Absence Of Elastic Fibers Research Articles

Histological anatomical levels of penile shaft. A histochemical evaluation of 15 cases

Abstract Introduction/Objective Penile carcinomas (PeCa) arising in the skin of the shaft are rare. Staging systems for PeCa are based on tumor invasion of anatomical levels designed for tumors arising in the glans and foreskin but not for those primary of the shaft. There is scant information about anatomical levels in the shaft. The objective of this study was to evaluate and describe anatomical levels of the shaft with emphasis of the fascias, using histochemical stains. Methods/Case Report Sections of penile mid shaft from 15 penectomies with PeCa from 2000-2015 were evaluated. H&E, trichromic and orcein stains were performed to evaluate and describe anatomical levels of the shaft. Results (if a Case Study enter NA) Skin: Epidermis: 7-15 cell thick, thin keratin, granulosis, basal pigmentation. Papillary dermis: Loose connective tissue, capillaries, nerve fibers pilo-sebaceous structures. Absence of elastic fibers. Reticular dermis. prominent elastic fibers layer parallel to epidermis merging with dartos. Dartos (superficial fascia): Poorly delineated, merging with reticular layer with no separating space, composed of thin smooth muscle bundles. Deep fascia (Busck's fascia): All tissues between dartos and tunica albuginea. Fibro-elastic, encases vessels, nerves and fibro adipose tissues. Closely attached to the albuginea.Tunica albuginea: Dense mostly fibrous tissue with few elastic fibers encasing corpora cavernosa. Corpus cavernosum: Thick-walled inter-anastomosed vessels. Smaller nutritional vessels, nerves and adipose tissue. No elastic fibers present. Conclusion There are 5 distinct anatomical layers in the shaft. Reticular dermis and dartos should be considered as one layer given the poor delineation between them. This knowledge is necessary for staging and prognosis of the rare PeCa arising in the shaft.

A Case of Mounier Kuhn Syndrome with Bronchial Asthma

Tracheobronchomegaly (Mounier–Kuhn syndrome) is a rare disease characterized by dilatation of the trachea and major bronchi because of atrophy or absence of elastic fibers and smooth muscle cells. The clinical signs are diverse and not very specific. Imaging provides a positive diagnosis. We present a case of 40 year old male who presented with intermittent episodes of cough with productive sputum, wheezing and breathing difficulty since last 35 years and he was treated for Bronchial Asthma since last 25 years. He was later diagnosed with Mounier–Kuhn syndrome with Bronchial Asthma by clinical history supported by Radiological evidences.

Síndrome de Moünier-Kuhn: um relato de caso

Introdução: Traqueobroncomegalia ou síndrome de Mounier-Kuhn é uma doença rara, observada principalmente em homens de meia idade antes da 5ª década de vida, caracterizada por atrofia ou ausência das fibras elásticas ou da musculatura lisa da parede da traquéia e dos brônquios principais, determinando dilatação dessas estruturas. Acredita-se que a fraqueza do tecido conjuntivo, associada à inalação de poluentes aéreos e fumaça de cigarro, sejam os principais fatores no desenvolvimento desta síndrome. O diagnóstico pode ser ocasional em indivíduos assintomáticos, contudo cursa frequentemente com infeções respiratórias de repetição e bronquiectasias. Descrição: A.H.A.G., 65 anos, masculino, solteiro, branco. Relatava tosse crônica com aumento da frequência há 10 dias associado a um aumento de expectoração, no momento, esverdeado. Queixava-se também de febre irregular diária não termometrada, dispneia aos mínimos esforços, e sudorese noturna. Paciente menciona diagnóstico de bronquiectasia, porém sem adesão ao acompanhamento ambulatorial de pneumologia no HRT desde 2015. Conclusão: A síndrome de Mounier-Kuhn se caracteriza pelo aumento do diâmetro da traqueia e dos brônquios principais associado a redução do clearence mucociliar, o que leva o indivíduo a desenvolver infecções respiratórias com frequência. O diagnóstico é feito por TC de tórax. O tratamento só é realizado nos sintomáticos, objetivando tratar o fator desencadeante da descompensação.

Clinical and pathological features of 16 cases of childhood bullous pilomatricoma

Objective To analyze the clinical and pathological features of childhood bullous pilomatricoma. Methods The clinical and pathological features were analyzed in 16 patients with bullous pilomatricoma, who visited Department of Dermatology of Beijing Children′s Hospital from 2013 to 2017. Results Among the 16 patients, 5 were males, and 11 were females. Their age of onset ranged from 4 months to 11 years, and the median age of onset was 8.5 years. Their course of disease ranged from 2 months to 4 years, and the average course of disease was 10 months. The tumors were found predominantly on the upper limbs (10 cases, including 7 on the upper arm, 2 on the shoulder and 1 on the forearm) , followed by the face (4 cases) and the neck (2 cases) . These tumors manifested as limited pushable red lumps with blister-like appearance, and telangiectasia was observed on the surface of some lesions. The diameters of the lumps ranged from 0.5 cm to 3 cm, and hard nodules could be detected in the blisters by palpation. Under dermoscopy, uniform red background was observed in 16 cases, unstructured white area in 13, unstructured blue-grey area in 4, and liner or irregular branched vessels. Two or more dermoscopic features were observed in 15 patients. All the skin lesions were resected by surgery, and no recurrence was observed during the follow-up of 1 - 5 years. Histopathological examination showed that the tumors were located in the middle to deep dermis, and mainly consisted of basaloid cells and shadow cells, as well as transitional cells between the above two kinds of cells. Varying degrees of infiltration of inflammatory cells and hyperplasia and calcification of the fibrous connective tissue were observed in the tumor interstitium, with multinucleated giant cells in some areas. There were varying degrees of infiltration of inflammatory cells, lymphangiectasis, reduction or absence of elastic fibers in the dermis between the epidermis and tumors. Conclusions Childhood bullous pilomatricoma mostly occurs on the upper limbs, face and neck. Histopathologically, the tumor consists of basaloid cells and shadow cells with lymphangiectasis and reduction of elastic fibers in the dermis. The main dermoscopic features are red background and unstructured white areas. Its prognosis is good after surgical excision. Key words: Pilomatrixoma; Child; Dermoscopy; Skin manifestations; Pathologic processes; Bullous pilomatricoma

Mounier-Kuhn syndrome (tracheobronchomegaly): An analysis of eleven cases.

Mounier-Kuhn syndrome (MKS) is a congenital disorder characterized by tracheobronchomegaly resulting from the absence of elastic fibers in the trachea and main bronchi or atrophy and thinning of the smooth muscle layer. In this syndrome, dead space associated with tracheobronchomegaly increases and discharge of secretions decreases because of ineffective coughing. The most common complications are recurrent lower respiratory tract infections and bronchiectasis. We examined the clinical characteristics, radiological features, and related complications of patients with MKS. The cases were obtained between September 2007 and November 2015. Computed tomography scans of the chest were used to diagnose tracheobronchomegaly. All cases (a total of 11) were males with a mean age of 63 ± 13 (range, 38-80) years. The mean diameter of the trachea was 31.53 ± 2.99 mm; the mean transverse diameter was 31.69 ± 3.10 mm and the mean sagittal diameter was 31.36 ± 3.01 mm. Complaints at the time of presentation included chronic cough, purulent sputum, dyspnea, and hemoptysis. There were recurrent pulmonary infections in seven cases, bronchiectasis in six, and tracheal diverticulum in four at the time of diagnosis. In this article, 11 cases with various rarely seen complications are presented and evaluated in the light of current literature. We recommend that if chronic cough, recurrent pulmonary infections, and bronchiectasis seen in a patient, MKS should be kept in mind.

A case report of mounier‑kuhn syndrome

Mounier-Kuhn syndrome is a congenital abnormality characterized by tracheobronchomegaly as a result of atrophy or absence of elastic fibers and thinning of smooth muscle layer in trachea and main bronchi. The usual presentation is one of recurrent respiratory tract infections with a broad spectrum of functional impairment ranging from minimal disease with preservation of lung function to severe disease in the form of bronchiectasis. We describe a case of an elderly man who presented with a recurrent respiratory infection who was subsequently diagnosed as Mounier-Kuhn syndrome.

A Case Report of Pseudoxanthoma Elasticum-like Papillary Dermal Elastolysis

Pseudoxanthoma elasticum-like papillary dermal elastolysis is a relatively rare disorder within the literature. Increased awareness of this entity will broaden the differential diagnoses among dermatologists encountering such a condition. Pseudoxanthoma elasticum-like papillary dermal elastolysis tends to occur predominantly in elderly females. Clinically, the lesions present as papules and cobblestone plaques on the neck, resembling pseudoxanthoma elasticum. Histologically, there is absence of elastic fibers in the papillary dermis, and no calcification of the remaining fibers. Pseudoxanthoma elasticum-like papillary dermal elastolysis differs from Pseudoxanthoma elasticum by the absence of systemic manifestations, hence patients are reassured and no further workup is warranted. As of now, no effective treatments are available for this entity. Pseudoxanthoma elasticum-like papillary dermal elastolysis should be in the differential diagnosis of a dermatologist when encountering a clinical presentation of Pseudoxanthoma elasticum in an elderly patient localized to the neck, with absence of fragmented and calcified elastic fibers on histologic examination.

Collagen remodeling and peripheral immune cell recruitment characterizes the cutaneous Langerhans cell histiocytosis microenvironment

Langerhans cell histiocytosis (LCH) is a rare and potentially fatal disorder of unknown etiology arising from the accumulation of epidermal Langerhans-like cells in bone, skin, or other tissues. Tissue damage and morbidity results from lesional cytokine release, and we sought to investigate the LCH microenvironment using a combination of histological stains and immunohistochemistry. CD1a immunoreactivity was used to identify lesional cells in archival paraffin-embedded samples of cutaneous LCH. A combined Orcein and Giemsa stain identified immune cells in general (particularly granulocytes and mast cells) and extracellular matrix (particularly elastic fibers), while CD3 and CD68 staining identified T cells and macrophages, respectively. Collagen synthesis was investigated with Herovici staining, which discriminates newly synthesized from mature collagen, while cross-polar microscopy of picrosirius-stained sections identified changes in matrix organization. Immune cells were consistently identified at the periphery of cutaneous LCH lesions. We quantified an increased number of thickened and disorganized elastic fibers surrounding lesions and an absence of elastic fibers within lesions. Furthermore, lesions exhibited a decrease in mature collagen fibers and a loss of supporting collagen matrix within lesions and compromised collagen integrity in adjacent tissue. Cutaneous LCH lesions are associated with the peripheral recruitment of a variety of immune cells and are consistently characterized by localized elastosis, collagen damage, and remodeling.

Anesthetic Considerations for Bilateral Lung Transplantation in Mounier-Kuhn Syndrome

OUNIER-KUHN SYNDROME (MKS), or tracheobronchomegaly, is a rare disorder of unknown etiology that is characterized by marked dilation of the trachea and major bronchi, due to severe atrophy and thinning, as well as absence of elastic fibers and smooth muscular fibers of the large airways. 1 This syndrome commonly presents in men in the third or fourth decade of life. It is marked by weakness of the membranous and cartilaginous parts of the trachea and main bronchi leading to an insufficient cough, mucous retention, and tracheobronchial wall collapse during respiration. Symptoms can range from well-preserved lung function to refractory respiratory failure. There are fewer than 100 case reports in the literature with only 2 reports of successful lung transplantation for patients with this syndrome. 1–3 Herein, the authors present a case of a patient diagnosed with MKS presenting for bilateral lung transplantation and describe the one-lung ventilation (OLV) strategies that were attempted and utilized.

Anesthetic management of a patient with Mounier-Kuhn syndrome undergoing off-pump coronary artery bypass graft surgery -A case report-

Mounier-Kuhn-syndrome patients have markedly dilated trachea and main bronchi due to an atrophy or absence of elastic fibers and thinning of smooth muscle layers in the tracheobronchial tree. Although this syndrome is rare, airway management is challenging and general anesthesia may produce fatal results. However, only a few cases have been reported and this condition is not widely known among anesthesiologists. We present the case of a tracheobronchomegaly patient undergoing an emergency off-pump coronary artery bypass. Although the trachea was markedly dilated with numerous tracheal diverticuli, there was an undilated 2 cm portion below the vocal cords found on the preoperative CT. Under a preparation of extracorporeal membrane oxygenation, we intubated and placed the balloon of an endotracheal tube (I.D. 9 mm) at this portion, and maintained ventilation during the operation. This case showed that a precise preoperative evaluation and anesthetic plan is essential for successful anesthetic management.

Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma

Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized clinically by loosely hanging skin folds. There is often preceding cutaneous inflammatory eruption (ie, urticaria, eczema, erythema multiforme), and there is frequently internal organ involvement of the gastrointestinal, urogenital, pulmonary, and cardiovascular systems. Histologically, there are degenerative changes in the dermal elastic fibers. Of the few reports on this rare disorder, authors have speculated about an immune-mediated destruction of elastic fibers, and monoclonal gammopathies, such as multiple myeloma or heavy chain deposition disease, have a recognized association with CL. We report an unusual case of rapidly progressing acquired CL associated with leukocytoclastic vasculitis, IgA myeloma, and an immune complex-mediated glomerulonephritis. Light microscopy of the lax skin revealed complete absence of elastic fibers in areas of vasculitis.

Analysis of dermal elastic fibers in the absence of fibulin-5 reveals potential roles for fibulin-5 in elastic fiber assembly

Fibulin-5 is a 66 kDa modular, extracellular matrix protein that localizes to elastic fibers. Although in vitro protein–protein binding studies have shown that fibulin-5 binds many proteins involved in elastic fiber formation, the specific role of fibulin-5 in elastogenesis remains unclear. To provide a more detailed analysis of elastic fiber assembly in the absence of fibulin-5, the dermis of wild-type and fibulin-5 gene knockout ( Fbln5 −/−) mice was examined with electron microscopy (EM). Although light microscopy showed apparently normal elastic fibers near the hair follicles and the absence of elastic fibers in the intervening dermis of the Fbln5 −/− mouse, EM revealed the presence of aberrantly assembled elastic fibers in both locales. Instead of the elastin being incorporated into the microfibrillar scaffold, the elastin appeared as globules juxtaposed to the microfibrils. Desmosine analysis showed significantly lower levels of mature cross-linked elastin in the Fbln5 −/− dermis, however, gene expression levels for tropoelastin and fibrillin-1, the major elastic fiber components, were unaffected. Based on these results, the nature of tropoelastin cross-linking was investigated using domain specific antibodies to lysyl oxidase like-1 (LOXL-1). Immunolocalization with an antibody to the N-terminal pro-peptide, which is cleaved to generate the active enzyme, revealed abundant staining in the Fbln5 −/− dermis and no staining in the wild-type dermis. Overall, these results suggest two previously unrecognized functions for fibulin-5 in elastogenesis; first, to limit the extent of aggregation of tropoelastin monomers and/or coacervates and aid in the incorporation of elastin into the microfibril bundles, and second, to potentially assist in the activation of LOXL-1.

Mounier–Kuhn syndrome: A rare cause of bronchial dilatation: A case report

Tracheobronchomegaly (TBM) (Mounier–Kuhn syndrome) is dilatation of the trachea and major bronchi because of atrophy or absence of elastic fibers and smooth muscle cells. We present a case of TBM with refractory lower respiratory infection and haemoptysis. The patient was a 53-year-old man with recurrent haemoptysis and without fever, wheezes, chest pain, weight loss or any respiratory disease. Chest helical computed tomography (CT) scan showed tracheomegaly with transversal diameters of the trachea of 50 mm. A bronchoscopy was performed and revealed markedly enlarged airways and traces of bleeding arising from the right airways. The haemoptysis was stopped only after bronchial artery embolization.

Mounier-Kuhn Syndrome: Report of 8 Cases of Tracheobronchomegaly With Associated Complications

Mounier-Kuhn syndrome is a rare congenital abnormality characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layer in the trachea and main bronchi. These airways are thus flaccid and markedly dilated on inspiration and collapsed on expiration. First- to fourth-order bronchi are affected. There is an increase in dead space, tidal volume and diminished clearing of secretions. The usual presentation is recurrent respiratory tract infections with a broad spectrum of functional impairment ranging from minimal disease with preservation of lung function to severe disease in the form of bronchiectasis, emphysema and pulmonary fibrosis, ultimately culminating in respiratory failure and death. A congenital connective tissue weakness, in combination with inhalation of irritants like cigarette smoke and air pollution, are raised as possible factors in the development of this syndrome. Eight cases of tracheobronchomegaly with its associated complications are reported. Computed tomography scan of the chest was used for the diagnosis of tracheobronchomegaly. Treatment is mainly supportive with chest physiotherapy and antibiotics; however, there are a few reported cases where insertion of a tracheal stent resulted in some success.

P44.18: Restrictive dermopathy : lethal tight skin contracture syndrome

Restrictive dermopathy (RD) is a very rare autosomal recessive skin disorder that leads inevitably to death shortly after a birth. This disease, which was first described by Witt et al in 1986, has a clinical picture to allow an immediate diagnosis: microstomia and micrognathia, thin but very tight translucent skin causing arthrogyrophosis multiplex congenital. Associated anomalies of the viscera include hepatosplenomegaly, ureteral duplication, and pulmonary hypoplasia. We had experienced two affected siblings of restrictive dermopathy. A 31-year-old pregnant women, para 0-1-2-0, presented at 5 weeks of gestation for prenatal care, who had a previous preterm delivery because of preterm premature rupture of membrane at 26 gestational weeks. The first baby was delivered 3 weeks after continuous amnioinfusion and died immediately with a feature of generalized joint contracture, a dysplastic face, and pulmonary hypolasia. This pregnancy was uneventful until 24 weeks except for reduced fetal movement and borderline oligohydramnios. Ultrasound study showed a persistent fetal hypokinetic movement and microgastria around the 26th week. Premature rupture of membrane at 29 weeks recurred and the female infant was delivered 3 days later by Cesarean section. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dysmorphic fingers and toes with generalized joint contractures, and muscular hypotonia, respiratory insufficiency. Histological findings of skin biopsy include thin dermis with paucity and hypoplasia of appendages and abnormally arranged collagen bundles and absence of elastic fibers.

Mounier-Kuhn syndrome: A rare cause of severe bronchial dilatation with normal pulmonary function test: A case report

Tracheobronchomegaly (TBM) (Mounier-Kuhn syndrome) is dilatation of the trachea and major bronchi because of atrophy or absence of elastic fibers and smooth muscle cells. We present a case of TBM with normal pulmonary function test (PFT). The patient was a 37-year-old man with increasing productive cough and without fever, wheezes, chest pain, weight loss or any respiratory disease. Chest helical computed tomography (CT) scan showed tracheomegaly with transversal diameters of the trachea of 44mm. CT scan showed collapse of the trachea. Few large diverticular out-pouching and openings in the trachea was seen in bronchoscopy. PFT results were normal. PFT in large airway disorders may be normal while abnormalities may indicate underlying small airway disorder. An underlying small airway disorders is responsible for abnormal reports in PFT of these patients. We may need to re-evaluate the role of PFT within follow-up of patients with large airway disorder.

Cutis laxa adquirida localizada asociada a traquioniquia

Acquired cutis laxa is a rare disease of unknown cause, which affects elastin metabolism. Clinically, it is characterized by redundant skin and hyperelasticity, while the histological study shows a reduction in or absence of elastic fibers in the dermis. We present a case of localized acquired cutis laxa associated with trachyonychia.

Ultrastructural study on adhesions in internal derangement of the temporomandibular joint

Purpose: This study examined the ultrastructural characteristics of adhesions in the upper joint compartment of temporomandibular joint (TMJ). Materials and Methods: Tissue biopsy specimens of adhesions were obtained during arthroscopic operation on 36 joints in 22 patients with internal derangement (ID). The biopsy specimens were examined by light and transmission electron microscopy. Results: Adhesions were grossly divided into two types based on arthroscopic observation: 1) a band-like type, which connected the articular fossa and TMJ disc, and 2) a pseudowall-like type, which faced the synovial fluid and was lined by articular tissue. Two types of collagen arrangement were observed at the electron microscopic level: orderly arranged collagen bundles and randomly arranged collagen bundles. Orderly arranged collagen bundles were prominent in the band-like adhesions. In pseudowall-like adhesions, mainly the randomly arranged collagen bundles were seen. However, in some dense fiber parts, orderly arranged collagen bundles also were observed. In other pseudowall-like adhesions, only orderly arranged collagen bundles were seen. Elastic fibers were abundant in some pseudowall-like adhesions with randomly arranged collagen bundles. There were no elastic fibers in the band-like adhesions, some dense fiber parts of the pseudowall-like adhesion, pseudowall-like adhesions consisting of only orderly arranged collagen bundles, and in the synovial membrane. Conclusion: The different arrangement of collagen fibers and presence or absence of elastic fibers were observed in the two types of adhesions. These findings served to show that extracellular components correspond to a dysfunction involving an ID of TMJ.

Congenital tracheobronchomegaly (Mounier-Kuhn syndrome)

Mounier-Kuhn syndrome is a congenital abnormality of the trachea and main bronchi characterized by atrophy or absence of elastic fibers and thinning of muscle, which allows the trachea and main bronchi to become flaccid and markedly dilated on inspiration with narrowing or collapse on expiration or cough. The abnormal airway dynamics and pooling of secretions in broad outpouchings of redundant musculomembranous tissue between the cartilaginous rings predispose to the development of chronic pulmonary suppuration, bronchiectasis, emphysema, and pulmonary fibrosis. A broad spectrum of clinical abnormalities has been documented in Mounier-Kuhn syndrome, ranging from minimal disease with good preservation of pulmonary function to progressive disease leading to respiratory failure and death. In the appropriate clinical setting, Mounier-Kuhn syndrome is diagnosed in women from chest radiographs when the transverse and sagittal diameters of the trachea exceed 21 mm and 23 mm, respectively, and when the transverse diameters of the right and left main bronchi exceed 19.8 mm and 17.4 mm, respectively. In men it is diagnosed when the transverse and sagittal diameters of the trachea exceed 25 mm and 27 mm, respectively, and when the transverse diameters of the right and left main bronchi exceed 21.1 mm and 18.4 mm, respectively. The diagnosis can be confirmed easily by computed tomography.

Multiple Trichodiscomas: Histogenetical Observations

A 23-year-old man with multiple trichodiscomas on his face is described. Four papules were histologically examinated, and all of them showed similar findings, a dermal fibrovascular proliferation with abundant ground substance between collagen bundles and an absence of elastic fibers. We found no evidence to establish a relationship between trichodiscomas and hair disk, and, in our opinion, these lesions should be included into the spectrum of hyperplasia of the adventicial dermis.