who presented with diffuse myalgia, arthralgia of both hands and feet for 2 weeks before being admitted to the hospital. The patient exhibited involuntary loss of weight and occasional slight fever. Physical examination noted microstomia and perioral radial furrows, slight skin induration of the hands, discrete cyanotic skin areas on the dorsal side of both feet. The patient also presented bilateral crepitant rales. Laboratory findings at admission revealed non-specific biological inflammatory syndrome consisting of high erythrocyte sedimentation rate and high C-reactive protein. The patient was initially suspected of systemic sclerosis due to the appearance of microstomia and the slight skin induration of the hands with diffuse arthralgia and myalgia, although with negative immune tests (anti-SCL70 and anti-centromere B antibodies) and normal nailfold capillaroscopy. Instead, a high titer of MPO-ANCA was detected. The computerized tomography scan revealed early diffuse interstitial lung disease (ILD). Cases of MPA with pulmonary involvement, such as ILD before the onset of vasculitis or kidney involvement, are known. Therefore, the diagnosis of MPA was formulated considering the symptoms, the clinical examination and the high titer of MPO-ANCA. The particularity of the present case consists in the uncommon onset with atypical skin changes, positivity to MPO-ANCA, absent renal dysfunction and ILD involvement.
PubMed: 36420356
DOI: 10.3892/etm.2022.11668