scholarly journals Malignant Melanoma in Child with Xeroderma Pigmentosum: A Rare Case

2020 ◽  
Vol 32 (1) ◽  
pp. 70
Author(s):  
Riezky Januar Pramitha ◽  
Sawitri Sawitri
Keyword(s):  
Malignant Melanoma ◽  
Cell Carcinoma ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorder ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
The Body ◽  
Malignant Neoplasms ◽  
Increased Risk

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by photosensitivity, cutaneous pigmentary changes, and malignant tumor development at an early age. The basic defect underlying the clinical manifestations is nucleotide excision repair defect, leading to defective repair of ultraviolet (UV)-induced DNA. XP patients who are younger than 20 years of age have more than 1000-fold increased risk of developing malignant neoplasms of the skin, which commonly include squamous cell carcinoma, basal cell carcinoma, fibrosarcoma, and malignant melanoma. Malignant melanoma arises in only about 3% of XP patients. Purpose: To report a case of malignant melanoma in a child with XP. Case: A 7-years-old girl presented with multiple hypopigmentation and hyperpigmentation macules since age of two, throughout the body, more on sun-exposed areas. The physical examination showed solitary tumor extensive ulcero- proliferative surface with areas of hemorrhage and blackish pigmentation on the vertex region. Histological examination revealed a feature of nodular malignant melanoma, and the condition became worse after she underwent two cycles of chemotherapy. Discussion: Despite the rare occurrence, the nodular type of malignant melanoma in XP patients is the most aggressive and responsible for the fatal condition. Conclusion: Early detection of XP is necessary due to its fast-growing nature and high metastatic possibility as well as mortality index.

scholarly journals Xeroderma pigmentosum with ocular involvement and squamous cell carcinoma: A case report

2019 ◽  
Author(s):  
Bernadya Yogatri Anjuwita Saputri ◽  
Iskandar Zulkarnain
Keyword(s):  
Squamous Cell Carcinoma ◽  
Ultraviolet Radiation ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Xeroderma Pigmentosum ◽  
Genetic Disorder ◽  
The Body ◽  
Malignant Neoplasms ◽  
Ocular Involvement ◽  
Skin Changes

Xeroderma Pigmentosum is a rare, autosomal recessive genetic disorder, characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity and freckle-like skin pigmentation. Skin changes are the most important symptoms and they manifest as erythema, painful blisters and ulceration. The last level of skin changes transformation are malignant neoplasms, particularly squamous cell carcinoma. There is a great involvement of many parts of the body, especially the head and neck. This paper describes a case of xeroderma pigmentosum with advanced cutaneous squamous cell carcinoma and ocular lesions in a nine-year-old boy. The extensive ultraviolet radiation-induced skin and eye damage are evidence of a failure to use sun-protection and a lack of appropriate medical care from childhood.

scholarly journals Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Esteban Uribe-Bojanini ◽  
Sara Hernandez-Quiceno ◽  
Alicia María Cock-Rada
Keyword(s):  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Panel Testing ◽  
First Case ◽  
Skin Malignancy ◽  
Increased Risk ◽  
History Of

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

scholarly journals Colonisation of basal cell carcinoma and actinic keratosis by malignant melanoma in situ in a patient with xeroderma pigmentosum variant

2012 ◽  
Vol 2 (2) ◽  
pp. 47 ◽  
Author(s):  
Louise J. Smith ◽  
Ehab A. Husain
Keyword(s):  
Malignant Melanoma ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Actinic Keratosis ◽  
Xeroderma Pigmentosum ◽  
Clinical Impression ◽  
Anatomical Site ◽  
History Of

Although malignant melanoma (MM) and both basal cell carcinoma (BCC) and actinic keratosis (AK) are sun-induced lesions, the coexistence of these entities at the same anatomical site (collision tumour) is exceedingly rare. We report the case of a 54-year-old woman with a known history of xeroderma pigmentosum variant (XPV) who presented with 2 separate skin lesions over the middle and upper right forearm, respectively. The clinical impression was that of BCCs or squamous cell lesions. On histological examination, both specimens showed features of melanoma <em>in situ </em>(MIS). In the first lesion, MIS merged with and colonised a superficial and focally invasive BCC. In the second lesion, MIS merged with an AK. No separate invasive nests of malignant melanoma were seen in either specimen. The atypical melanocytes were highlighted by Melan-A and HMB-45 immunostaining, whereas the epithelial cells in both the BCC and AK stained with the pancytokeratin MNF-116. The patient had a previous history of multiple MMs and non-melanomatous skin cancers and finally developed widespread metastatic malignant melanoma, which proved fatal. The rare and interesting phenomenon of collision tumours may pose diagnostic difficulties. To our knowledge, this is the first reported simultaneous presentation of cytologically malignant collision tumours in a patient with XPV.

scholarly journals Rare Cases in ENT

2018 ◽  
Vol 26 (2) ◽  
pp. 150-154
Author(s):  
Kalyan Pal ◽  
Dipanjan Chakraborty ◽  
Sohag Kundu ◽  
Subrata Mukhopadhyay
Keyword(s):  
Squamous Cell Carcinoma ◽  
Malignant Melanoma ◽  
Oral Cavity ◽  
Cell Carcinoma ◽  
Paranasal Sinuses ◽  
Small Proportion ◽  
Neck Region ◽  
Malignant Neoplasms ◽  
Head And Neck Region ◽  
Nose And Paranasal Sinuses

In our day to day ENT practice we commonly come across diseases involving the larynx, the oral cavity and the paranasal sinuses. These range from inflammatory disorders to benign and malignant neoplasms. Carcinomas involving the head and neck region are most commonly squamous cell carcinoma. However, a small proportion of cases present with other variants of carcinoma or infective pathology uncommon for the site. In this study we present three rare cases encountered in the out-patient department, namely, Primary Malignant Melanoma of the larynx, Neuroendocrine Tumor of the nose and paranasal sinuses and Rhinosporidiosis of cheek.

Coexistent Malignant Melanoma and Renal Cell Carcinoma

2009 ◽  
Vol 95 (4) ◽  
pp. 518-520 ◽  
Author(s):  
Balaji Venugopal ◽  
TR Jeffry Evans
Keyword(s):  
Renal Cell Carcinoma ◽  
Malignant Melanoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Renal Mass ◽  
Past History ◽  
Imaging Techniques ◽  
Case Series ◽  
Second Primary ◽  
Increased Risk

Patients with malignant melanoma are at an increased risk of developing subsequent primary melanomas and also nonmelanoma cutaneous cancers. Several studies have reported an association between malignant melanoma and breast cancer, bladder cancer, colorectal cancer, neuroectodermal tumours, non-Hodgkin's lymphoma, leukaemia and renal cell carcinoma. We report a case series of patients with a diagnosis of malignant melanoma who also developed a renal mass. In two of these cases, the renal mass became apparent on diagnostic imaging as part of the staging investigations at the time of initial diagnosis of the malignant melanoma. In both of these cases, biopsy of the renal mass confirmed the presence of a separate primary renal cell carcinoma which had presented concurrently with the malignant melanoma. A third case presented with bone metastases ten years after excision of a thin melanoma. Further imaging revealed pulmonary metastases and a renal mass, biopsy of which confirmed renal cell carcinoma. In contrast, a fourth patient underwent a right nephrectomy for a renal mass having presented with abdominal discomfort. The histology of this lesion was in keeping with metastatic melanoma, and the patient's past history included a diagnosis of ocular melanoma eight years prior to the development of metastatic disease in the right kidney. Survival rates for patients with many types of malignant disease are improving, and there have been significant advances in clinical imaging techniques. Consequently the development and detection of a second primary cancer, either presenting concurrently or on subsequent follow-up, is likely to be increasingly observed. The series of patients reported here highlights the importance of a diagnostic biopsy in patients with malignant melanoma who develop a renal mass in order to establish a diagnosis and to plan optimal treatment.

scholarly journals Xeroderma Pigmentosum in Children: Report of 4 Cases

Health Scope ◽  
2020 ◽  
Vol 9 (4) ◽  
Author(s):  
Ghasem Miri-Aliabad ◽  
Leila Asgarzadeh
Keyword(s):  
Xeroderma Pigmentosum ◽  
Genetic Disorder ◽  
Skin Aging ◽  
Incidence Rates ◽  
Skin Tumors ◽  
The Body ◽  
Malignant Skin Tumors ◽  
Malignant Skin ◽  
Defective Dna Repair ◽  
Autosomal Recessive Pattern

: Xeroderma pigmentosum (XP) is a rare genetic disorder inherited in an autosomal recessive pattern. Patients with XP are extremely sensitive to ultraviolet (UV) radiation that leads to defective DNA repair. People with XP often suffer from problems in the eyes, face, neck, and other areas of the body, frequently exposed to sunlight. It is characterized by photosensitivity, dry skin, pigmentary changes of the skin, premature skin aging, and a considerable increase in incidence rates of malignant skin tumors. There is no cure for XP. In this article, we have described four patients from two families, three of whom had malignant skin tumors.

scholarly journals Condition after Thrombosis of the Cavernous Sinus, Complicated by Osteomyelitis of the Upper Jaw after a Coronavirus Infection in a Patient With Type 2 Diabetes Mellitus

2021 ◽  
Vol 7 (3) ◽  
pp. 28-35
Author(s):  
F. A. Khaydarova ◽  
A. V. Alieva ◽  
T. T. Kamalov ◽  
V. A. Talenova
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Cavernous Sinus ◽  
Clinical Manifestations ◽  
The Body ◽  
Increased Risk ◽  
Coronavirus Infection ◽  
Upper Jaw

One of the most global health problems today is the SARS-CoV-2 coronavirus pandemic and its numerous complications. COVID-19 was first reported in China in the city of Wuhan in December 2019. It was found that coronavirus infection leads to microvascular and macrovascular complications throughout the body. Recent data indicate a strong link between severe clinical manifestations of COVID-19 and an increased risk of thromboembolism. It is associated with several risk factors such as systemic hyperinflammation caused by coronavirus infection, hypoxia, and comorbidities. The pathophysiological mechanisms underlying coagulopathy associated with COVID-19 include diffuse damage to endothelial cells, abnormal blood flow dynamics, and uncontrolled platelet activation. Studying the situation during the COVID-19 pandemic, we can notice that patients develop various complications during or after COVID-19. This article describes a clinical case of a patient with type 2 diabetes mellitus who has developed cavernous sinus thrombosis complicated by osteomyelitis of the upper jaw after COVID-19 infection.

scholarly journals Tuberous sclerosis with cardiac rhabdomyoma: a case report

2017 ◽  
Vol 4 (2) ◽  
pp. 666
Author(s):  
Sunita Arora ◽  
Harnoorjit Kaur Brar ◽  
Prabhjot Kaur Dhillon
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Female Child ◽  
The Body ◽  
Cardiac Rhabdomyoma ◽  
Cardiac Evaluation ◽  
Benign Tumours ◽  
High Index Of Suspicion

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

Brugada Syndrome – Report of Familial Occurrence Diagnosed in the Emergency Department

2020 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Mojtaba Fazel ◽  
Fatemeh Hamidi ◽  
Elham Afshari
Keyword(s):  
Emergency Department ◽  
Ventricular Fibrillation ◽  
Rare Disease ◽  
Male Patient ◽  
Brugada Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
St Segment ◽  
Increased Risk

AbstractIntroduction: Brugada syndrome represents the clinical manifestation of a rare disease with genetic etiology. The syndrome is characterized by ventricular dysrhythmias associated with syncope or sudden cardiac death in the lack of any structural cardiac disease. The diagnosis of Brugada syndrome is established if a type 1 electrocardiographic (ECG) pattern of ST-segment and QRS morphology is present, in association with certain clinical manifestations and/or familial history.Case presentation: A 31-year-old male patient, without any medical history, presented in the emergency department (ED) of a clinical center. His only complaints consisted in palpitations, chest discomfort, and emotional stress related to the recent death of his wife. Earlier on the same day, his wife, a 25-year-old female was brought via emergency medical services (EMS) to the ED after presenting ventricular fibrillation. The female patient presented a long term history of chest pain and one year prior to this episode she presented idiopathic ventricular fibrillation, for which she had undergone implantation of an automated cardioverter defibrillator. As the couple were cousins, the EMS specialist suspected the presence of a familial cardiac disorder. The electrocardiogram of the male patient revealed a coved-type ST-segment elevation of 4 mm in leads V1–V3 compatible with type 1 Brugada syndrome.Conclusion: In case of Brugada syndrome, a genetic disorder associated with increased risk of SCD, the patient's first-degree relatives should be investigated as well, in order to identify the presence of the syndrome and to prevent SCD. As the sole established effective therapeutic measure for patients diagnosed with Brugada syndrome, ICD implantation should be considered in order to decrease the risk of syncope and SCD. This case is particular because a rare disease with familial etiology was identified in both husband and wife, who were cousins.

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