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Continuous positive airway pressure masks for breathing assistance are used widely during the coronavirus pandemic. Nonetheless, these masks endanger the viability of facial tissues even after a few hours because of the sustained tissue deformations and extreme microclimate conditions. The risk of developing such device-related pressure ulcers/injuries can be reduced through suitable cushioning materials at the mask-skin interface, to alleviate localised contact forces. Here, we determined the facial tissue loading state under an oral-nasal mask while using hydrogel-based dressing cuts (Paul Hartmann AG, Heidenheim, Germany) for prophylaxis, which is a new concept in prevention of device-related injuries. For this purpose, we measured the compressive mask-skin contact forces at the nasal bridge, cheeks, and chin with vs without these dressing cuts and fed these data to a finite element, adult head model. Model variants were developed to compare strain energy densities and effective stresses in skin and through the facial tissue depth, with vs without the dressing cuts. We found that the dry (new) dressing cuts reduced tissue exposures to loads (above the median loading level) by at least 30% at the nasal bridge and by up to 99% at the cheeks, across the tissue depth. These dressing cuts were further able to maintain at least 65% and 89% of their protective capacity under moisture at the nasal bridge and cheeks, respectively. The hydrogel-based dressings demonstrated protective efficacy at all the tested facial sites but performed the best at the nasal bridge and cheeks, which are at the greatest injury risk.

Chronic tophaceous gout is a common disease but rarely found in the head and neck region. Here we report a case of a middle aged male who presented with a mass over the right side of the nasal bridge. CT of the paranasal sinuses revealed a tophi lesion in the right nasal bridge with erosion of the underlying nasal bone. The mass was excised and histologically confirmed to be a gouty tophus. This case report illustrates how a common disease presented in an uncommon location could pose a diagnostic challenge.

Nasal glioneuronal heterotopia (NGH) is an uncommon developmental abnormality of the nasal cavity or paranasal soft tissue. Few detailed histologic studies of NGH exist, and molecular analyses have not been performed to date. We describe six cases of pediatric NGH and two representative encephaloceles encountered in our practice over the past 20 years. Two clinically distinct patient groups were noted, those with 1) intranasal nasal cavity mass (n = 3), or 2) extranasal cutaneous mass on the nose (n = 3, 1 on nasal apex, 2 on nasal bridge). Intranasal cases presented within the first week of life, whereas the extranasal NGH presented at ages of 4, 7, and 8 months. Resection was curative in 5/6 cases, with a single case showing local recurrence. Histologic examination showed a predominantly glial cell composition, with nests of GFAP-immunoreactive neuropil containing large, often multinucleated astrocytes. Neurons, although difficult to identify on H&E-stains, were readily observed in all cases by NeuN-immunostain. At least focal leptomeninges were noted in 2/3 intranasal and 1/3 extranasal NGHs on routine histology, SSTR2A immunohistochemistry further confirmed leptomeninges/ arachnoid cells in 4/6 cases. 1 of 4 NGH (extranasal) cases showed copy number variations in chromosome 16, 17 and 19, which were also present in 1/2 encephalocele cases. The full significance of these alterations remains unknown. We find evidence of histologic overlap between NGH and encephalocele, and, for the first time, report molecular alterations shared between the two entities, suggesting that these conditions may represent spectrum of the same histopathologic entity.

The current case report describes acute unilateral vision loss and bilateral cerebral infarction as devastating complications following cosmetic injection of hyaluronic acid to the nasal bridge in a 34-year-old female. The patient reported the onset of sudden eye pain, headache, and vision loss in her right eye. At the initial visit to the hospital, the patient had no light perception in the right eye. Examinations revealed marked ptosis and complete ophthalmoplegia with no proptosis. At the time of the patient's hospital evaluation, computed tomography, and magnetic resonance imaging were ordered. Few mottled materials (denser than blood) were observed in the cavernous sinus with a density of 106 Hounsfield units (HU), yet no air was depicted in the cavernous sinus. MRI scan revealed multiple areas of bilateral intracranial infarcts. Although cosmetic injection of hyaluronic acid has been documented as a safe procedure, vision loss remains one of the most feared complications.

Excessive breeding of dogs has led to a disadvantageous morphology in some breeds, for example extreme brachycephaly, which is responsible for many health issues. We hypothesize that alterations of the mimic muscular system are present in brachycephalic dogs and could contribute to behavioural problems due to a restricted mimic display. Therefore, the purpose of this paper was to compare the mimic muscular systems of brachycephalic with dolichocephalic dogs. Mimic muscles were measured and set in ratio to measurements of the head and calculated indices. When bringing the length of the muscles m(x) in proportion to the length of the head, highly significant differences (p

PURPOSE To review the results of medial canthal reconstruction with the medial (transnasal or transglabellar) semicircular flap. METHODS Medical charts of 38 patients who underwent the described procedure were reviewed. After tumor excision, a semicircular flap created along the nasal bridge or glabella was advanced to the canthal defect; if necessary, this flap was combined with other reconstructive methods. RESULTS The patients (19 male, 19 female; mean age, 66 years) had basal cell (n = 36) or squamous cell (n = 2) carcinomas. The mean tumor diameter was 9.2 mm (range, 3-21 mm). Tumor epicenters were in the midcanthal area in 21 patients (55%) and in the infra- or supracanthal areas in 17 patients (45%). After excision, 22 patients had only canthal defects, and 16 had an associated upper and/or lower eyelid defect. To cover the defect, the medial semicircular flap alone was used in 19 patients (50%) and in association with other flaps in 19 patients (50%). The excisional defect was primarily closed in 37 patients (97%). Flap necrosis or infection did not occur. During follow-up (range, 1-91 months; median, 19 months), 10 patients (26%) developed a total of 17 complications. Three patients (8%) required secondary surgery for eyelid reconstruction-related complications. CONCLUSIONS Transnasal or transglabellar semicircular flap may be a good alternative for medial canthal reconstruction. For large or complex defects, the medial semicircular flap can be combined with other periocular flaps. In the latter case, postoperative complications requiring secondary surgery may develop.

Antecedentes: El síndrome de Apert también denominado acrocefalosindactilia tipo I, se caracteriza por la triada clínica de: craneosinostosis, dismorfismo craneofacial, sindactilia bilateral de manos y pies; presenta herencia autosómica dominante ligada a mutaciones en el gen del receptor del factor de crecimiento de fibroblastos (FGFR), la mutación del receptor 2 del FGFR induce la activación de múltiples vías de señalización que contribuyen a la función anómala de los osteoblastos. Reporte de caso: Se describe el caso de un niño de 8 años diagnosticado por las características fenotípicas, mostrando la triada característica, además turri-braquicefalia, protuberancia frontal, depresión del puente nasal, hipoplasia del tercio medio facial, proptosis ocular bilateral, arco palatino alto, apiñamiento dental y maloclusión. Conclusiones: Las múltiples afectaciones en el paciente con síndrome de Apert, hace de esta una patología que requiere un diagnóstico e intervención precoz por un equipo multidisciplinario a fin de mejorar la calidad de vida.

Prader-Willi Syndrome (PWS) is a rare autosomal dominant disorder on the 15q11.2-q13 chromosome. PWS may impact metabolic, endocrine, and neurologic systems and combine with hypotonia, sleep disturbances, cognitive disability, central adrenal insufficiency, hypothyroidism, hypogonadism, short stature, and other diseases. Here ,we report a PWS patient with secondary diabetes mellitus. Clinical and laboratory features are summarized. The patient had typical manifestations of PWS including almond-shaped eyes, narrow temples, narrow nasal bridge, and short hands and feet. Lab test revealed hypogonadism and growth hormone deficiency. SNP array revealed one copy of chromosome 15 q11.2q13.1 was missing, with a length of about 6.4 mbp. This case emphasizes the importance of considering PWS in the differential diagnosis of an adolescent with diabetes. Antenatal history of neonatal hypotonia and childhood history of feeding disorder are the keys to the diagnosis of PWS.

Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

Nasal bridge is a common site suffering personal protective equipment-induced skin damages over face among first-line health care workers in this coronavirus disease 2019 pandemic. We hereby report folliculitis as a complication following regular use of N95 respirator and goggles, unreported in literature till now.

Mucinous carcinoma is a rare appendage tumor that is resistant to surgery, chemotherapy, and radiotherapy. It has an unremarkable appearance and must be distinguished as a primary tumor or as a metastasis from distant sites. Detailed imaging studies and immunohistochemical investigation are often essential. Here, we report a case of surgery-refractory primary mucinous carcinoma on the left nasal bridge in a 62-year-old female that ultimately required removal by Mohs surgery.

The aim of this case report is to present a case of nasal adenocarcinoma in a young adult cat with underlying feline asthma. A4-year-old, 2.3 kg, female Oriental Shorthair was referred to Massey University Veterinary Teaching Hospital with a rapidlyexpanding mass on its left nasal bridge and nasal discharge. Physical examination revealed stertorous respiratory sounds and amass on the left nasal bridge measuring 3.2 cm x 2.5 cm. Computed tomography of the nasal cavity showed mass effect in theleft frontal sinus with extensive orbital bone lysis and loss of calvarial bone. Radiographs of the thorax showed possibleevidence of metastasis. Fine needle aspirate was performed on the mass and also regional lymph nodes. Subsequently, nasaladenocarcinoma was diagnosed through cytology. Prognosis of the patient was poor as the patient’s condition was significantlycomplicated by asthma and possible lung metastasis. Palliative treatment was pursued using meloxicam as radiotherapy wasnot a viable option in this case. Keywords: Cat; Computed Tomography; Metastasis; Nasal adenocarcinoma

Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2.7-3:1. The case reported in the present study was a 13-week-old male fetus 30 g in weight with a macerated appearance. The upper extremities had a relatively normal appearance but the lower extremities were conjoined and there was a single lower extremity consisting of conjoined feet and toes. In the face, the nasal bridge was sunken, the ears had a low position, and there were cleft palate and cleft lip. Examination of the external genital organs revealed that the penile part was in the anal region. There was no anus opening. The crown-rump length was 8.5cm, the heel-toe length was approx. 1cm, and the rump-heel length was approx. 3.7cm. There were none of the two kidneys, ureter, bladder, urethra, or rectum. In the umbilical cord, there were 2 venous structures, one of which was the artery. Perivillous congestion and hyperemia, perivillous calcification, deciduitis, and focal infarct regions were observed in placental tissues. This report aims to discuss this very rare case together with the literature.

Preseptal cellulitis is a worrying condition in children. One of the commonest causes is from insect bite. The Charlie ant or Paederus fuscipes has been reported as a dermatitis-causing agent due to its toxin, pederin. The aim is to report a case of preseptal cellulitis secondary to Charlie ant insect bite. A two-year-old girl presented with bilateral eyelid swelling, redness, and pain for two days. The Charlie ant was at the nasal bridge before the presentation. There was presence of generalised bilateral eyelid swelling, redness with multiple pustules, excoriated skin, and eye discharge. She was admitted and started on antibiotics. The pustules ruptured, left the skin exposed, and her condition improved. Preseptal cellulitis is a contiguous spread of infection. An attack by Charlie ant has become a public health concern. There is no specific treatment for this condition. Early detectionmay prevent complications.

An 85-year-old man presented with a 6-month history of worsening left proptosis and painless ophthalmoplegia. Imaging revealed an extensive intraconal and extraconal tumor extending to the level of the optic foramen, as well as the scalp, cheek, and the nasal bridge. Incisional biopsy was consistent with lacrimal gland adenocarcinoma. The patient underwent a left orbital exenteration followed by immunotherapy with pembrolizumab. The treatment was stopped prematurely after 5 cycles due to development of autoimmune colitis. Four months later, the patient developed new contralateral disease in the right orbit and an incisional biopsy again showed lacrimal gland adenocarcinoma. Following the incisional biopsy, no further treatment was administered, but over the ensuing 6 months, there was dramatic spontaneous regression of the tumor both clinically and radiographically. At 28 months, the patient is still alive with relatively stable disease.

The complete or partial meeting of medial eyebrows at midline above the bridge of nose, forming a single band of hair, is known as synophrys or unibrow. With a few rare exceptions, when it may serve as a cutaneous marker lesion of several genetic disorders, with Cornelia De Lange syndrome being the commonest, synophrys is usually a normal variation. Although various cultures have prized synophrys as an attractive physical trait throughout history, in modern Western culture, the unibrow is frequently regarded as an undesirable and unappealing feature with negative connotations. Synophrys, derived from the Ancient Greek σύν (together, with) and ὀφρύς (eyebrow), meaning “with meeting eyebrows,” refers to the complete or partial fusion of medial eyebrows at midline. The hair above the nasal bridge is often of the same color and thickness as the eyebrows, thus giving the appearance that they converge to form one uninterrupted line of hair, a single eyebrow.

Light plays a critical role in regulating physiology and behavior, including both visual and non-visual responses. In mammals, loss of both eyes abolishes all of these responses, demonstrating that the photoreceptors involved are exclusively ocular. By contrast, many non-mammalian species possess extra-ocular photoreceptors located in the pineal complex and deep brain. Whilst there have been suggestions of extra-ocular photoreception in mammals, including man, evidence for these photoreceptors is limited. One approach to objectively determine the presence of such receptors is to measure brain responses to light using functional magnetic resonance imaging (fMRI). Moreover, by using participants who are clinically anophthalmic (congenital and acquired), it is possible to investigate potential light detection in the absence of the retina. Here we scanned participants with anophthalmia and sighted participants in 4 different conditions; the first 3 conditions had a bright light source applied to the following locations: behind the right ear (“ear”), just below the nasal bridge and between the eyes (“head”), and at the right popliteal fossa (“knee”). In the fourth and final scan, the light source was switched off so that there was no light stimulus. All participants were scanned in a completely dark room. No consistent brain activity was detected during any of the light conditions in either sighted controls or anophthalmic participants. Thus, we do not provide any evidence for the presence of extraocular photoreceptors modulating human brain activity, despite recent evidence for gene transcription that may occur as a result of these photoreceptors.

The term ‘Collodion baby’ is used for the new-borns who are born in a parchment like membrane which is shiny, taut, waxy and appears like an extra layer of skin that has a collodion-like quality covering the whole body. It is not a specific diagnosis or disorder but rather a descriptive term. It is found in some forms of congenital ichthyosis. This membrane is shed around 2 weeks from birth. On shedding of membrane dry rough scaly skin like that of fish is visible. Other findings seen in our cases include ectropion and flattening of the nasal bridge. Neonates require careful monitoring and appropriate supportive treatment to decrease morbidity and mortality related to the disorder. We report here three rare cases of collodion baby with congenital ectropion. Keywords: Collodion baby, Lamellar ichthyosis, Ectropion.

Facial surgeries are usually performed with the patient in the supine position; however, it is crucial to predict postoperative results in the upright position. This study aimed to clarify the posture-related morphological changes in the facial soft tissue regarding age and sex, using physical measurements to obtain results in specific linear metric measurements of standard facial features. One hundred healthy volunteers were divided into four groups based on age and sex (25 young men, 25 young women, 25 old men, 25 old women). For all participants, 18 measuring points were marked on the skin along with 18 paired linear measurements, and the angle was measured using a digital sliding caliper and angle meter in both upright and supine positions. In all four groups, the intercanthal width (en-en), binocular width (ex-ex), length of the eye fissure (en-ex), length of the nasal bridge (n-prn), width of the nose (al-al), height of the lower face (sn-gn), vermilion height of the lower lip (sto-li), height of the lower lip (sto-sl), width of the philtrum (cphi-cphi), width of the mouth (ch-ch), and nasolabial angle (NLA) were significantly larger in the supine position than in the upright position. The increase was larger in the older age groups than in the younger age groups. Moreover, the increase was larger in old men than in old women. During facial surgery involving these areas, surgeons should consider the patient's age and sex and understand what facial figuration change would occur depending on posture and change their preoperative design or make minor adjustments during operation in the supine position to increase patient satisfaction.

Primary pancraniosynostosis is a rare variant of craniosynostosis in which the major cranial sutures prematurely fuse. Single-suture craniosynostosis is often recognized early in life due to an abnormal head shape. In contrast, primary pancraniosynostosis may be diagnosed later in life due to a grossly normal head shape and size. As such, these children can present with symptoms related to chronically elevated intracranial pressure (eg, vision loss or cognitive impairment). This report highlights a patient with primary pancraniosynostosis associated with unique neurologic sequelae-namely, bilateral abducens nerve palsy. A 9-year-old boy presented to the ophthalmologist with a 1-month history of double vision, drifting of his right eye toward the nasal bridge, and intracranial hypertension evident with papilledema. Physical examination was notable for mild bitemporal narrowing. A computed tomography study demonstrated radiologic thumbprinting, diffuse osseous sclerosis, and fusion of the bilateral coronal, sagittal, metopic, and lambdoid sutures. The patient underwent emergent cranial vault expansion with fronto-orbital advancement. Papilledema had resolved 4 months following surgery. At 2-year follow-up, abducens nerve palsy and head shape were significantly improved. This study brings attention to an unreported presenting symptom of pancraniosynostosis (bilateral abducens nerve palsy). This information may lead to quicker diagnosis and treatment of pancraniosynostosis-induced intracranial hypertension, which is critical to prevent long-term sequelae.

Purpose: To report the long-term follow-up results after surgical excision of migrated Bio-Alcamid fillers to the Periorbita area. Methods: A retrospective case series of all patients who underwent surgical removal of migrated Bio-Alcamid fillers to the Periorbita area with minimal follow-up of 1 year from January 2009 to January 2018 was done. Results: 16 female patients (24–52 y) presented with an upper or lower eyelid swelling 3–7 years following a filler injection in the nasal bridge, temporal or malar area. All patients had surgical excision of a granulomatous mass ranging in size from 1–3.5 cm. The histopathology report revealed a giant cell reaction in all patients. Follow–up periods ranged from 1 to 8 years. One patient developed lid retraction and another had recurrence 3 years later; the remaining had an unremarkable course. Conclusions: Filler migration is one of the potential complications associated with Bio-Alcamid soft tissue injection. It is important for all physicians to assess nodules/masses/swelling in the facial area to be aware that soft tissue fillers may migrate to a location away from their intended site of injection years after the injection. Patients undergoing surgical excision tend to have favorable overall long-term outcomes in terms of aesthetics and incidence of recurrence. Keywords: Polyalkylimide, Filler, Periorbita, Permanent

Background An important element of most rhinoplasty surgeries is the treatment of the nasal bones, which involves various combinations of osteotomies and hump removal. Objectives The aim of this paper was to describe a rhinoplasty technique in which piezoelectric instruments (PEIs) are used to shape nasal bones, with the priority being to preserve the stability of these bones. In most clinical cases, nasal bones can be stabilized if rhinosculpture (RS) is applied broadly, both separately and in combination with different osteotomies, while preserving the nasal bridge. Methods A step-by-step algorithm was applied to achieve the required aesthetic results when working with PEIs on the bony pyramid, depending on the degree of asymmetry. We used the fully open approach in all clinical cases, which provided the greatest visual field when performing all the steps involved in treating the bony pyramid, thus fully exploiting all the possibilities and advantages of PEIs. Results We report our experience with 165 clinical cases performed over 18 months from December 2016 to July 2018. The patients were divided into 5 groups, depending on the algorithm selected to treat the bony pyramid. Conclusions When working with the bony pyramid, our approach limits patient movement, thus ensuring stability of the side walls of the bones in both the short and the long term—a property that greatly improves the aesthetic results. Level of Evidence: 4

A nine-year-old domestic cat from Melbourne, Australia, presented with a non-ulcerated nodule on its nasal bridge. A fungal infection of the subcutis was diagnosed based on histopathology and culture of a white mould, which was identified as Sporothrix pallida complex by ITS1–5.8S-ITS2 and β-tubulin gene sequencing. The cat was treated by cytoreduction, itraconazole and subsequently posaconazole, which eventually resulted in regression of residual infected tissues and clinical resolution. Keywords: Sporotrichosis, Sporothrix pallida, Itraconazole, Posaconazole

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

BACKGROUND The data of nasal anthropometric measurements could help surgeons perform preoperative or postoperative assessments and decide surgical strategies of the nose plastic surgery and related cosmetic rhinoplasty. The aim of the study was to describe the average values of the nasal anthropometric measurements in Han Nationality young female population in Central China. METHODS All 430 Han Chinese young females were obtained for this study, and their anthropometric features were measured including weight, height, 11 items of linear distance and 4 angles. Seven proportion indices of the soft tissue of the external nose were determined. Related results were compared with the result of other available literature about nasal anthropometry in Han Nationality young females from different regions of China and the other racial/ethnic nasal anthropometry in the world populations. RESULTS The means of the linear measurements of the external nose in this study were as follows: nasal height (48.9 mm), nasal bridge length (43.3 mm), morphological facial height (110.4 mm), facial width (125.1 mm), intercanthal width (35.9 mm), nasal tip protrusion (21.1 mm), nasal width (35.5 mm), nasal ala length (27.9 mm), nasal ala thickness (4.1 mm), columella height (8.9 mm), columella width (6.0 mm). The means of the angular measurements of the nose were as follows: nasofrontal angle (143.3 degree), nasofacial angle (34.1 degree), nasal tip angle (80.4 degree), nasolabial angle (97.3 degree). CONCLUSIONS There were regional differences of the external nasal anthropometric of the Han Nationality young female adults in China and the racial/ethnic differences of that compared with the some races/ethnic around the world. This study could provide credible and objective reference material for plastic and maxillofacial surgeons for the external nasal soft tissue evaluation and planning of the cosmetic nasal surgery in the Han Nationality young female adults in Central China.

A pronounced epicanthal fold is a common feature that presents in 50-90% of the Asian population; it will not only cause the eyes to look small but will also cause a deformity when a double eyelid blepharoplasty is performed, restricting the formation of a preferable outer-type double eyelid. Moreover, the wide intercanthal distance (ICD) arising from the epicanthal fold would diminish the aesthetic appearance, giving the impression of a collapsed nasal bridge.

Traditionally, reconstructions of total nasal defect emphasize the overall aesthetic of the nasal structures. The principle of aesthetic subunit refers to the following: when the defect exceeds half of the nasal subunit, a complete reconstruction of the nose can achieve the better aesthetic result. The nasal subunits include nasal bridge, both lateral surfaces, bilateral alar and nares, nasal tip, and columella. Surgeons, for instance, tend to refrain from removing additional healthy tissues even when the nasal defect exceeds half of the entire nose. However, based on the aesthetic subunit principle, the use of a total nasal reconstruction for a partial defect provides superior aesthetics. As perceptions of aesthetics are largely subjective, it tends to depend heavily on how the face and its subunits are being observed. Russian scientist A. L. Yarbus reported that when participants were asked to focus on the central features of a face, such as facial contour, highlights, and shadows, they tend to ignore the peripheral features. As the nose is an important facial subunit, during total or subtotal nasal reconstruction the Principles of aesthetic subunits should be considered for a satisfactory result [1, 2] (Figs. 20.1 and 20.2).

The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paroxysmal events or both. During infancy, clinical and neuroimaging findings may be unspecific, and no dysmorphic features have been reported. We present the clinical, radiological and evolutionary features of three patients with congenital ataxia, one of them carrying a new variant. We report the structural localization of variants and their expected functional consequences. There was an improvement in cerebellar syndrome over time despite a cerebellar atrophy progression, inconsistent response to acetazolamide and positive response to methylphenidate. The patients shared distinctive facial gestalt: oval face, prominent forehead, hypertelorism, downslanting palpebral fissures and narrow nasal bridge. The two α1A affected residues are fully conserved throughout evolution and among the whole human CaV channel family. They contribute to the channel pore and the voltage sensor segment. According to structural data analysis and available functional characterization, they are expected to exert gain- (F1394L) and loss-of-function (R1664Q/R1669Q) effect, respectively. Among the CACNA1A-related phenotypes, our results suggest that non-progressive congenital ataxia is associated with developmental delay and dysmorphic features, constituting a recognizable syndromic neurodevelopmental disorder. This work was funded by the Spanish Ministry of Health, Consumer Affairs and Social Welfare, the Spanish Ministry of Science and Innovation, the State Research Agency (AEI, Agencia Estatal de Investigación), and FEDER Funds (Fondo Europeo de Desarrollo Regional): Grants RTI2018-094809-B-I00 to J.M.F.F. and CEX2018-000792-M through the “María de Maeztu” Programme for Units of Excellence in R&D to “Departament de Ciències Experimentals i de la Salut”. M.S. is supported by the Generalitat de Catalunya (PERIS SLT008/18/00194) and National Grant PI17/00101 from the National R&D&I Plan, cofinanced by the Instituto de Salud Carlos III (Subdirectorate-General for Evaluation and Promotion of Health Research) and FEDER (European Regional Development Fund).

Made available in DSpace on 2022-04-28T19:49:37Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01 Background: Canine eosinophilic folliculitis is a dermatological disease of acute onset with development of erosive to ulcerative papular lesions, especially on the nasal bridge, that may cause severe skin abnormalities leading to discomfort and pain to the patient. The aim of this report was to characterize a case of a canine eosinophilic folliculitis with papular, ulcerative and crusting dermatitis on the nasal bridge, papules on eyelid and pinna, with confirmed diagnosis based on aspiration cytology, history and response to immunosuppressive therapy with glucocorticoid. Case: An 1-year-old intact Daschund was attended showing an acute onset (over 4 h) of generalized urticarial reaction and nonpruriginous lesion at the muzzle with mild serosanguineous exudate, which persisted for 96 h when the dog was evaluated. It was observed a papular and ulcerative dermatitis with serosanguineous exudate and hematic crusts at nasal bridge, papules measuring 2 mm in diameter in the medial and lateral canthus of the left eyelid, ulcerative papule with hematic crust in the border of left ear pinna, multifocal papules on the skin, dyskeratosis and generalized hair loss. The patient was anesthetized for blood sampling (CBC and serum biochemistry), lesions fine-needle aspiration, scraping and imprint for cytological examination, bacterial culture and nasal turbinates radiography. Fragments for histopathological evaluation were also collected. Erythrogram and platelet evaluation were unremarkable. Leukogram revealed leukocytosis (neutrophilia, lymphocytosis, monocytosis and eosinophilia). Serum biochemistry revealed hyperalbuminemia and discrete hyperproteinemia; values of alanine aminotransferase, creatinine and globulins were within normal range. In cytological examination, intense cellularity was observed with predominance of eosinophils (60%), neutrophils (35%), macrophages performing cytophagocytosis (5%) and degenerated cells. There was no bacterial growth within 48 h after incubation of nasal bridge lesion swab. There were no abnormalities identified at radiographic evaluation of nasal turbinates. As the patient was already with antibiotic therapy and steroidal anti-inflammatory, it was opted to maintain it, since interruption between the day of examination and laboratory results could cause more prejudice than benefit, corticosteroid dose, however, was readjusted (prednisone 2 mg/kg/per os/every 24h). After 1 week of treatment the owner reported significant improvement of clinical signs without any further complaint. Discussion: Typically, type I hypersensitivity reactions such as insect bites do not exceed clinical signs of erythema, local edema and pruritus, with spontaneous remission of clinical signs within few hours after exposure to the antigen. Eosinophilic folliculitis, however, may cause more severe clinical alterations, such as pain, apathy and hyporexia. Nasal bridge is the predominant site described to be affected in cases of eosinophilic folliculitis, being auricular pinna, thorax and limbs considered atypical presentations which can delay proper diagnosis, since in endemic regions for diseases such as visceral leishmaniasis, infectious etiology may be listed first. Differential diagnosis also includes superficial pyoderma, juvenile cellulitis, pemphigus foliaceus and pharmacodermia. The case described in this report emphasize the importance of an accurate diagnosis as well as an early and adequate treatment in order to promote satisfactory response. Also, highlights inadequate use of antimicrobials as a direct consequence of lack of laboratorial investigation. Hospital Veterinário Dom Bosco Universidade Católica Dom Bosco (UCDB), MS Faculdade de Medicina Veterinária e Zootecnia (FAMEZ) Universidade Federal de Mato Grosso do Sul (UFMS) Departamento de Clínica Veterinária Universidade Estadual Paulista “Júlio de Mesquita Filho” (UNESP), SP Departamento de Clínica Veterinária Universidade Estadual Paulista “Júlio de Mesquita Filho” (UNESP), SP

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3-CDG. Herein, we reported a novel SRD5A3 missense pathogenic variant c.460 T > C p.(Ser154Pro). The 3D structural modeling of the SRD5A3 protein revealed additional transmembrane α-helices and predicted that the p.(Ser154Pro) variant is located in a potential active site and is capable of reducing its catalytic efficiency. Based on phenotypes of our patients and all published SRD5A3-CDG cases, we identified the most common clinical features as well as some recurrent dysmorphic features such as arched eyebrows, wide eyes, shallow nasal bridge, short nose, and large mouth. Based on facial digital 2D images, we successfully designed and validated a SRD5A3-CDG computer based dysmorphic facial analysis, which achieved 92.5% accuracy. The current work integrates genotypic, 3D structural modeling and phenotypic characteristics of CDG-SRD5A3 cases with the successful development of computer tool for accurate facial recognition of CDG-SRD5A3 complex cases to assist in the diagnosis of this particular disorder globally.

A 14-year-old girl presented with a 6-month history of rashes involving her ears and eyebrows. She did not have any past significant medical or family history. On examination she had hyperkeratotic scaly lesions on both her eyebrows and alopecia (figure 1A), hyperpigmented plaques in the conchae of her ears bilaterally (figure 1B). Examination of oral cavity revealed painless ulcers on her hard palate (figure 2A). She also had some erythema with hyperpigmentation on the nasal bridge and scattered hyperkeratotic lesions on either sides of her nostril, cheek and chin. Investigations revealed a normal …