Lesión nodular que sangra con facilidad en zona foto expuesta / Nodular lesion that bleeds easily in a photoexposed area

Las lesiones cutáneas son uno de los principales motivos de consulta en Atención Primaria por su frecuencia y por la preocupación de las personas afectadas ante la posibilidad de que degeneren en lesiones malignas, con las implicaciones que ello tiene para la vida del paciente. La fotoexposición y los agentes externos a los que exponemos nuestra piel están relacionados con la aparición y los cambios de diferentes lesiones cutáneas. La dermatoscopia es de gran ayuda para el diagnóstico diferencial, aunque a veces nos presenta dudas por las que debemos ampliar el estudio.Presentamos el caso de una mujer de 75 años que consulta por una lesión nodular excrecente con bordes eritematosos de casi 1 cm de diámetro sobre el dorso de la mano derecha de unas 3 semanas de evolución, con bordes erosionados y sangrado recurrente, que nos plantea como diagnóstico diferencial un granuloma piógeno frente a un melanoma amelanótico.(AU)

Skin lesions are one of the main reasons for primary care consultation, both because of their frequency and the possibility of degenerating into malignant lesions with the implications on the patient's life. Photoexposure and the external agents that our skin are exposed to are related to the appearance and changes of different skin lesions. Dermoscopy is a great help for differential diagnosis, although sometimes it may create doubts and induces further examinations, whereby we must expand the study.We report the case of a 75-year-old woman who consulted about an overgrowth nodular lesion with erythematous edges. Its diameter was approximately 1 cm on the back of the right hand of about three weeks clinical course. The lesion had eroded edges and presented recurrent bleeding, which suggests a pyogenic granuloma versus an amelanotic melanoma as a differential diagnosis.(AU)

Intrinsic Abnormalities of Cystic Fibrosis Airway Connective Tissue Revealed by an In Vitro 3D Stromal Model.

Cystic fibrosis is characterized by lung dysfunction involving mucus hypersecretion, bacterial infections, and inflammatory response. Inflammation triggers pro-fibrotic signals that compromise lung structure and function. At present, several in vitro cystic fibrosis models have been developed to study epithelial dysfunction but none of these focuses on stromal alterations. Here we show a new cystic fibrosis 3D stromal lung model made up of primary fibroblasts embedded in their own extracellular matrix and investigate its morphological and transcriptomic features. Cystic fibrosis fibroblasts showed a high proliferation rate and produced an abundant and chaotic matrix with increased protein content and elastic modulus. More interesting, they had enhanced pro-fibrotic markers and genes involved in epithelial function and inflammatory response. In conclusion, our study reveals that cystic fibrosis fibroblasts maintain in vitro an activated pro-fibrotic state. This abnormality may play in vivo a role in the modulation of epithelial and inflammatory cell behavior and lung remodeling. We argue that the proposed bioengineered model may provide new insights on epithelial/stromal/inflammatory cells crosstalk in cystic fibrosis, paving the way for novel therapeutic strategies.

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely, different mutations in the NPR-B receptor and the CNP ligand have been identified in individuals with either short or tall stature. In this study we show that the NPR-C receptor (encoded by NPR3) is also important for the regulation of linear bone growth. We report four individuals, originating from three different families, with a phenotype characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, aortic dilatation was observed in two of these families. In each affected individual, we identified a bi-allelic loss-of-function mutation in NPR3. The missense mutations (c.442T>C [p.Ser148Pro] and c.1088A>T [p.Asp363Val]) resulted in intracellular retention of the NPR-C receptor and absent localization on the plasma membrane, whereas the nonsense mutation (c.1524delC [p.Tyr508∗]) resulted in nonsense-mediated mRNA decay. Biochemical analysis of plasma from two affected and unrelated individuals revealed a reduced NTproNP/NP ratio for all ligands and also high cGMP levels. These data strongly suggest a reduced clearance of natriuretic peptides by the defective NPR-C receptor and consequently increased activity of the NPR-A/B receptors. In conclusion, this study demonstrates that loss-of-function mutations in NPR3 result in increased NPR-A/B signaling activity and cause a phenotype marked by enhanced bone growth and cardiovascular abnormalities.

[Vascular pathology in the aspect of sudden death in young adults and connective tissue dysplasia: anatomical, physiological, and morphological parallels]. / Patologiia sosudov v aspekte vnezapnoi smerti lits molodogo vozrasta i displaziia soedinitel'noi tkani: anatomo-fiziologicheskie i morfologicheskie paralleli.

Vascular pathology in young adults has during the last 10 years been diagnosed more often during forensic medical examination of sudden death. Major morphological alterations are revealed in cerebral vessels, coronary vessels, and at the level of the ascending portion of the aorta. Generally, in the young age there is no stenosing atherosclerosis inducing vascular lesions and the development of complications. It was determined that connective tissue dysplasia is pathology wherein weakness of the vascular wall is genetically preconditioned, thus promoting formation of vascular aneurysms and rupture of the latter under conditions of provoking factors such as going in for sports, physical loads, and psychoemotional stress.

Expression of Prx1 and Tcf4 is decreased in the diaphragmatic muscle connective tissue of nitrofen-induced congenital diaphragmatic hernia.

BACKGROUND/PURPOSE: Pleuroperitoneal folds (PPFs) are the source of the primordial diaphragm's muscle connective tissue (MCT), and developmental mutations have been shown to result in congenital diaphragmatic hernia (CDH). The protein paired-related homeobox 1 (Prx1) labels migrating PPF cells and stimulates expression of transcription factor 4 (Tcf4), a novel MCT marker that controls morphogenesis of the fetal diaphragm. We hypothesized that diaphragmatic Prx1 and Tcf4 expression is decreased in the nitrofen-induced CDH model. METHODS: Time-mated rats were exposed to either nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms were microdissected on D13, D15, and D18, and divided into control and nitrofen-exposed specimens. Gene expression levels of Prx1 and Tcf4 were analyzed by qRT-PCR. Immunofluorescence double staining for Prx1 and Tcf4 was performed to evaluate protein expression and localization. RESULTS: Relative mRNA expression of Prx1 and Tcf4 was significantly downregulated in PPFs (D13), developing diaphragms (D15) and fully muscularized diaphragms (D18) of nitrofen-exposed fetuses compared to controls. Confocal laser scanning microscopy revealed markedly diminished Prx1 and Tcf4 expression in diaphragmatic MCT of nitrofen-exposed fetuses on D13, D15, and D18 compared to controls. CONCLUSIONS: Decreased expression of Prx1 and Tcf4 in the fetal diaphragm may cause defects in the PPF-derived MCT, leading to development of CDH in the nitrofen model. LEVEL OF EVIDENCE: Level 2c (Centre for Evidence-Based Medicine, Oxford).

Frontal-view nasolabial soft tissue alterations after bimaxillary orthognathic surgery in Class III patients.

INTRODUCTION: The aim of this before-after clinical trial was to evaluate nasolabial soft tissue changes in the frontal plane after bimaxillary surgery. METHODS: A total of 20 skeletal Class III Iranian patients needing bimaxillary Le Fort I osteotomy plus mandibular setback surgery were enrolled in this trial. Patients underwent 4.02 ± 1.02 mm of maxillary advancement (Le Fort I osteotomy, 4.33 ± 1.21 mm in men, 3.81 ± 0.86 mm in women) and 7.13 ± 1.74 mm of mandibular setback (intraoral vertical ramus osteotomy, 7.71 ± 2.33 mm in men, and 6.74 ± 1.16 mm in women). Data were acquired via 2D frontal photographs. We compared pretreatment baseline (T 1), preoperative postorthodontic treatment (T 2), and postoperative (T 3) anthropometric measurements using repeated-measures ANOVA and Bonferroni tests (α = 0.05). RESULT: The 20 patients (12 men, 8 women) were aged 21.85 ± 1.75 years. Between T 1 and T 2, nasal width, cutaneous upper labial heights increased overall; cutaneous lower labial height decreased (P < 0.05). Between T 2 and T 3, nasal width, widths of the philtrum and mouth, cutaneous upper-lip height, vermilion height of the lower lip, lateral upper-lip height increased; the upper-lip vermilion height and cutaneous lower lip height decreased (P < 0.05). The changes ranged between 0.5 and 5 mm. CONCLUSION: The applied orthognathic surgery procedures might widen the alar base and mouth width. It might increase the lateral upper-lip height, vermilion height of the lower lip, and cutaneous and overall upper-lip heights while reducing upper-lip vermilion height and shortening the overall lower-lip height.

Síndrome de Ehlers-Danlos, variante sculocontractural. Informe de un caso / Ehlers-Danlos syndrome, musculocontractural variant. A case report / Síndrome de Ehlers-Danlos, variante musculocon-tractural. Informe de um caso

El síndrome de Ehlers-Danlos comprende un conjunto de trastornos hereditarios que comparten hiperextensibilidad de la piel, hipermovilidad articular y fragilidad tisular manifiesta como disminución de la fuerza de tensión y de la integridad de la piel y las articulaciones. La frecuencia de este síndrome, para todas las variantes combinadas, se ha estimado en 1 en 5000 a 1 en 10 000 personas. Sin embargo, se desconocen la prevalencia e incidencia exactas. Entre las variantes descritas de Ehlers-Danlos se incluye la musculocontractural, cuyas principales características son las siguientes: dismorfismo craneofacial típico, contracturas congénitas de los pulgares y los dedos, pie equinovaro, cifoescoliosis, hipotonía muscular, piel fina hiperextensible, facilidad para el desarrollo de equimosis, cicatrices atróficas, acrogeria, hipermovilidad de las articulaciones y problemas oculares. Se presenta un caso de dicha variante y se hace una breve revisión de la literatura.

Ehlers-Danlos syndrome comprises a group of hereditary disordes that share skin hyperextensibility, joint hipermobility and tissular fragility manifested as diminished tensile strenght and integrity of skin and joints. The estimated frequency, for the whole group, is 1 in 5.000 to 1 in 10.000 people. Nevertheless, the exact prevalence and incidence are unknown.One of the described subtypes of Ehlers-Danlos is the musculocontractural, whose primary characteristics include typical craneofacial dysmorphism, congenital thumb and fingers contractures, club foot, kyphoscoliosis, muscular hypotony, thin hyperextensible skin, easy bruising, atrophic scaring, acrogeria, joint hypermobility, and ocular problems. We present a case of this variant and a brief literature review.

A síndrome de Ehlers-Danlos compreende um conjunto de transtornos hereditários que compartilham hiperextensibilidade da pele, hipermobilidade articular e fragilidade tissular manifesta como diminuição da força de tensão e da integridade da pele e as articulações. A frequência desta síndrome, para todas as variantes combinadas, se há estimado em 1 em 5.000 a 1 em 10.000 pessoas. Embora, se desconhecem a prevalência e incidência exatas. Entre as variantes descritas de Ehlers-Danlos se inclui a musculocontractural, cujas principais características são as seguintes: dimorfismo craniofacial típico, contraturas congénitas dos polegares e os dedos, pé equinovaro, cifoescoliose, hipotonia muscular, pele fina hiperextensível, facilidade para o desenvolvimento de equimoses, cicatrizes atróficas, acrogeria, hipermobilidade das articulações e problemas oculares. Se apresenta um caso de dita variante e se faz uma breve revisão da literatura.

Effects of rapid maxillary expansion on facial soft tissues : Deviation analysis on three-dimensional images.

OBJECTIVE: Changes in soft tissue in various morphological regions of the face immediately after rapid maxillary expansion (RME) were examined using three-dimensional (3D) deviation analyses. PATIENTS AND METHODS: A total of 50 patients were included in the study; 25 patients (11 female and 14 male) presented with a unilateral or bilateral posterior crossbite malocclusion requiring RME. In addition, 25 patients (13 female and 12 male) were included as a control group. The mean ages of the study group and control group were 9.8 years (range 8.1-12.6 years) and 9.6 years (range 8.3-12.2 years), respectively. The 3D stereophotogrammetric images acquired immediately before the appliance was cemented and after expansion had been completed in the treatment group were compared using Rapidform software. The 3D deviation analyses were made for the complete face and in the upper and lower face, upper and lower lips and nose regions. The amount of negative and positive deviations and the mean deviations were examined on the facial meshes for the 95th percentiles. RESULTS: Immediately after RME, the mean absolute deviation over the complete face was 0.54 ± 0.16 mm. The mean change for the upper face was 0.42 ± 0.17 mm (mean positive deviation: 0.37 ± 0.17 mm; mean negative deviation: -0.48 ± 0.18 mm). The mean absolute deviation was 0.62 ± 0.28 mm in the upper lip and 0.60 ± 0.34 mm in the lower lip. In the nose area, the absolute deviation was 0.41 ± 0.21 mm (mean positive deviation: 0.39 ± 0.16 mm; mean negative deviation: -0.43 ± 0.26 mm). CONCLUSIONS: Changes in facial soft tissues in the upper face, lower face, nasal soft tissues, and lower and upper lip regions were observed after RME.

[Morphogenesis of connective tissue in patients with hydronephrosis caused by stricture of ureteric-pelvic segment of various etiology].

In patients, suffering hydronephrosis stages II-III, caused by the ureteric-pelvic segment (UPS) obstruction due to inborn failures of urinary system, the collagen types I and III ratio reduction, and in acquired obstruction--its enhancement, are noted in interstitium, renal parenchyma vessels and the UPS walls. While obstruction in patients due to inborn failures in vascular basal membranes a deficiency of collagen type IV and appearance of nontypical for vascular basal membranes intersticial collagen type Il are observed. In the acquired UPS, obstruction the, enhancement of content of collagen type IV is revealed only. These disorders are mostly pronounced in patients with the disease recurrence. There was proposed diagnostic coefficient of ratio between collagens types I and III in patients, suffering hydronephrosis, caused by obstruction of various etiology. In hydronephrosis, caused by the UPS stricture, the cytokines disbalance occurs, impacting processes of collagen formation.

Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.

Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints. However, no classic Ehlers-Danlos syndrome case has yet been associated with COL5A2 null alleles, and phenotypes that might result from such alleles are unknown. We describe mice with null alleles for the Col5a2. Col5a2(-/-) homozygosity is embryonic lethal at approximately 12 days post conception. Unlike previously described mice null for Col5a1, which die at 10.5 days post conception and virtually lack collagen fibrils, Col5a2(-/-) embryos have readily detectable collagen fibrils, thicker than in wild-type controls. Differences in Col5a2(-/-) and Col5a1(-/-) fibril formation and embryonic survival suggest that α1(V)3 homotrimers, a rare collagen V isoform that occurs in the absence of sufficient levels of α2(V) chains, serve functional roles that partially compensate for loss of the most common collagen V isoform. Col5a2(+/-) adults have skin with marked hyperextensibility and reduced tensile strength at high strain but not at low strain. Col5a2(+/-) adults also have aortas with increased compliance and reduced tensile strength. Results thus suggest that COL5A2(+/-) humans, although unlikely to present with frank classic Ehlers-Danlos syndrome, are likely to have fragile connective tissues with increased susceptibility to trauma and certain chronic pathologic conditions.

[Oral rehabilitation with metalloceramic restorations in patients with non-differentiated systemic connective tissue dysplasia].

False formation of connective tissues have a great influence on structure and function of organs and tissues of the human body. In prosthodontics, the changes in connective tissues greatly occur during clinical stages of preparing metal ceramic dentures. The algorithm of treatment patients with connective tissue dysplasia during metal ceramic dentures was developed and introduced into practical dentistry based on studying the morphology and functionality of dentition and clinical experience.

Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles.

Arthrogryposis has been the term used to describe multiple congenital contractures for over a century. It is a descriptive term and present in over 400 specific conditions. Responsible gene abnormalities have been found for more than 150 specific types of arthrogryposis. Decreased fetal movement is present in all affected individuals which leads to a variety of secondary deformations. Decreased fetal movement (fetal akinesia) is associated with increased connective tissue around the immobilized joint, skin dimpling overlying the immobilized joint, disuse atrophy of the muscles that mobilize the joint and abnormal surface of the joint depending on the immobilized position. Other frequently observed features include: micrognathia, mildly shortened limbs, intrauterine growth restriction, pulmonary hypoplasia and short and/or immature gut. Primary etiologies include neuropathic processes; myopathic processes; end-plate abnormalities; maternal illness, trauma and drugs; limitation of fetal space; vascular compromise; and metabolic disorders to the developing embryo/fetus.

[Peculiarities of the connective tissue metabolism in patients with hydronephrosis].

The connective tissue metabolism was investigated in patients, suffering hydronephrosis, caused by obstruction of various etiology of pelvio-ureteric segment (PUS) and ureter, which has a recurrent course. On the 21th day postoperatively the blood indices enhancement was revealed, what characterizes the disorder of collagen synthesis and degradation, including, free (FOP), proteinbinded (PRBOP) and peptidebinded (PEBOP) oxyproline. The changes noted are more pronounced in patients with the inborn obstruction of PUS and recurrent course of the disease. A new marker--the PRBOP to FOP levels ratio--was proposed for prognostication of stricture recurrence.

Extrinsic colonic obstruction by congenital fibrous band in an infant.

The finding of a congenital fibrous band during laparotomy for intestinal obstruction is extremely rare. Preoperative diagnosis is challenging and no characteristic radiological findings have been described. We report the case of a premature baby in whom incomplete intestinal obstruction was due to a congenital band originating from the duodeno-jejunal flexure and extending across the ascending colon.

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been carefully examined for the presence of connective tissue abnormalities, and based on findings, patients underwent genetic testing. Ancillary diagnostic studies included echocardiography, eye exam, and histopathological examinations of skin and dura biopsies in selected patients. We identified nine patients with heritable connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome and other unclassified forms. In seven patients, spontaneous CSF leak was the first noted manifestation of the genetic disorder. We conclude that spontaneous CSF leaks are associated with a spectrum of connective tissue abnormalities and may be the first noted clinical presentation of the genetic disorder. We propose that there is a clinical basis for considering spontaneous CSF leak as a clinical manifestation of heritable connective tissue disorders, and we suggest that patients with CSF leaks should be screened for connective tissue and vascular abnormalities.

Ritidoplastia em paciente de 11 anos como tratamento auxiliar da elastólise pós-inflamatória (cutis laxa) - desafios no tratamento / Rhytidoplasty in an 11 - year - old patient as adjuvant treatment for post inflammatory elastolysis and cutis laxa - challenges in the treatment

Cutis laxa is a rare morbidity, is caracterized as a connective tissue disorder manifested primarily by sagging cut and may affect other organs. The authors report a case of cutis laxa in a patient of 11 years old with the development of a senile fascia with pronounced ritidose perioral, periocular and nasolabial sulcus. Rhytidectomy was performed as an auxiliary treatment. The patient showed a good evolution of the postoperative scars with good quality and remarkable improvement in sagging of the midface and later recurrence of the same part in the follow-up evaluation two years. Patient and family were very pleased with the outcome. The surgical team, however, realized the limitation of the procedure and the need for additional treatment with auxiliaries and the like as peeling...

Cútis laxa é uma morbidade rara, caracterizada por ser uma desordem do tecido conjuntivo que se manifesta principalmente por flacidez cutânea, podendo acometer variavelmente outros órgãos. Os autores relatamum caso de cútis laxa em paciente de 11 anos que desenvolveu face senil com pronunciada ritidose perioral e periocular, bem como acentuação dos sulcos nasogenianos. Foi realizada ritidoplastia como tratamento cirúrgico. Apresentou boa evolução pós-operatória, com cicatrizes de boa qualidade e melhora notável na flacidez do terço médio da face e, posteriormente, recorrência parcial da mesma no acompanhamento tardio de dois anos. Paciente e familiares ficaram muito satisfeitos com o resultado. A equipe cirúrgica, entretanto, percebeu limitação do resultado cirúrgico e necessidade de complementação com tratamentos auxiliares como peelings e similares...

[Accommodation examination in myopia associated with nondifferentiated connective tissue dysplasia].

Features of accommodative response in children with myopia associated with nondifferentiated connective tissue dysplasia (NCTD) were studied using computered accommodography. A variety of accommodative response patterns were found in myopia associated with NCTD, that is indicative of a great functional potential of ciliary muscle. Theoretic side is discussed for normal accommodative response and for muscle fibers hyperfunction as well.