Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations. Using trio-based whole-exome sequencing, a de novo missense variant in SOX11 (NM_003108.4: c.347A>G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55 SOX11 intragenic variants affecting various protein-coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56 SOX11 variants (including our case), we found variants affecting different regions of SOX11 protein (high-mobility group [HMG] domain and non-HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS-9; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in SOX11, indicating that the SOX11 gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic SOX11 variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.

[Auricular and periauricular pathologies in the ENT department of Sylvanus Olympio Teaching Hospital in Lome (Togo)]. / Pathologies auriculaires et périauriculaires au service d'ORL du Centre hospitalier universitaire Sylvanus Olympio de Lomé (Togo).

Objective: The aim of this study is to describe the epidemiological aspects, clinical features and principles of management of different types of auricular and peri-auricular pathologies. Patients and Methods: This is a 5-year retrospective descriptive study (from May 1, 2018 to April 30, 2023) of the records of patients who consulted for a functional or cosmetic complaint relating to the auricle or periauricular region in the ENT and cervico-facial surgery department of the Centre hospitalier universitaire Sylvanus Olympio. Results: A total of 159 cases over 5 years, i.e. an annual frequency of 31 cases, met the study criteria. The mean age of the patients was 22.2 years. Children and students accounted for 24.5% and 23.9% of cases respectively. Auricular pathologies accounted for 64.8% of cases and peri-auricular pathologies for 36.2%.Tumors and trauma accounted for 33.3% and 29.6% of cases respectively, and congenital pathologies were found in 29.9% of cases. Among traumatic lesions, intentional assault and battery was the cause in 21.3%, followed by road accidents in 17.2%. The right ear was affected in 48% and the lobule in 40.4%. Keloids accounted for 17.6% of all cases, and 53% of tumors and pseudotumors. The left ear was involved in 50% of cases. Piercing was the cause of keloids in 10.7% of cases. Conclusion: Auricular and peri-auricular pathologies were dominated by benign tumors, trauma and congenital pathologies, and involved young subjects. Management is based on the type of lesion, with functional and aesthetic considerations in mind.

Colgajo giratorio retroauricular / Retroauricular flip-flop flap

Resumen El colgajo retroauricular en isla (flip-flop flap) fue descrito por Masson en 1972 y consiste en tejido dermoepidérmico irrigado por un pedículo de patrón aleatorio subcutáneo de ramas de la arteria auricular posterior. Proviene de la región mastoidea y retroauricular y aporta buena cobertura para la región anteromedial del pabellón auricular. Se describen dos casos, en que se realizó cobertura inmediata secundario a un defecto de la concha auricular posterior a resección neoplásica, obteniendo resultados satisfactorios y sin complicaciones.

Abstract The retroauricular island flap (flip-flop flap), was described by Masson in 1972 and consists on dermoepidermal tissue irrigated by a random subcutaneous pedicle of branches of the posterior auricular artery. It comes from the mastoid and retroauricular region and provides a good coverage for the anteromedial region of the pinna. Two cases are described, in which immediate coverage was performed secondary to a defect in the auricular concha after a neoplastic resection, obtaining satisfactory results without complications.

Evaluation of the use of tacrolimus ointment for the prevention of hypertrophic scars in experimental model

Abstract BACKGROUND: Tacrolimus, for its activity on modulation of collagen production and fibroblast activity, may have a role in the prevention of hypertrophic scars. OBJECTIVES: Evaluate macroscopic, microscopic, metabolic, laboratory effects and side effects of the use of topical tacrolimus ointment, in different concentrations, in the prevention of hypertrophic scars. METHODS: Twenty-two rabbits were submitted to the excision of 2 fragments of 1 cm of each ear, 4 cm apart, down to cartilage. The left ear of the animals was standardized as control and Vaseline applied twice a day. The right ear received tacrolimus ointment, at concentrations of 0.1% on the upper wound and 0.03% on the lower wound, also applied twice a day. Macroscopic, microscopic, laboratory criteria and the animals' weight were evaluated after 30 days of the experiment. RESULTS: Wounds treated with tacrolimus, at concentrations of 0.1% and 0.03%, when compared to control, showed a lower average degree of thickening (p = 0.048 and p <0.001, respectively). The average of scar thickness and lymphocyte, neutrophil and eosinophil concentrations are lower in the treated wounds compared to the control (p <0.001, p=0.022, p=0.007, p=0.044, respectively). The mean concentration of lymphocytes is lower in wounds treated with a higher concentration of the drug (p=0.01). STUDY LIMITATIONS: experiment lasted only 30 days. CONCLUSIONS: Tacrolimus at the 2 concentrations evaluated reduced the severity of inflammatory changes and positively altered the macroscopic aspect of the scar in the short term. Its use was shown to be safe, with no evidence of systemic or local adverse effects.

Carcinoma espinocelular del oído externo con extensión parotídea: a propósito de un caso / Squamous cell carcinoma of the external ear with parotid extension: case report

El pabellón auricular y el conducto auditivo externo constituyen una región anatómica que puede ser asiento de múltiples patologías, entre ellas procesos inflamatorios, infecciosos y neoplásicos, tanto benignos como malignos. Con respecto a los tumores, los diversos tipos suelen presentarse con síntomas y signos similares y en general es difícil inferir la variedad histológica del tumor a través del examen físico, por lo cual es necesario el estudio histopatológico para determinar el diagnóstico. La mayoría de los tumores del oído externo son carcinomas; entre ellos se destacan el carcinoma basocelular, el más frecuente, y el carcinoma espinocelular. Menos frecuentemente se encuentran otros tipos de tumores como los melanomas, adenocarcinomas, carcinomas de glándulas ceruminosas, carcinomas mucoepidermoides, sarcomas, procesos linfoproliferativos, etc. Suelen ocurrir en la edad media y avanzada (50-70 años) y con mayor periodicidad en el sexo masculino. En el presente trabajo se describe un caso clínico de carcinoma espinocelular del oído externo, tratado exitosamente mediante cirugía y radioterapia, así como también se describen las características clínicas de esta enfermedad, con especial atención al compromiso del oído externo por ella.

The pinna and the ear canal are an anatomical region that can be affected by many diseases, including inflammatory, infectious and benign and malignant neoplastic processes. With regard to tumors, various types usually present with similar symptoms and usually is very difficult to know the histological type through physical examination, so histopathological examination is necessary in order to determine the diagnosis. Most tumors are carcinomas; they can be basal cell carcinoma (more frequently), or squamous carcinoma. Less frequently are other types of tumors such as melanomas, adenocarcinomas, ceruminous glands carcinomas, mucoepidermoid carcinomas, sarcomas, lymphoproliferative disorders, etc. They usually present in middle and advanced age people (50-70 years) and are more frequently in men. In this article we present a case of squamous cell carcinoma of the external ear with extention to parotid gland, successfully treated with surgery and radiotherapy, as well as we describe the clinical characteristics of this disease, with special attention to the compromise of the external ear. (AU)

Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus

AbstractBACKGROUND:Hair follicle nevus is a rare, congenital hamartoma with follicular differentiation characterized histologically by numerous, tiny, mature hair follicles. Trichofolliculoma, the histopathological features of which are quite similar to those of hair follicle nevus, is also a hamartoma that differs from hair follicle. Accessory tragus is a relatively common, benign congenital abnormality of the external ear with an incidence rate of 1 to 10 per 1,000 live births.OBJECTIVE:This study seeks to assess the discriminatory value of currently available, histological criteria in the differential diagnosis of hair follicle nevus, accessory tragi and trichofolliculoma.METHODS:Twenty-one patients comprising 9 cases of hair follicle nevus, 8 accessory tragi patients and 4 trichofolliculoma cases, were recruited to perform the study.RESULTS:There were 10 males and 11 females in the study group. No significant difference was observed between the three study groups in terms of age, gender or histopathological parameters such as density of hair follicles, subcutaneous fat score and presence of connective tissue framework. Cartilaginous component was seen in 8 cases that were diagnosed as accessory tragi, while central cyst and radiating hair follicles were seen in 4 cases which were diagnosed as trichofolliculoma.CONCLUSION:The results of our study showed that diagnostic discrimination of these diseases could be made only with the clinicopathologic correlation because of their clinical and histopathological similarities.

Argyria mimicking a blue nevis: dermoscopy features / Argyria imitando um nevo azul: características dermatoscópicas

Argyria is a rare disease caused by prolonged skin contact with silver. Localized cases have been described regarding the use of topical medications, and trauma with objects containing this metal such as acupuncture needles and jewelry. Clinically, a macule or a patch, round or oval, appears in the infected area, with a characteristic bluey-gray color. To our knowledge this is the first time that this clinical condition has been described through the use of dermoscopy.

A argíria é uma doença rara, causada pelo contato prolongado da pele com prata. Foram descritos casos localizados relacionados ao uso de medicamentos tópicos e traumas com objetos que contem esse metal, como agulhas de acupuntura e jóias, por exemplo. Clinicamente, aparecem máculas ou manchas redondas ou ovais na área afetada, com uma característica cor azul-acinzentada. Até onde sabemos esta é a primeira vez que este quadro clínico foi descrito através da dermatoscopia.

Sarcoid-like paracoccidioidomycosis presenting with perineural granuloma / Paracoccidioidomicose sarcoidica com granuloma perineural

Paracoccidioidomycosis presenting as a sarcoid-like plaque may be misdiagnosed as leprosy, especially when shared endemic areas are concerned. We report the case of a Brazilian male patient presenting with an ulcerated plaque on his left ear and neighboring areas. The plaque simulated tuberculoid leprosy type 1 reaction, both clinically and histopathologically. A perineural granuloma with no organisms detected by routine and Fite-Faraco staining reinforced that diagnosis. Paracoccidioidomycosis was confirmed only after a second biopsy, taken from the ulcerated area.

Paracoccidioidomicose expressando-se como placa sarcoídica pode ser confundida com hanseníase, especialmente em zonas endêmicas comuns às duas condições. Apresentamos um paciente brasileiro, com placa ulcerada na orelha direita e em áreas vizinhas que simulava, clinica e histopatologicamente, hanseníase tuberculoide em reação tipo 1. O encontro de granuloma perineural, sem parasitas detectáveis às colorações de rotina e Fite-Faraco, reforçou a hipótese de hanseníase. Apenas com uma nova biópsia, desta vez da área ulcerada, a paracoccidioidomicose pôde ser confirmada.

Líquen estriado no adulto / Lichen striatus on adult

Líquen estriado é uma erupção inflamatória incomum, de etiologia desconhecida. Raramente acomete adultos, e é caracterizada pelo surgimento abrupto de pápulas coalescentes, em arranjo linear, usualmente em extremidades. A histopatologia mostra reação liquenóide envolvendo folículos e glândulas. Ocasionalmente há sobreposição com líquen plano linear e "blaschkitis", seus principais diagnósticos diferenciais. Relata-se um caso de mulher adulta com pápulas eritematovioláceas em região cervical e hemiface direitas, cuja correlação clínico-histopatológica permitiu o diagnóstico de líquen estriado. Os achados atípicos e a dificuldade diagnóstica são discutidos.

Lichen Striatus is an uncommon inflammatory skin eruption of unknown etiology. It rarely affects adults, and it is characterized by abrupt onset of coalescent papules, in a linear disposition, usually on the extremities. Histopathology shows lichenoid reaction involving follicles and glands. Occasionally, there is overlap with linear lichen planus and "blaschkitis", the main differential diagnoses. It is reported here the case of an adult woman with erythematous violaceous papules on the right side of the neck and face, diagnosed with lichen striatus by clinical and histopathological correlation. The atypical findings and the diagnostic difficulty are discussed.

Association between ear creases and peripheral arterial disease

INTRODUCTION: Peripheral arterial disease is a severe manifestation of atherosclerosis that can lead to critical ischemia of the lower limbs and is also associated with high cardiovascular risk. Diagonal lobular and anterior tragal ear creases have been associated with coronary artery disease, but they have not yet been investigated in patients with peripheral arterial disease. OBJECTIVES: To evaluate the prevalence of ear creases among patients with peripheral arterial disease of the lower limbs, compared with patients without documented atherosclerotic disease. METHODS: Cross-sectional study including 60 male patients with peripheral arterial disease of the lower limbs and 60 dermatologic outpatients matched for age and gender. The associations were adjusted for other risk factors by conditional logistic regression. RESULTS: The prevalence of diagonal and anterior tragal ear creases was higher among cases (73 percent vs. 25 percent and 80 percent vs. 43 percent, respectively) than controls; these associations remained significant even when adjusting for other known risk factors of atherosclerosis (odds ratio = 8.1 and 4.1, respectively). CONCLUSIONS: Ear creases are independently associated with peripheral arterial disease and may be an external marker for risk identification.

Histopathology of Leishmania major infection: revisiting L. major histopathology in the ear dermis infection model

We describe the relationship between lesion outcome and histopathological hallmarks in susceptible (BALB/c) and resistant (C57BL/6 and IL-4-deficient BALB/c) mouse strains over the course of a 12-week-infection with Leishmania major in the ear. The infiltration of mononuclear cells and polymorphonuclear cells occurred within 6 h and mononuclear cells predominated one week post-infection. Permissive intracellular growth of the pathogen was associated with non-healing lesions. In contrast, tissue damage and clearance of the parasite was observed in healing lesions and was associated with inducible nitric oxide synthase expression. The identification of the structural components of tissue reaction to the parasite in this study furthers our understanding of subjacent immune effector mechanisms.

Non-invasive 3D facial analysis and surface electromyography during functional pre-orthodontic therapy: a preliminary report

OBJECTIVES: Functional orthodontic devices can modify oral function thus permitting more adequate growth processes. The assessment of their effects should include both facial morphology and muscle function. This preliminary study investigated whether a preformed functional orthodontic device could induce variations in facial morphology and function along with correction of oral dysfunction in a group of orthodontic patients in the mixed and early permanent dentitions. MATERIAL AND METHODS: The three-dimensional coordinates of 50 facial landmarks (forehead, eyes, nose, cheeks, mouth, jaw and ears) were collected in 10 orthodontic male patients aged 8-13 years, and in 89 healthy reference boys of the same age. Soft tissue facial angles, distances, and ratios were computed. Surface electromyography of the masseter and temporalis muscles was performed, and standardized symmetry, muscular torque and activity were calculated. Soft-tissue facial modifications were analyzed non-invasively before and after a 6-month treatment with a functional device. Comparisons were made with z-scores and paired Student's t-tests. RESULTS: The 6-month treatment stimulated mandibular growth in the anterior and inferior directions, with significant variations in three-dimensional facial divergence and facial convexity. The modifications were larger in the patients than in reference children. In several occasions, the discrepancies relative to the norm became not significant after treatment. No significant variations in standardized muscular activity were found. CONCLUSIONS: Preliminary results showed that the continuous and correct use of the functional device induced measurable intraoral (dental arches) and extraoral (face) morphological modifications. The device did not modify the functional equilibrium of the masticatory muscles.

Angiomixoma superficial preauricular: importancia médica / Preauricular superficial angiomyxoma: medical importance

Los angiomixomas superficiales son tumores benignos poco frecuentes y de presentación clínica variable. Se ubican de preferencia en tronco, extremidades y región de cabeza y cuello. El diagnóstico es histológico y relativamente fácil debido a las características propias de la lesión. El angiomixoma puede ser marcador de mixomas cardiacos y estar asociado simultáneamente con el síndrome o complejo de Carney, por lo que es importante siempre descartarlo. El tratamiento es la excisión quirúrgica, con alta probabilidad de recurrencia local, por lo que es fundamental el seguimiento post quirúrgico. A continuación presentamos el caso de un paciente de sexo masculino, de 60 años de edad, con un angiomixoma superficial preauricular, sin evidencia clínica ni imagenológica de componentes del complejo de Carney.

Superficial angiomyxoma are rare benign tumors with variable clinical presentations. They are located preferably in the trunk, limbs, and head and neck region. Histological diagnosis is relatively simple because there are specific features for this lesion. Superficial angiomyxomas may be a marker of cardiac myxomas and simultaneously be associated with Carney’s complex, so it is always important to consider this as a differential diagnosis. Treatment is surgical excision, with high probability of local recurrence, so post surgical follow-up is extremely important. We present the case of a male patient, 60 years old, with a preauricular superficial angiomyxoma with neither clinical nor radiological evidence of Carney’s complex components.

Cebus apella (Primata: Cebidae) as a new host for Fonsecalges johnjadini (Acari: Psoroptidae, Cebalginae) with a description of anatomopathological aspects

Mites collected from the auditory canal of Cebus apella (capuchin monkey), family Cebidae, were identified as Fonsecalges johnjadini (Psoroptidae, Cebalginae). It is the first record of this parasite from this monkey. This paper emphasizes the importance of clinical and anatomopathological examinations for parasitic diagnosis in wild animals

Malignant melanoma with liver and spleen metastases: case report

CONTEXT: The diagnosis of primary melanoma is easily confirmed after histological analysis of the lesion, whereas it is rarely diagnosed when the patient even has distant metastases. DESIGN: Case report CASE REPORT: Malignant melanoma is responsible for about 1 percent of all deaths caused by cancer in the USA and only 3 percent of all malig-nant skin diseases. Malignant melanoma is a rare disease, although it corresponds to 65 percent of all deaths caused by skin cancer. The liver and spleen are rarely the first sites of melanoma metastases. This paper reports on the clinical picture of a patient with fatal malignant melanoma and hepatic and spleen metastases. As this was an un-usual presentation, the melanoma diagnosis could only be made after pathological analysis of the skin and hepatic lesions

Perdas auditivas condutivas / Conductive hearing loss

O sistema auditivo é constituído pelas orelhas externa, média e interna e pelas vias auditivas no sistema nervoso central. A membrana timpânica tem como função amplificar a pressão sonora, permitindo uma amplificação de sons. A orelha média compreende a cavidade timpânica composta pela membrana timpânica (camadas intermediária e interna), cadeia ossicular com seus músculos e ligamentos, a tuba auditiva, o adito, o antro e as células mastóideas. Conhecendo-se as estruturas das orelhas externa e média e sua fisiologia na transmissão sonora, pode-se reconhecer o que alterações neste sistema trazem de prejuízos para a função auditiva no ser humano, constituindo assim quadros clínicos diversos que cursam com perdas auditivas condutivas.

Ceratoacantoma gigante de orelha: revisäo e apresentaçäo de um caso / Giant keratoacanthoma in the ear: review and report of a case

O ceratoacantoma é uma neoplasia benigna que apresenta crescimento rápido, seguido por período estacionário e, finalmente, involuçäo espontânea. O ceratoacantoma gigante pertence ao tipo solitário, com mais de 2 cm de diâmetro. Os autores relatam o caso de um paciente com lesäo de ceratoacantoma gigante de orelha esquerda, diagnóstico confirmado pelo exame anatomopatológico. Otratamento a princípio seria cirúrgico, com ressecçäo de toda lesäo, mas como havia risco cirurgico II, optou-se por conduta expectante. Em seis meses houve regressäo quase total da lesäo