ABSTRACT
Objectives: A 14-year-old female patient presents with marked haemorrhagic, adherent crusting of the upper and lower lip and enoral vesicles and erosions. Two weeks before, she had suffered from a respiratory tract infection. She did not take antibiotics but ibuprofen. One week later, she described a swelling and crusting of the upper and lower lips. Urogenital mucosa was also erosive. There was no ocular involvement. Another week later, cocard-like single lesions with partly central blister formation developed. A flaccid blister of 15 mm in diameter was detected in the left ear helix. In total, there was a limited cutaneous involvement of <10% BSA. The girl was admitted to the paediatric clinic. Method(s): Due to mucocutaneous eruptions, bullous lesions and multimucosal involvement, we assumed a Steven-Johnson syndrome or reactive infectious mucocutaneous eruption (RIME). Intravenous rehydration and prophylactic administration of cefotaxime and aciclovir were given. She was balanced and given analgesia with novalgin. The recent increased intake of ibuprofen was discontinued. Local therapy included mometasone cream and serasept dressings. During the inpatient stay, the general condition stabilised and the skin efflorescence's showed a clear regression. Result(s): The microbiological smears for COVID-19, HSV, VZV, mycoplasma, and chlamydia were negative. Discussion(s): As adult classifications for blistering severe cutaneous adverse reactions are limited applicable in children, Ramien et al. proposed revised paediatric-focused clinical criteria 2021. They leave traditional definitions of EEM, SJS and TEN. But they distinguish erythema multiforme (EM) for classic targets with/without mucosal involvement, RIME for cases with mucosal predominance and a respiratory infection trigger, and drug-induced epidermal necrolysis (DEN) for cases caused by medications. (Ramien BJD 2021) There are no current guidelines for RIME therapy. A reasonable management approach includes symptomatic therapy, treatment of identifiable infectious triggers (if possible), consulting urologists, ophthalmologists and gynaecologists (if necessary), immunosuppression, and psychological support. (Ramien ClinExpDermatol 2021).
ABSTRACT
Case report Background: Delayed hypersensitivity reactions to hyaluronic acid fillers are usually self-limiting and uncommon, and spontaneous resolution is frequent. These are presumably T-lymphocyte- mediated reactions that can be caused by flu-like infections and vaccinations. A delayed hypersensitivity reaction after hyaluronic acid filler following the mRNA vaccine against coronavirus has already been described in the literature. We wish to present a case that followed the ChAdOx1-s recombinant COVID-19 vaccine produced by Oxford/ AstraZeneca. Case report: Female patient, 61 years old, submitted to filling of the nasojugal sulcus and nasolabial fold with 1 ml of cross-linked hyaluronic acid -15 mg/ml and after 5 days filling in the lips with 1 ml of cross-linked hyaluronic acid -12 mg/ml, dermatological office, under aseptic technique and using cannulas. It evolved with ecchymosis on the lips and nasolabial folds, with spontaneous resolution after about a week. Sixteen weeks after the procedure, she received the first dose of the ChAdOx1-s recombinant COVID-19 vaccine, and 11 weeks later, the second dose. After 30 days of the 2nd vaccine dose, asymptomatic nodules appeared distributed in the upper and lower portions of nasolabial folds, in melomentonian grooves, in the supralabial region, in the upper and lower lip in the right and left lateral portions and in the infralabial region in the left lateral portion, coinciding with the topographies of the populated areas. Ultrasonographic evaluation with Doppler confirmed these findings. At the time, she denied fever or previous infectious signs or symptoms. Previously, the patient had already been submitted to the filling of the nasojugal and nasolabial folds with a hyaluronic acid-based filler (1 ml), 29 months before the current procedure, without intercurrences. After the appearance of the nodules, she underwent treatment with prednisone 40mg for 15 days, with total weaning after another 15 days, in addition to the use of levoceritizine 5 mg daily for 20 days, with partial reduction in the size of the nodules. Due to aesthetic complaints on the part of the patient, an intralesional injection of hyaluronidase was scheduled, but it was not performed at the request of the patient herself, who opted for expectant management and clinical treatment. In October 2021, the patient reported that the nodules had involuted and in December 2021 she remained asymptomatic, referring to resorption of the entire filler.
ABSTRACT
The aim is to determine oral manifestations in patients with COVID-19 disease and in the postcovid period. Methods: A special survey (questionnaire) was made in 424 people who had COVID-19 confirmed by RT-PCR, ELISA for specific IgM and IgG antibodies and Chest CT scan (168 people). 123 people had complaints and clinical symptoms in the oral cavity 2-6 months after the illness and they came to the University dental clinic. Laboratory tests have been performed (clinical blood test, blood immunogram, virus and fungal identification). Results: Survey results showed that 16,0% participants had asymptomatic COVID-19, 23,6% - mild and 48,1% moderate disease. 12,3% with severe COVID-19 were treated in a hospital with oxygen support. In the first 2 weeks 44,3% indicated xerostomia, dysgeusia (21,7%), muscle pain during chewing (11,3%), pain during swallowing (30,2%), burning and painful tongue (1,9%), tongue swelling (30,2%), catharal stomatitis (16,0%), gingival bleeding (22,6%), painful ulcers (aphthae) (8,5%) and signs of candidiasis - white plaque in the tongue (12,3%). After illness (3-6 months), patients indicated dry mouth (12,3%), progressing of gingivitis (20,7%) and periodontitis (11,3%). In patients who applied to the clinic we identified such diagnoses: desquamative glossitis - 16 cases, glossodynia (11), herpes labialis and recurrent herpetic gingivostomatitis (27), hairy leukoplakia (1), recurrent aphthous stomatitis (22), aphthosis Sutton (4), necrotising ulcerative gingivitis (13), oral candidiasis (14), erythema multiforme (8), Stevens-Johnson syndrome (2), oral squamous cell papillomas on the gingiva (4) and the lower lip (1). According to laboratory studies, virus reactivation (HSV, VZV, EBV, CMV, Papilloma viruces) was noted in 52 patients (42,3%), immunodeficiency in 96 people (78,0%), immunoregulation disorders (allergic and autoimmune reactions) in 24 people (19,5%). Conclusions: Lack of oral hygiene, hyposalivation, vascular compromise, stress, immunodeficiency and reactivation of persistent viral and fungal infections in patients with COVID-19 disease are risk factors for progression of periodontal and oral mucosal diseases.
ABSTRACT
Background: Freeman-Sheldon syndrome [distal arthrogryposis type 2A (OMIM #193700), DA2A, Freeman-Burian syndrome] is a rare autosomal dominant multiple pterygium syndrome caused by alterations in MYH3. The phenotypic features, particularly of the face, are distinct and easily recognizable, and the diagnosis can be confirmed with molecular gene analysis. Fetal ultrasound imaging may provide important diagnostic clues to facilitate the diagnostic process. Informed consent and parental permission were provided by the parents. Case presentation: The infant’s mother presented for a Maternal Fetal Medicine genetic counseling telehealth appointment (due to COVID-19 pandemic restrictions) as a G7P2132, 32-year old female who had insulin-dependent diabetes and thrombocytosis. Her partner was a 24-year old male with a history of hearing loss, a V-shaped palate, and a lower lip cleft. Gestational age was 14 4/7 weeks and the indications were: increased nuchal translucency, paternal complex medical history, maternal G6PD heterozygote, and recurrent pregnancy loss. During the genetic counseling session, the following were addressed: 1) Maternal heterozygote status for G6PD indicated that if the fetus was male, there was a 50% chance he would be affected with G6PD-deficiency;2) Increased nuchal translucency on fetal ultrasound (US) with measurement at 98th percentile is associated with an increased risk of chromosomal abnormalities, microdeletion/duplications, and Noonan syndrome. The patient reportedly had low risk cell-free DNA but results were not available to the counselor at the time of consult. The option for additional genetic screening and diagnostic testing was declined;3) Three first trimester pregnancy losses with the father of this baby (FOB) were addressed, and parents deferred chromosome analyses at the time;4) Mother shared FOB’s complex history of bilateral sensorineural hearing loss, V-shaped cleft palate, lower lip cleft, and micrognathia. However, father was not present during the telehealth encounter. Mother was counseled regarding the possibility of an autosomal dominant condition with the potential risk to the pregnancy of up to 50%. It was recommended that the FOB have a clinical genetics evaluation, which could potentially provide a specific diagnosis and inform recurrence risk and management guidance. Follow-up MFM genetic counseling telephone visit occurred with the mother at 31 6/7 weeks gestation due to multiple congenital anomalies evident on fetal ultrasound. A 25 week fetal ultrasound revealed hypotelorism and a thickened nuchal translucency. A repeat study at 29 weeks revealed a V-shaped palate with a possible cleft, micrognathia, and midline mandibular cleft. FOB’s history was revisited. It was determined that he had 3 previous “no shows” to Genetics clinic appointments and did not pursue evaluation after the last counseling appointment. Again, it was emphasized that in order to best make a diagnosis for the family, an affected person would need to undergo a thorough evaluation, including medical and family history review, physical examination, and any indicated genetic testing. The parents were comfortable with the likelihood that the baby had the same condition as the father, but variable expressivity and broad range pf phenotypic presentation were explained. Recommendations for postnatal evaluation of the infant and pertinent genetic testing were provided. Consultative Genetics evaluation of the infant at 2 days of age revealed a short, broad forehead with supraorbital fullness leading to a horizontal brow indentation;mask-like facial appearance;hypotelorism;very deep set eyes with blepharophimosis;deep, creased nasal bridge;small, upturned nose with hypoplastic alae and narrow nares;microstomia with pursed lips;glossoptosis;micrognathia;2 deep vertical chin creases;short neck with excess nuchal skin;inverted and wide spaced nipples;clenched hands with 5th digits overlying 4th and 2nd overlying 3rd, bilaterally;bilateral vertical talus;2nd toes longer and overlying rd toes;clinodactyly of 4th and 5th toes bilaterally;and deep gluteal crease with no visible sinus. There were no evident contractures. The father has a complex history with no medical assessments prior to age 18. He reported that he did “not look like anyone else” in his family. He has a diagnosis of autistic spectrum disorder, a submucous cleft, vision issues, hearing loss necessitating a hearing aid on the left, and a history of cholesteatomas and of mastoidectomy. On brief examination, he had a mask-like face, blepharophimosis, left microphthalmia, left esotropia, narrowing of his midface, deep vertical crease on the mandibular region, microstomia, broad great toes, single flexor creases on the thumbs, and contracture of right thumb. Maxillofacial CT of the infant revealed hypoplastic mandibular body, ramus, and condyles bilaterally with micrognathia and retrognathia;hypoplastic maxilla bilaterally;and enophthalmos with retracted appearance of globes in the bony orbits bilaterally. Multiple facial bone abnormalities were seen, including microsomia, micrognathia, retrognathia, orbital hypotelorism and enophthalmos Genetic testing was performed via a custom Whole Exome Slice at GeneDx laboratories and included the MYH3 and TNNI2 genes. Results revealed a heterozygous pathogenic change in MYH3 (c.2015 G>A;p. R6724) consistent with the diagnosis of Freeman-Sheldon syndrome. Conclusion: The presentation of “midline mandibular cleft” on fetal ultrasound was the most specific prenatal finding. This is a very rare fetal finding. Thus, it should prompt further evaluation to assess for true clefting versus ridging or creasing. Additionally, targeted assessment for other findings or clinical clues for Freeman-Sheldon syndrome, such as contractures, “windmill vane” hand, and mouth size, could aid in the differential diagnosis considerations and the diagnostic process. Admittedly, these are position and quality dependent, and are challenging to assess even in ideal situations. The phenotype of the father was immediately recognizable. However, due to COVID-19 pandemic restrictions, prior to the infant’s birth, only telehealth visits were conducted and the father’s participation was by telephone. This limited the ability to narrow the differential diagnosis without visualization of his distinct phenotypic features. Finally, missed opportunities to diagnose the father prior to this pregnancy occurred. Many clinics send “no show” letters to referring providers and patients, as we do. Emphasizing the importance of diagnosis prior to pregnancy for individuals concerned about having a genetic disorder should be considered as part of the information shared in these letters.