Diagnosis and Management of Skin Diseases, Related Disorders and Their Comorbidities

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 March 2023) | Viewed by 29903

Special Issue Editors

1. Clinical Department, Dermatology, Faculty of Medicine and Pharmacy, Dunarea de Jos University, Galati, Romania
2. Saint Parascheva Clinical Hospital of Infectious Diseases, Head of the Dermatology Department, Galati, Romania
3. Multidisciplinary Integrated Center of Dermatological Interface Research (MICDIR), Galati, Romania
Interests: demodex; endosymbionts; cutaneous microbiome; integrative medicine; optical coherence tomography; dermoscopy; confocal microscopy ; cutaneous comorbidities; skin cancer
Special Issues, Collections and Topics in MDPI journals
National Institute of Diabetes, Nutrition and Metabolic Diseases, N.C. Paulescu, Bucharest, Romania
Interests: integrative medicine; complementary and alternative medicine; homeopathy; ulcers, diabetes and skin; koebner phenomenon; field cancerisation; history of dermatology; philosophy in medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The new and recently acquired data in dermatovenereology suggest that this specialty continues to occupy an important place in Medicine. Medical history and clinical examination, followed by non-invasive imaging or blood tests or the exploration of skin structures and their pathological change sallow pathologists to better understand, detect, or define diseases of the skin. We clinicians and researchers are constantly viewing cutaneous signs and symptoms as a window into the systemic state of the human body. Many diseases thought to be localized to the skin are now considered part of a systemic involvement. Each of our patients is unique, has his own comorbidities and anatomic or physiologic particularities. There are also individual aspects regarding the appearance, evolution, and prognosis of cutaneous skin diseases, as well as their response to various treatments. Comorbidities of skin diseases are very important. Their management requires a good interdisciplinary collaboration of all medical and surgical specialties. Novel treatments and procedures are available for various skin conditions, including various medical treatments, surgical, cosmetic, and physiotherapeutic procedures. Drugs, of both plant and chemical origin, can produce systemic or skin adverse reactions. Sometimes, if classic therapy is not working or is not tolerated, off-the-label drugs or complementary and alternative medicine methods are needed, as part of an integrative medicine treatment. The new perspectives offered by translational medicine and research about the microbioma, endosymbionts, inflammatory molecules, diagnostics, treatments, and observations of comorbidities, complications, and their management are improving the standard of skin care placing it in the context of personalized medicine and care. This Special Issue of Diagnostics entitled “Diagnosis and Management of Skin Diseases, Related Disorders and Their Comorbidities” aims to collect and present data about the most recent developments in the field. We will welcome review and research articles, case reports, protocols, short communications, interesting images. I propose for the purpose of scientific debate, to also submit Comments or Replies (maximum 500 words, 5 authors, and 10 references, no abstract) about interesting observations published in Diagnostics in 2019 or 2020, or about Special Issue published articles, sent within 60 days after the online publication of the article of interest from this Special Issue.

I look forward to receiving your articles.

Prof. Dr. Alin Laurentiu Tatu
Dr. Lawrence Chukwudi Nwabudike
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Dermatology Venerology
  • Diagnosis
  • Biomarkers
  • Imaging
  • Adverse Reactions
  • Histopathology
  • Cutaneous Comorbidities Complication
  • Therapy
  • Management
  • Clinical Trials

Published Papers (11 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

Jump to: Review, Other

11 pages, 858 KiB  
Article
Risk of Prediabetes and Diabetes in Oral Lichen Planus: A Case–Control Study according to Current Diagnostic Criteria
by Lucía Rodríguez-Fonseca, Santiago Llorente-Pendás and María García-Pola
Diagnostics 2023, 13(9), 1586; https://doi.org/10.3390/diagnostics13091586 - 28 Apr 2023
Cited by 1 | Viewed by 1363
Abstract
Objective: To estimate the prevalence of prediabetes and diabetes in patients with oral lichen planus (OLP). Methods: Prospective cohort, including consecutive patients diagnosed clinically and histologically with OLP from 2018 to 2022. Patients and controls were matched by age and gender. Fasting plasma [...] Read more.
Objective: To estimate the prevalence of prediabetes and diabetes in patients with oral lichen planus (OLP). Methods: Prospective cohort, including consecutive patients diagnosed clinically and histologically with OLP from 2018 to 2022. Patients and controls were matched by age and gender. Fasting plasma glucose value collection from all patients. Multivariate regression analysis evaluated the relationship between prediabetes and diabetes variables according to current diagnostic criteria. Results: The sample comprised 275 patients (207 women; 75.3%), mean age 59.60 ± 12.18 years for both groups. Prediabetes was diagnosed according to the American Diabetes Association (ADA, 100–125 mg/dL), in 21.45% of OLP patients (59/275) and 14.55% (40/275) of control patients (p = 0.035). Patients with the atrophic-erosive form exhibited stronger association with taking oral antidiabetics (p = 0.011). Multivariate analysis showed that being over >60 years and having a cutaneous location was associated with ≥3 sites (OR 1.81 and OR 2.43). ADA prediabetes and oral antidiabetics drugs increased the probability of OLP (OR 1.60 (1.04–2.51), p = 0.03 and OR 2.20 (1.18–4.69), p = 0.017) after adjustment for sex and age. Conclusions: Because glycemia 100–125 mg/dL was associated with OLP, testing serum fasting plasma glucose seems reasonable in order to prevent development of diabetes and deal with possible complications until new studies are complete. Full article
Show Figures

Figure 1

14 pages, 9320 KiB  
Article
High-Frequency Ultrasound in Diagnosis and Treatment of Non-Melanoma Skin Cancer in the Head and Neck Region
by Tiberiu Tamas, Cristian Dinu, Lavinia Manuela Lenghel, Emil Boțan, Adela Tamas, Sebastian Stoia, Daniel Corneliu Leucuta, Simion Bran, Florin Onisor, Grigore Băciuț, Gabriel Armencea and Mihaela Băciuț
Diagnostics 2023, 13(5), 1002; https://doi.org/10.3390/diagnostics13051002 - 06 Mar 2023
Cited by 3 | Viewed by 1938
Abstract
Non-melanoma skin cancer is one of the most frequently diagnosed cancers in the human body and unfortunately the incidence continues to increase. NMSC is represented by the basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs), which are the most prevalent forms, and [...] Read more.
Non-melanoma skin cancer is one of the most frequently diagnosed cancers in the human body and unfortunately the incidence continues to increase. NMSC is represented by the basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs), which are the most prevalent forms, and basosquamous cell carcinomas (BSC) together with Merkel cell carcinoma (MCC), which are rare types but with a very aggressive pattern and poor prognosis. The pathological diagnosis is hard to assess without a biopsy, even by the dermoscopy. Moreover, the staging can be problematic because there is no access clinically to the thickness of the tumor and the depth of the invasion. The aim of this study was to evaluate the role of ultrasonography (US), which is a very efficient imaging method, non-irradiating and cheap, in diagnosis and treatment of non-melanoma skin cancer in the head and neck region. Thirty-one patients with highly suspicious malignant lesions of the head and neck skin were evaluated in the Oral and Maxillo-facial Surgery Department and Imaging Department in Cluj Napoca, Romania. All tumors were measured with three transducers: 13 MHz, 20 MHz and 40 MHz. Doppler examination and elastography were also used. The length, width, diameter, thickness, the presence of necrosis, status of regional lymph nodes, the presence of hyperechoic spots, strain ratio and vascularization were all recorded. After that, all patients were treated by surgical resection of the tumor and reconstruction of the defect. Immediately after surgical resection, all tumors were measured again after the same protocol. The resection margins were evaluated by all three types of transducers in order to detect malignant involvement and the results were compared with the histopathological report. We found that the 13 MHz transducers offered a big picture of the tumor but the level of details, in the form of the presence of the hyperechoic spots, is reduced. We recommend this transducer for evaluation of surgical margins or for the large skin tumors. The 20 and 40 MHz transducers are better for viewing the particularities of malignant lesions and for an accurate measurement; however, in the case of large size lesions, assessing all three dimensions of the tumor can be difficult. The intralesional hyperechoic spots are present in case of BCC and they can be used for differential diagnosis of BCC. Full article
Show Figures

Figure 1

14 pages, 2870 KiB  
Article
Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum
by Klára Farkas, Szabolcs Bozsányi, Dóra Plázár, András Bánvölgyi, Luca Fésűs, Pálma Anker, Sára Zakariás, Ilze Lihacova, Alexey Lihachev, Marta Lange, Tamás Arányi, Norbert M. Wikonkál, Márta Medvecz and Norbert Kiss
Diagnostics 2021, 11(2), 260; https://doi.org/10.3390/diagnostics11020260 - 08 Feb 2021
Cited by 9 | Viewed by 2810
Abstract
Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications. In our present study, in addition to dermoscopy, we introduced novel [...] Read more.
Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications. In our present study, in addition to dermoscopy, we introduced novel techniques, autofluorescence (AF) and diffuse reflectance (DR) imaging for the assessment of affected skin sites of five PXE patients. PXE-affected skin areas in most skin sites showed a previously observed pattern upon dermoscopic examination. With the novel imaging, PXE-affected skin lesions displayed high AF intensity. During our measurements, significantly higher mean, minimum and maximum AF intensity values were found in areas of PXE-affected skin when compared to uninvolved skin. Conversely, images acquired with the use of 660 and 940 nm illumination showed no mentionable difference. Our results demonstrate that AF imaging may be used in the in vivo diagnostics and quantification of the severity of the skin lesions of PXE patients. In addition, it is a safe, fast and cost-effective diagnostic method. AF imaging may be also used to objectively monitor the efficacy of the possible novel therapeutic approaches of PXE in the future. Full article
Show Figures

Figure 1

13 pages, 2213 KiB  
Article
AK-DL: A Shallow Neural Network Model for Diagnosing Actinic Keratosis with Better Performance than Deep Neural Networks
by Liyang Wang, Angxuan Chen, Yan Zhang, Xiaoya Wang, Yu Zhang, Qun Shen and Yong Xue
Diagnostics 2020, 10(4), 217; https://doi.org/10.3390/diagnostics10040217 - 13 Apr 2020
Cited by 17 | Viewed by 3164
Abstract
Actinic keratosis (AK) is one of the most common precancerous skin lesions, which is easily confused with benign keratosis (BK). At present, the diagnosis of AK mainly depends on histopathological examination, and ignorance can easily occur in the early stage, thus missing the [...] Read more.
Actinic keratosis (AK) is one of the most common precancerous skin lesions, which is easily confused with benign keratosis (BK). At present, the diagnosis of AK mainly depends on histopathological examination, and ignorance can easily occur in the early stage, thus missing the opportunity for treatment. In this study, we designed a shallow convolutional neural network (CNN) named actinic keratosis deep learning (AK-DL) and further developed an intelligent diagnostic system for AK based on the iOS platform. After data preprocessing, the AK-DL model was trained and tested with AK and BK images from dataset HAM10000. We further compared it with mainstream deep CNN models, such as AlexNet, GoogLeNet, and ResNet, as well as traditional medical image processing algorithms. Our results showed that the performance of AK-DL was better than the mainstream deep CNN models and traditional medical image processing algorithms based on the AK dataset. The recognition accuracy of AK-DL was 0.925, the area under the receiver operating characteristic curve (AUC) was 0.887, and the training time was only 123.0 s. An iOS app of intelligent diagnostic system was developed based on the AK-DL model for accurate and automatic diagnosis of AK. Our results indicate that it is better to employ a shallow CNN in the recognition of AK. Full article
Show Figures

Figure 1

Review

Jump to: Research, Other

27 pages, 1864 KiB  
Review
MRI Findings in Axial Psoriatic Spondylarthritis
by Loredana Sabina Pascu, Nicolae Sârbu, Andrei Vlad Brădeanu, Daniela Jicman (Stan), Madalina Nicoleta Matei, Mihaela Ionela Sârbu, Doina Carina Voinescu, Aurel Nechita and Alin Laurențiu Tatu
Diagnostics 2023, 13(7), 1342; https://doi.org/10.3390/diagnostics13071342 - 04 Apr 2023
Cited by 3 | Viewed by 1935
Abstract
Psoriatic arthritis is a significant medical condition with a high prevalence, a wide variety of non-specific symptoms, and a high degree of overlap with other spondylarthritis disorders, particularly ankylosing spondylitis. Hence, knowledge of the magnetic resonance imaging (MRI) manifestations and a multidisciplinary strategy [...] Read more.
Psoriatic arthritis is a significant medical condition with a high prevalence, a wide variety of non-specific symptoms, and a high degree of overlap with other spondylarthritis disorders, particularly ankylosing spondylitis. Hence, knowledge of the magnetic resonance imaging (MRI) manifestations and a multidisciplinary strategy are required for the better management of these patients. We searched publications from the last 10 years and focused on the most relevant ones which discussed the classification criteria, the MRI characteristics of axial psoriatic arthritis, the importance of MRI for follow up, and the reliability of skin and synovial biopsy. Axial spondylarthritis can be diagnosed and followed up on using the well-established MRI technique and, additionally, a biopsy. The analysis and concordance between them can provide new directions for future studies. Full article
Show Figures

Figure 1

19 pages, 4652 KiB  
Review
Challenging Patterns of Atypical Dermatofibromas and Promising Diagnostic Tools for Differential Diagnosis of Malignant Lesions
by Olguța Anca Orzan, Alexandra Maria Dorobanțu, Cristian Dorin Gurău, Sibel Ali, Mara Mădălina Mihai, Liliana Gabriela Popa, Călin Giurcăneanu, Irina Tudose and Beatrice Bălăceanu
Diagnostics 2023, 13(4), 671; https://doi.org/10.3390/diagnostics13040671 - 10 Feb 2023
Cited by 1 | Viewed by 3330
Abstract
Dermatofibroma (DF) or fibrous histiocytoma is one of the most frequent benign cutaneous soft-tissue lesions, characterized by a post-inflammatory tissue reaction associated with fibrosis of the dermis. Clinically DFs have a polymorphous clinical aspect from the solitary, firm, single nodules to multiple papules [...] Read more.
Dermatofibroma (DF) or fibrous histiocytoma is one of the most frequent benign cutaneous soft-tissue lesions, characterized by a post-inflammatory tissue reaction associated with fibrosis of the dermis. Clinically DFs have a polymorphous clinical aspect from the solitary, firm, single nodules to multiple papules with a relatively smooth surface. However, multiple atypical clinicopathological variants of DFs have been reported and, therefore, clinical recognition may become challenging, leading to a more burdensome identification and sometimes to misdiagnosis. Dermoscopy is considered an important tool in DFs diagnosis, as it improves diagnostic accuracy for clinically amelanotic nodules. Although typical dermoscopic patterns are most frequently seen in clinical practice, there have also been some atypical variants described, mimicking some underlying recurrent and sometimes harmful skin afflictions. Usually, no treatment is required, although an appropriate work-up may be necessary in specific cases, such as in the presence of atypical variants or a history of recent changes. This narrative review’s aim is to summarize current evidence regarding clinical presentation, positive and differential diagnosis of atypical dermatofibromas and also to raise awareness about the importance of specific characteristics of atypical variants to better differentiate them from malignant conditions. Full article
Show Figures

Figure 1

13 pages, 1110 KiB  
Review
Skin Dialogues in Atopic Dermatitis
by Elena Porumb-Andrese, Claudia Florida Costea, Andrei Cucu, Gabriela Rusu-Zota, Daciana Elena Braisteanu, Vlad Porumb, Mihaela Monica Scutariu, Alexandra Maria Dorobanțu and Ramona Gabriela Ursu
Diagnostics 2022, 12(8), 1889; https://doi.org/10.3390/diagnostics12081889 - 04 Aug 2022
Cited by 1 | Viewed by 2398
Abstract
Atopic dermatitis (AD) is a chronic skin disorder associated with significant quality-of-life impairment and increased risk for allergic and non-allergic comorbidities. The aim of this review is to elucidate the connection between AD and most common comorbidities, as this requires a holistic and [...] Read more.
Atopic dermatitis (AD) is a chronic skin disorder associated with significant quality-of-life impairment and increased risk for allergic and non-allergic comorbidities. The aim of this review is to elucidate the connection between AD and most common comorbidities, as this requires a holistic and multidisciplinary approach. Advances in understanding these associations could lead to the development of highly effective and targeted treatments. Full article
Show Figures

Figure 1

Other

Jump to: Research, Review

11 pages, 2052 KiB  
Case Report
The Benefits and Challenges of the Multimodal Treatment in Advanced/Metastatic Malignant Melanoma
by Alexandru-Rares Stoian, Gabriela Rahnea-Nita, Anda-Natalia Ciuhu, Laurentia Gales, Rodica-Maricela Anghel, Laura-Florentina Rebegea, Roxana-Andreea Rahnea-Nita, Liliana-Florina Andronache, Ioana Soare and Gabriela Stoleriu
Diagnostics 2023, 13(9), 1635; https://doi.org/10.3390/diagnostics13091635 - 05 May 2023
Cited by 1 | Viewed by 1362
Abstract
Currently, the treatment of malignant melanoma offers the longest and the most studied experience of innovative treatments in malignant pathology. The algorithm of the therapeutic decision in advanced or metastatic melanoma must comprise: the timing of the therapeutic initiation, the sequencing of the [...] Read more.
Currently, the treatment of malignant melanoma offers the longest and the most studied experience of innovative treatments in malignant pathology. The algorithm of the therapeutic decision in advanced or metastatic melanoma must comprise: the timing of the therapeutic initiation, the sequencing of the specific oncological treatment (radiotherapy and chemotherapy still being therapeutic alternatives in selected cases), the diagnosis and the management of adverse reactions. We present the case of a patient diagnosed with metastatic malignant melanoma in November 2019, who progressed successively under new systemic treatment throughout the 3 years of treatment and experienced skin reactions of various degrees of severity. The comprehensive response to secondary hilar pulmonary lymphatic determinations under subsequent chemotherapy was specific to the presented case. The occurrence of vitiligo secondary to immunotherapy is a favorable prognostic factor, but the occurrence of secondary cerebral determinations is an extremely severe prognostic factor in malignant melanoma and a challenge in making the therapeutic decision. Previous treatment with immune checkpoint inhibitors may trigger a favorable response to systemic chemotherapy. The early and accurate diagnosis of the adverse events of the new therapies requires a multidisciplinary approach, because it can radically change the therapeutic decision. Full article
Show Figures

Figure 1

12 pages, 2472 KiB  
Case Report
Cutaneous Melanoma and Glioblastoma Multiforme Association—Case Presentation and Literature Review
by Olguța Anca Orzan, Călin Giurcăneanu, Bogdan Dima, Monica Beatrice Dima, Ana Ion, Beatrice Bălăceanu, Cornelia Nițipir, Irina Tudose, Cătălina Andreea Nicolae and Alexandra Maria Dorobanțu
Diagnostics 2023, 13(6), 1046; https://doi.org/10.3390/diagnostics13061046 - 09 Mar 2023
Viewed by 1572
Abstract
The occurrence of both melanoma and glioma was first suggested by the observation of a familial association between these conditions, which was later confirmed by the description of the melanoma–astrocytoma syndrome, an extremely rare, inherited affliction in which people have an increased risk [...] Read more.
The occurrence of both melanoma and glioma was first suggested by the observation of a familial association between these conditions, which was later confirmed by the description of the melanoma–astrocytoma syndrome, an extremely rare, inherited affliction in which people have an increased risk of developing melanoma and nervous system tumors. Taking into consideration the common embryologic precursor, the neuroectoderm, it was hypothesized that this syndrome is associated with a genetic disorder. While some families with germline CDKN2A mutations are prone to develop just melanomas, others develop both melanomas and astrocytomas or even other nervous-system neoplasms. Herein, we report the case of a 63-year-old male patient with no personal or family history of malignancy who had primary melanoma followed by glioblastoma. Our case report suggests that the occurrence of both melanoma and glioblastoma is most likely not coincidental but instead linked to genetic mutations of common embryologic precursors or signaling pathways. Full article
Show Figures

Figure 1

13 pages, 6480 KiB  
Case Report
Clinical Remission in a 72-Year-Old Patient with a Massive Primary Cutaneous Peripheral T-Cell Lymphoma-NOS of the Eyelid, Following Combination Chemotherapy with Etoposide Plus COP
by Sabina Iluta, Dragos-Alexandru Termure, Bobe Petrushev, Bogdan Fetica, Mindra-Eugenia Badea, Madalina Moldovan-Lazar, Manuela Lenghel, Csaba Csutak, Andrei Roman, Sergiu Pasca, Alina-Andreea Zimta, Ciprian Jitaru, Ciprian Tomuleasa and Rares-Calin Roman
Diagnostics 2020, 10(9), 629; https://doi.org/10.3390/diagnostics10090629 - 24 Aug 2020
Cited by 1 | Viewed by 2920
Abstract
Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS) is the rarest subtype of primary cutaneous lymphoma, accounting for approximately 2% of cutaneous lymphomas. The rarity of primary cutaneous PTCL-NOS means that there is a paucity of data regarding clinical and histopathological features and its [...] Read more.
Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS) is the rarest subtype of primary cutaneous lymphoma, accounting for approximately 2% of cutaneous lymphomas. The rarity of primary cutaneous PTCL-NOS means that there is a paucity of data regarding clinical and histopathological features and its clinical course. This malignancy is an aggressive and life-threatening hematological malignancy that often presents mimicking other less severe plaque-like skin conditions. Due to the nonspecific nature of these lesions, CD4-positive cutaneous T-cell lymphoma (CTCL) is often misdiagnosed as either mycosis fungoides or Sezary syndrome. We describe a patient who presented with a large tumoral mass in the right frontal area, with involvement of the right upper eyelid and the ocular globe, causing loss of vision greatly impacting the quality of life. Biopsy revealed primary cutaneous PTCL-NOS, treated successfully with cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) plus etoposide combination chemotherapy. As elderly patients are indicated to receive attenuated doses of chemotherapy, CHOP-based regimens represent viable options. Full article
Show Figures

Figure 1

16 pages, 6084 KiB  
Case Report
Somatostatinoma and Neurofibromatosis Type 1-A Case Report and Review of the Literature
by Sorina Martin, Simona Fica, Ovidiu Parfeni, Liliana Popa, Teodora Manuc, Oana Rizea, Ioana Lupescu, Mirela Gherghe, Gabriel Becheanu and Adina Croitoru
Diagnostics 2020, 10(9), 620; https://doi.org/10.3390/diagnostics10090620 - 21 Aug 2020
Cited by 8 | Viewed by 4978
Abstract
Somatostatinomas are rare neuroendocrine tumors (NET) that arise in the gastrointestinal (GI) tract. Because of their insidious growth, they are usually asymptomatic until late stages, presenting as malignant disease. We report the case of a 50-year-old woman who presented with epigastric abdominal pain, [...] Read more.
Somatostatinomas are rare neuroendocrine tumors (NET) that arise in the gastrointestinal (GI) tract. Because of their insidious growth, they are usually asymptomatic until late stages, presenting as malignant disease. We report the case of a 50-year-old woman who presented with epigastric abdominal pain, diarrhea and significant weight loss in the last two years. On clinical examination the patient met the criteria for neurofibromatosis type 1 (NF1). Abdominal CT and MRI revealed an infiltrative duodenal mass, with pancreatic invasion, locoregional enlarged lymph nodes and disseminated hepatic nodules. Microscopy and immunohistochemistry uncovered a neuroendocrine tumor, staining positive for chromogranin A (CgA), synaptophysin and somatostatin, with a Ki67 = 1%. Somatostatin receptors (SSTRs) type 2 were negative and SSTRs type 5 were positive in less than 50% of tumoral cells. Our patient was classified as a T3N1M1 stage IV metastatic duodenal grade 1 somatostatinoma and treatment with somatostatin analogues and chemotherapy with capecitabine and temozolomide was started, with so far abdominal imaging follow-up showing stable disease. When a patient is diagnosed with a rare NET, such as a somatostatinoma, it is of utmost importance to determine if it is a sporadic tumor or just a feature of a genetic disorder. Full article
Show Figures

Figure 1

Back to TopTop