Skin Malformations Research Articles

The Frequency of Skin Lesions in Guilan Province, Iran

Introduction Skin tumors as one of the patient's most concerning health issues have a varied spectrum, some of which can be fatal. In this study, we aimed to evaluate the frequency of various skin lesions and the associated risk factors among patients. Methods This cross-sectional study was conducted from 2016 to 2021 on 559 skin lesions diagnosed by dermatology specialists. Demographical and clinical data and various skin lesions (skin malformations, benign, premalignant, and malignant tumors) were recorded and analyzed using IBM SPSS Statistics Version 21 based on a significance level < .05. Results The findings indicated an age-dependent increase in the prevalence of skin lesions. Females had a higher frequency of benign tumors, whereas males represented a higher rate of malignant tumors. About 53%, 6.8%, and 40.1% of skin lesions were benign, premalignant, and malignant tumors, respectively. Among detected tumors, seborrheic keratosis, actinic keratosis, and basal cell carcinoma were the most prevalent as benign, premalignant, and malignant tumors, respectively. The high level of diagnostic accuracy among clinical and histopathological findings illustrated a significant agreement (p < .05). Conclusion Our findings showed that malignant skin tumors were more prevalent in males and in patients with an upper age, which suggests more consideration for better preventive policies in these populations.

Ablepharon-macrostomia syndrome

Introduction. Ablepharon-macrostomia syndrome (AMS) — rare ectodermal dysplastic congenital disease. This syndrome ectodermal dysplasia due to genetic disorders includes malformations of skin, hair, nails, sweat glands, and teeth. AMS typical anomalies are mostly developed in the facial part of the skull and rarely in the internal organs. Characteristic lacks are or eyelid hypoplasia, oral defect (macrostomia), ear abnormalities, dry and rough skin, or excessive folds of skin, absence or sparse pieces of hair, delay intellectual and motor development, variable anomalies of mamillaae, genitalia, dactylion of the fingers and toes, short stature. 
 Aim: to consider, based on a clinical case, the effect of mutations in AMS on the formation of external genitalia.
 Materials and methods. A description of a clinical case of AMS in a 10-year-old patient admitted to the gynecological department is presented. Since birth, the child has been diagnosed with AMS at the place of residence. The patient is observed by a neurologist, ophthalmologist, otolaryngologist, maxillofacial surgeon.
 Results. Despite the characteristic clinical picture during external examination, difficulties may arise in the differential diagnosis for the gender due to the possible influence of mutations on the structure of the external genitalia.
 Conclusion. It is quite difficult to diagnose this pathology. The clinical picture may be different, which is why it is so important to conduct genetic testing in doubtful cases. This method allows identifying point mutations.

Effect of Embryonic Alcohol Exposure on Craniofacial and Skin Melanocyte Development: Insights from Zebrafish (Danio rerio).

Alcohol is a common addictive substance and prenatal alcohol exposure could cause fetal alcohol spectrum disorder (FASD) and can lead to various birth defects. The small teleost zebrafish (Danio rerio) has been identified as a fine animal model in developmental biology and toxicological research. Zebrafish models are widely used to study the harmful effects of alcohol and limited studies are available on the craniofacial and skin malformations associated with FASD. The present study attempts to investigate the effect of alcohol on early zebrafish embryonic development. The effects of prenatal alcohol exposure on neural crest cell-derived organ formation, including pharyngeal dentition, palatal bones and skin melanocytes were analysed. Whole-mount cartilage and bone staining and imaging techniques were applied to determine the effects of alcohol on the above-mentioned structures. The tooth size and shape were affected by alcohol exposure, but the number of teeth in the pharyngeal dentition was not affected. Only first-generation teeth showed size differences. The alcohol-exposed ethmoid bone, which is homologous to the human hard palate, was smaller and less dense in cell arrangement compared with the control medial ethmoid bone. The skin pigmentation defects included reduced melanocyte density, melanin contraction, smaller melanocyte surface area and aberrations in melanosome dispersion, revealing that alcohol significantly influenced and downregulated each and every step of the melanocyte developmental process. This descriptive study summarises the effects of alcohol on the development of neural crest cell-derived structures and highlights the importance of zebrafish in studying the phenotypic characteristics of fetal alcohol spectrum disorder.

Three-dimensional representation of triple spectral line imaging data as an option for noncontact skin diagnostics

.Significance Skin malformations in dermatology are mostly evaluated subjectively, based on a doctor’s experience and visual perception; an option for objective quantitative skin assessment is camera-based spectrally selective diagnostics. Multispectral imaging is a technique capable to provide information about concentrations of the absorbing chromophores and their distribution over the malformation in a noncontact way. Conversion of spectral images into distribution maps of chromophores can be performed by means of the modified Beer–Lambert law. However, such distribution maps represent only single specific cases, therefore, some extensive method for data comparison is needed.Aim This study aims to develop a more informative approach for identification and characterization of skin malformations using three-dimensional (3D) representation of triple spectral line imaging data.Approach The 3D-representation method is experimentally tested on eight different skin pathology types, including both benign and malignant pathologies; an imaging device ensuring uniform three laser line (448, 532, and 659 nm) illumination is used. Three spectral line images are extracted from a single snapshot RGB image data, with subsequent calculation of attenuation coefficients for each working wavelength at every image pixel and represented as 3D graphs. Skin chromophore content variations in malformations are represented in a similar way.ResultsClinical measurement results for 99 skin pathologies, including basal cell carcinomas, melanoma, dermal nevi, combined nevi, junctional nevi, blue nevi, seborrheic keratosis, and hemangiomas. They are presented as 3D spectral attenuation maps exhibiting specific individual features for each group of pathologies. Along with intensity attenuation maps, 3D maps for content variations of three main skin chromophores (melanin, oxyhemoglobin, and deoxyhemoglobin), calculated in frame of a model based on modified Beer–Lambert law, are also presented. Advantages and disadvantages of the proposed data representation method are discussed.ConclusionsThe described 3D-representation method of triple spectral line imaging data shows promising potential for objective quantitative noncontact diagnosis of skin pathologies.

Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations and a cerebral abscess as a complication: A case report

Introduction: Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a relatively common, under-recognized autosomal-dominant disorder that results from multisystem vascular dysplasia. It is characterized by telangiectasis and arteriovenous malformations of skin, mucosa, and viscera. Case Report: A 26-year-old man presented with an 8-day history of headache, fever, cough, right hemiparesis, motor dysphasia, and dysgraphia. The urgent brain computed tomography (CT) scan revealed a bulky rounded left frontal lobe lesion, with peripheral contrast enhancement and marked perilesional edema, indicating a brain abscess or metastasis. A brain magnetic resonance imaging showed an intra-axial hypovascular round enhancing left frontal lobe lesion, with pronounced perilesional edema. Laboratory findings discovered severe polycythemia with normal level of erythropoietin and gas analysis of blood revealed hypoxemia of secondary cause. Computed tomography of the lungs suggested pulmonary arteriovenous malformations (AVMs) in the right and left lung. Contrast-enhanced chest CT scan confirmed AVM of the lungs, while abdominal CT scan ruled out AVM of the liver. The brain abscess was treated neurosurgically. The patient reported positive family history of epistaxis. Conclusion: Brain abscess may be the first manifestation of HHT and early clinical recognition of HHT in patients with positive family history of epistaxis may help to prevent complications. Keywords: Arteriovenous malformations, Brain abscess, Hereditary hemorrhagic telangiectasia, Hypoxemia, Polycythemia

Skin chromophore mapping by smartphone RGB camera under spectral band and spectral line illumination.

.Significance: Multispectral imaging enables mapping of chromophore content changes in skin neoplasms, which helps to diagnose a pathology. Different types of light sources can be used for the imaging. Design of laser-based illuminators is more complicated and, consequently, they are more expensive than LED-based illuminators. On the other hand, spectral line illumination has the advantage of less complicated calculations, since only the discrete maximum wavelengths need to be considered. Spectral band and spectral line approaches for multispectral skin diagnostics have not been compared so far. This can help to evaluate the accuracy and effectiveness of both approaches.Aim: To compare two specific illumination modalities—spectral band and spectral line illumination—from the point of performance for mapping of in vivo skin chromophores.Approach: Three spectral images of the same skin malformations were captured by a smartphone RGB camera with two different add-on illuminators comprising LED emitters and laser emitters, respectively. Five types of benign skin neoplasms were included in our study. Concentrations of skin melanin, oxy- and deoxy-hemoglobin at image pixel groups were calculated using the Beer–Lambert law.Results: Skin chromophore maps and statistical analysis of mean concentrations’ changes in the neoplasms compared to the surrounding skin are presented and discussed. The data of the laser emitters led to significantly higher ( times) increase of the oxy-hemoglobin values in vascular neoplasms and much lower deoxy-hemoglobin values, if compared to the data obtained by the LED emitters.Conclusions: Analysis of the obtained chromophore distribution maps and concentration variations in neoplasms led to conclusion that the spectral line illumination approach is more appropriate for this application. Considering only the peak wavelengths of illumination spectral bands leads to essentially different results if compared to those obtained by spectral line illumination and may cause misinterpretations in the clinical assessment of skin neoplasms.

Supraumbilical midline raphe and infantile hemangioma.

Midline skin malformations are very common in the newborn; in most cases, the latter are isolated skin lesions of little clinical importance; on the other hand, in some cases they are a clue to the diagnosis of possible malformations of the underlying tissues with severe prognosis. An example of this second occurrence is the supraumbilical raphe. Closure on the midline occurs around the eighth week of gestation when the mesoderm merges on the midline. When this mesodermal fusion does not occur, the overlying ectodermal epithelium undergoes necrosis. The supraumbilical raphe is believed to result from this lack of midline ecto-mesodermal interaction, followed by scar repair (6). The umbilical raphe can be an isolated skin defect or associated with sternal cleft, Cantrell pentalogy with cardiac malformations up to ectopia cordis, vascular dysplastic syndrome and PHACES syndrome (4). The supraumbilical raphe can be associated with hemangiomas in the absence of other malformations (2). However, other malformations are more frequently present, as in PHACES syndrome. In the latter case, the umbilical raphe can represent the first and only sign at birth; hemangioma can in fact manifest itself after days or weeks, while posterior fossa malformations and encephalic and cervical vascular dysplasias can be only unveiled with imaging techniques; if ignored, vascular dysplasias can be unveiled even after decades by stroke episodes (1). These cases reopen the discussion of the relationship between malformations and hemangiomas. Although usually independent, it is possible that vascular malformations may be responsible for hemangioma: in these cases the hemangioma could be the expression of an exaggerated angiogenic response to the condition of hypoxia caused by vascular dysplasia (5). However, it is also possible that the same pathogenetic factor, maybe of maternal origin, acting at different times, could be responsible for both early malformations, which occur during the first three months of gestation, and hemangiomas, which occur in the perinatal period. There are data from the literature (3) that really show the presence in the same family of limb defects secondary to vascular malformations in some relatives and hemangiomas in others. The actual case series confirms that midline supraumbilical raphe and hemangioma may be present in the same individual as in the first case. However, it also emphasizes that the two disorders can occur separately in two twins.

Riga Group’s recent results on laser applications for skin diagnostics

The laser-related activities are reviewed of the Biophotonics Laboratory at UL Institute of Atomic Physics and Spectroscopy following the previous ICSQE-2018 conference. Four recent research projects are considered, including one EC Horizon-2020 project, two European Regional Development Fund (ERDF) projects and one project funded by the Latvian Council of Science (LCS). The projects are generally aimed at developing new optical methods and technologies for non-invasive in-vivo skin assessment to facilitate the early diagnostics of skin malformations (including cancers). Most of the projects explore novel approaches of camera-based biomedical imaging to the clinical diagnostics and recovery monitoring.

A literature review of microvascular proliferation in arteriovenous malformations of skin and soft tissue

Arteriovenous malformations (AVM) are defined as being quiescent vascular masses composed of mature vessels. However, recent studies reported areas of microvascular proliferation (MVP) in AVM, indicating a process of angiogenesis. As this finding questions the previous definition, the primary objective of this review was to evaluate whether angiogenesis occurs in vascular malformations of skin and soft tissue, and second, to identify potential factors involved in MVP.Due to the multifaceted nature of this subject, a hermeneutic methodology was used to select articles that were likely to provide a deeper understanding of MVP in vascular malformations. Through citation tracking and database searching in PubMed and Web of Science, relevant articles were identified. All study designs concerning occurrence of MVP in AVM of skin and soft tissue in all age groups were included in the study. The Newcastle-Ottawa scale was used for quality assessment.16 studies were included in this review which reported occurrence of MVP areas in between the otherwise mature vessels of vascular malformations. In these studies, angiogenesis was reported only in AVM-type of vascular malformations. Increased levels of pro-angiogenic factors were also reported and proliferation was found most prominently during adolescence. Finally, several types of hormone receptors also have been described in tissues of AVM.Overall, the reviewed data support occurrence of active angiogenesis, highlighted by the presence of MVP in the arteriovenous type of vascular malformations, and a possible concurrent lesion progression towards a higher Schobinger stage of clinical severity. The relative scarcity of data at present implies that further research is required to elucidate the nature of MVP in AVM, which could have implications for developing targeted pharmacotherapy.Active angiogenesis caused by MVP in AVM patients is known to be correlating to clinical symptoms and contributing to the progression of the disease, recurrence rate, and patient's quality of life.

Spectral Line Reflectance and Fluorescence Imaging Device for Skin Diagnostics

The multi-spectral-line imaging concept, which was recently implemented for the snapshot mapping of three main skin chromophores—melanin, oxy-hemoglobin, and deoxy-hemoglobin, is further explored for the snapshot capturing of four spectral line images at wavelengths of 450, 523, 638, and 850 nm, with the consecutive acquiring of a 405 nm excited fluorescence image. A corresponding laser-based prototype device was designed and assembled. Processing of the mentioned five images enables obtaining distribution maps of four skin chromophores within the malformation and comparing their mean fluorescence intensity with that of the surrounding healthy skin. This set of information is helpful for dermatologists, cosmetologists, oncologists, and other healthcare professionals to quantify the diagnosis of skin malformations (including cancers) and to follow up the recovery process after therapy. This paper describes the design of the developed proof-of-concept prototype device and initial test results.

MON-077 A Case of Growth Hormone Deficiency in Sturge-Weber Syndrome

Introduction: Sturge-Weber syndrome (SWS) is a congenital neurocutaneous disorder characterized by a port wine stain on the skin in the distribution of the ophthalmic branch of the trigeminal nerve (vascular malformation of skin), glaucoma, and leptomeningeal angiomas. Central nervous system abnormalities may increase the risk of hypothalamic-pituitary dysfunction. One previous study showed that SWS patients had higher prevalence of growth hormone deficiency than the general population although the etiology is unclear. This case report describes a patient who was initially diagnosed with SWS and later confirmed with complete growth hormone deficiency.Case: A 7-year-and-11-month-old boy who had been diagnosed with SWS visited a tertiary center for the evaluation of short stature [111.1cm (<3 percentile)]. He was born at 37 weeks of gestational age with birth weight of 3230g by cesarean section and had a port wine nevus on the right side of the face since birth. He had a history of epilepsy first occurring at 6 months of age when he was diagnosed with SWS. There were two more attacks of seizure till 32 months of age. Brain magnetic resonance imaging revealed leptomeningeal angioma, choroidal hemangioma, and diffuse brain atrophy. He was diagnosed with glaucoma and had been managed with surgery and medication. There was no family history of SWS or any other brain anomaly. His mid-parental height was 167.7cm. All blood tests were normal including complete blood count, chemistry, and thyroid function test. Hand x-ray showed delayed bone age. Cocktail test was performed for the evaluation of short stature. As a result, he was diagnosed with complete growth hormone deficiency (peak GH on L-dopa test: 2.46 ng/mL, peak GH on glucagon test: 3.71 ng/mL). The recombinant growth hormone therapy was started at the age of 8 years and 1 month. He showed good response to GH treatment. His height became 125.8cm at the age of 9 years and 5 months (height velocity 9.2 cm/year), and 134.3cm at the age of 10 years and 6 months.Conclusion: We experienced a case with Sturge-Weber syndrome and complete growth hormone deficiency which was successfully managed by recombinant growth hormone therapy. It may be better to consider the possibility of GH deficiency even if there are certain conditions that affect the growth itself.

Hypotonic infant with Pallister–Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations

Pallister-Killian syndrome (PKS) is a rare genetic developmental disorder characterized, by intellectual disability, seizures, streaks of hypo- or hyperpigmentation and characteristic dysmorphic features. PKS is characterized by the presence of cytogenetic abnormality in form of a supernumerary isochromosome 12p, in a tissue limited mosaicism. The isochromosome 12p is usually not detected in karyotype done from peripheral blood. Presence of patchy pigmentary skin lesions suggest the possibility of mosaicism and karyotype from skin is done which clinches the diagnosis. We describe an infant with severe hypotonia in whom trisomy 12p was detected bychromosomal microarray performed on peripheral blood. The karyotype from blood was normal and combining this information with three copies of 12p in microarray suggests the possibility of tetrasomy12p in mosaic form. The infant did not have any skin patchy pigmentary changes and malformations and hence, the diagnosis of PKS was not clinically suspected. Cytogenetic microarray is the first test for evaluation of cases with developmental delay and intellectual disability, PKS diagnosis may come as a surprise in unsuspected caseswithout characteristic skin pigmentary abnormality and malformations.

Machine-Learning Classification of Port Wine Stain With Quantitative Features of Optical Coherence Tomography Image

Port wine stain (PWS) is the benign congenital capillary malformation of skin, occurring in 0.3% to 0.5% of the population. In this paper, we build two automated support vector machine (SVM) based classifiers by extracting quantitative features from normal and PWS tissue images recorded by optical coherence tomography (OCT). We use both full feature set and simplified feature set for training. Accuracy of 92.7%, sensitivity of 92.3% and specificity of 93.8% were obtained for classifier with full feature set. Accuracy of 92.7%, sensitivity of 94.9% and specificity of 87.5% were obtained for classifier with simplified feature set. Our results suggest that extracting quantitative features from optical coherence tomographic images could be a potentially powerful method for accurately and automatically identifying PWS margins during laser therapy.

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in EDA, EDAR, EDARADD, and TRAF6, cause the phenotypic expression of HED. Genetic alterations in EDA and WNT10A cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in WNT10A in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in EDAR in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in EDA in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations.

Inborn pigment skin malformation in a child: practice of diagnostics

Background . Pediatric skin melanoma is very rare, it differs in a number of features from adult skin melanoma. Early diagnostics of this highly malignant tumor is a key prerequisite for effective treatment. The same methods are commonly used which are applied for diagnostics of adult melanoma in the course of diagnostics of skin melanoma in children. Appropriateness of this approach deserves validation. The aim of this work is to describe procedures of diagnostics of a pigment skin malformation in a child. Case report . Girl aged 5 months entered pediatric clinic of the FSBI “N.N. Blokhin National Medical Research Center of Oncology” of the Ministry of Health of the Russian Federation with inborn tumor in a wrist joint area. Hemangioma had been suggested formerly at residence place. In the course of diagnostics in N.N. Blokhin National Medical Research Center of Oncology the following complex of approaches was used: ultrasound scanning, magnetic resonance imaging, trepanobiopsy, open biopsy. Tissues from the latter were examined histologically on hematoxylin and eosin — stained slides. Immunohistochemical study was also done by means of revelation of determinants of cell proliferation, antigens of melanocytic differentiation, proteins commonly used as strictly melanoma markers as well as antigens of tissue compatibility. The conclusion was done about nodular pigment cell skin melanoma. Excision of the tumor was carried out. Relapse-free period lasts for 12 months at present. Conclusion . Procedures are described of diagnostics and treatment of a 5-month-old girl with skin melanoma in a wristjoint area. In the course of diagnostics approaches were used which are commonly applied when identifying a more frequent and better explored adult skin melanoma. Prolongation of studies is desirable to validate these approaches for diagnostics of pediatric pigment skin tumors.

Genetic mutation of Frem3 does not causeFraser syndrome in mice.

QBRICK, FRAS1, and FREM2 compose a family of extracellular matrix proteins characterized by twelve consecutive CSPG repeats and single or multiple Calx-β motifs. Dysfunction of these proteins have been associated with Fraser syndrome, which is characterized by malformation of skin, eyes, digits, and kidneys. FREM3 is another member of the 12-CSPG protein family. However, it remains unknown whether genetic dysfunction of FREM3 also causes Fraser syndrome or another developmental disorder. Here we investigated a Frem3 mutant mouse line generated by CRISPR/Cas9-mediated genome editing. The FREM3 mutant homozygotes were born at the expected Mendelian ratio and did not possess any defects characteristic of Fraser syndrome. These results indicate that the dysfunction of FREM3 is not associated with Fraser syndrome.

Characterization of Laser-Resistant Port Wine Stain Blood Vessels Using In Vivo Reflectance Confocal Microscopy.

Port wine stain (PWS) is a congenital vascular malformation of the human skin. Laser is the treatment of choice for PWS. Laser-resistant PWS is one crucial factor accounting for inadequate treatment outcome, which needs to be fully characterized. This study aims to quantitatively characterize the morphology of laser-resistant PWS blood vessels in the upper papillary dermis using in vivo reflectance confocal microscopy (RCM). A total of 42 PWS subjects receiving laser treatment from August 2016 through July 2018 were enrolled into this study. Thirty-three subjects had facial PWS; nine had extremity PWS. All subject's PWS received multiplex 585/1,064 nm laser treatment. RCM images were taken before and after treatment. The density, diameter, blood flow, and depth of PWS blood vessels were analyzed. We found 44.4% PWS on the extremities (four out of nine subjects) were laser-resistant, which was significantly higher (P < 0.001) when compared with those PWS on the face (15.2%, 5 out of 33 subjects). The laser-resistant facial PWS blood vessels had significantly higher blood flow (1.35 ± 0.26 U vs. 0.89 ± 0.22 U, P < 0.001), larger blood vessel diameters (109.60 ± 18.24 µm vs. 84.36 ± 24.04 µm, P = 0.033) and were located deeper in the skin (106.01 ± 13.87 µm vs. 87.82 ± 12.57 µm, P < 0.001) in the skin when compared with laser-responsive PWS on the face. The average PWS blood vessel density (17.01 ± 4.63/mm2 vs. 16.61 ± 4.44/mm2 , P = 0.857) was not correlated to the laser resistance. Laser-resistant PWS blood vessels had significantly higher blood flow, larger diameters, and were located deeper in the skin. RCM can be a valuable tool for a prognostic evaluation on laser-resistant lesions before treatment, thereby providing guidance for tailored laser treatment protocols, which may improve the therapeutic outcome. The limitations for this study include relative small sample size and acquisitions of different blood vessels before and after 2 months of treatment. Lasers Surg. Med. © 2019 Wiley Periodicals, Inc.

Successful Treatment of Hereditary Hemorrhagic Telangiectasia With Octreotide

Hereditary Hemorrhagic Telangiectasia (HHT) also known as Osler Weber Rendu syndrome is an underdiagnosed autosomal dominant disorder that results from multisystem vascular dysplasia and is characterized by telangiectasias and arteriovenous malformations (AVM) of skin, mucosa and internal organs. Laser coagulation is the mainstay of treatment for symptomatic AVM. In addition, various medical therapies such as antiangiogenics, antifibrinolytics and hormones have been endeavored with variable outcomes. Here, we present a case report of HHT with favorable response to a somatostatin analogue; a 74-year-old male diagnosed with HHT at the age of 9. Patient has been suffering from chronic anemia due to recurrent nasal and gastrointestinal bleeding. He has undergone numerous endoscopic ablations of AVMs in addition to receiving oral/IV iron replacement and frequent blood transfusions. Since excessive AVM ablations and blood transfusion were insufficient in controlling the patient's symptoms and significantly compromised his quality of life, he was started on intramuscular octreotide (every 28 days) as a vasoactive agent. Following octreotide initiation, there has been a significant improvement in the patient's clinical course as evidenced by the absence of melena, significant decrease in number of transfusions and a steady increase in the hemoglobin level. In the six months preceding octreotide initiation, patient was averaging 4.7 blood transfusions per month; following octreotide initiation, he has averaged 0.7 transfusions each month, including the setting of plastic surgery during this time frame. In the six months prior to octreotide, patient underwent three endoscopic procedures for ablation of AVMs, but following octreotide he has not required further endoscopic interventions and his hemoglobin has remained above 8. To the best of our knowledge, this is the first case of HHT successfully treated with Octreotide.

Syndromic sebaceous nevus: current findings.

Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. In the adult patient, tumors (usually benign) develop from sebaceous nevus. Their surgical excision during childhood can give a better result in terms of the definitive scar. The aim of this study is to analyze our cases of syndromic sebaceous hamartoma, perform a review of the existing literature, and propose guidelines for the therapeutic plan. This is a retrospective study reviewing the cases of syndromic sebaceous nevus treated in the Department of Orthopedic Plastic Pediatric Surgery in Montpellier, France, and the Department of Pediatric Surgery in Lausanne, Switzerland, between 1994 and 2016. The files of six patients with syndromic sebaceous nevus were analyzed. The average age at the first consultation was 4 months. The location was craniofacial in all cases. Cerebral radiological imaging was performed on all patients; two showed abnormal findings. Four patients underwent ophthalmic examination, which all revealed abnormalities. Three patients had other associated malformations. Three patients presented with epilepsy or learning difficulties in the course of follow-up. All patients presenting with extensive sebaceous nevus of the craniofacial region should benefit from cerebral imagery and ophthalmic examination since there is a very high probability of associated abnormalities. The developmental problems encountered could not be definitively associated with the skin malformations.

Multispectral, Fluorescent and Photoplethysmographic Imaging for Remote Skin Assessment.

Optical tissue imaging has several advantages over the routine clinical imaging methods, including non-invasiveness (it does not change the structure of tissues), remote operation (it avoids infections) and the ability to quantify the tissue condition by means of specific image parameters. Dermatologists and other skin experts need compact (preferably pocket-size), self-sustaining and easy-to-use imaging devices. The operational principles and designs of ten portable in-vivo skin imaging prototypes developed at the Biophotonics Laboratory of Institute of Atomic Physics and Spectroscopy, University of Latvia during the recent five years are presented in this paper. Four groups of imaging devices are considered. Multi-spectral imagers offer possibilities for distant mapping of specific skin parameters, thus facilitating better diagnostics of skin malformations. Autofluorescence intensity and photobleaching rate imagers show a promising potential for skin tumor identification and margin delineation. Photoplethysmography video-imagers ensure remote detection of cutaneous blood pulsations and can provide real-time information on cardiovascular parameters and anesthesia efficiency. Multimodal skin imagers perform several of the abovementioned functions by taking a number of spectral and video images with the same image sensor. Design details of the developed prototypes and results of clinical tests illustrating their functionality are presented and discussed.