scholarly journals The Surgical Management of Gardner Syndrome Manifestation in the Maxillofacial Region: A Case Report

2019 ◽  
Vol 20 (1) ◽  
pp. 89-91
Author(s):  
Slobodan Loncarevic ◽  
Denis Brajkovic ◽  
Milica Popovic ◽  
Milka Gardasevic ◽  
Miona Sekulic ◽  
...  
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Soft Tissue Tumors ◽  
Intestinal Polyposis ◽  
Maxillofacial Region ◽  
Gardner Syndrome ◽  
Intestinal Lesions ◽  
Dental Practitioners

Apstrakt Gardner syndrome is a rare autosomal-dominant genetic disorder, considered a variant of familial adenomatous polyposis. It is characterized by intestinal polyposis and various bone and soft-tissue tumors, including osteomas, epidermal and dermal cysts, lipomas and fibromas. Intestinal polyps have high potential to become malignant, and the screening of intestinal lesions is mandatory. Maxillofacial manifestations, such as jaw osteomas, odontomas, dental abnormalities and soft tissue tumors frequently precede the intestinal manifestations. Thus, maxillofacial surgeons and dental practitioners may have important role in early detection of Gardner syndrome. In this case report we present a 22 year old male patient who was reffered to maxillofacial surgeon due to osteoma of the mandible. After obtaining clinical and radiological examinations, as well as data from family history, Gardner syndrome was suspected, which was later confirmed after gastroenterological examination.

scholarly journals Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

2016 ◽  
Vol 33 (4) ◽  
pp. 218-221
Author(s):  
Moni Mohan Saha ◽  
Sukumar Saha ◽  
Ratan Lal Datta Banik ◽  
Md Mokter Hossain
Keyword(s):  
Case Report ◽  
Microscopic Examination ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Review Of Literature ◽  
Dominant Mutation ◽  
College Hospital ◽  
Medical College ◽  
Steatocystoma Multiplex ◽  
Keratin 17

A 25 years old male attended the skin & VD outpatient department of Khulna Medical College Hospital on 16th June, 2013 with complaints of multiple asymptomatic small rounded firm, cystic nodules that are adherent to the overlying skin of scortum. The microscopic examination of the cystic nodules showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient. Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17; have been reported. We are reporting here a case of steatocystoma multiplex of scortum in a 25 years old male along with review of literature.J Bangladesh Coll Phys Surg 2015; 33(4): 218-221

scholarly journals Diagnosis of Achondroplasia at Birth: A Case Report

2020 ◽  
Vol 58 (222) ◽  
Author(s):  
Suzit Bhusal ◽  
Uttara Gautam ◽  
Rajan Phuyal ◽  
Robin Choudhary ◽  
Sunil Raja Manandhar ◽  
...  
Keyword(s):  
Case Report ◽  
Vaginal Delivery ◽  
Autosomal Dominant ◽  
Fibroblast Growth Factor Receptor ◽  
Genetic Disorder ◽  
Radiological Finding ◽  
Growth Factor Receptor ◽  
Fibroblast Growth ◽  
Spontaneous Vaginal Delivery ◽  
Antenatal Ultrasonography

Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. A twenty-one years old multipara mother gave birth to a baby with achondroplasia via spontaneous vaginal delivery with episiotomy without any complication. Achondroplasia, in this case, was diagnosed on the basis of antenatal ultrasonography finding, clinical features and radiological finding of the baby. He was admitted in the special baby care unit for observation and discharged on the next day as no complications were noted.

Iontophoresis application in the treatment of  actinomycosis of the soft tissue in the maxillofacial  region – case report

2013 ◽  
Vol 66 (3) ◽  
pp. 411-417
Author(s):  
Jerzy Reymond ◽  
Maciej Podsiadło ◽  
Radosław Zaniewicz ◽  
Ewelina Koślak ◽  
Ewa Wrochna
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Maxillofacial Region

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (3) ◽  
pp. 473-475 ◽  
Author(s):  
Laura Maria Andrade Silveira ◽  
Andreia Nogueira Ramos ◽  
Isadora Rosado do Amaral ◽  
Vitoria Regina Pedreira de Almeida Rego
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Current Knowledge ◽  
Genetic Disorder ◽  
Mucous Membranes ◽  
Form Part

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

Sclerosing Rhabdomyosarcoma in Childhood: Case Report and Review of the Literature

2004 ◽  
Vol 7 (4) ◽  
pp. 391-396 ◽  
Author(s):  
Bhumita Vadgama ◽  
Neil James Sebire ◽  
Marian Malone ◽  
Alan Drummond Ramsay
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Smooth Muscle Actin ◽  
Polymerase Chain Reaction Analysis ◽  
Soft Tissue Tumors ◽  
World Health ◽  
Nuclear Staining ◽  
Pediatric Age Group ◽  
First Case ◽  
Sclerosing Rhabdomyosarcoma

Rhabdomyosarcoma is the most common soft tissue malignancy in children but is rare in adults. The latest World Health Organization classification of soft tissue tumors recognizes embryonal, alveolar, and pleomorphic rhabdomyosarcomas. More recently, a sclerosing variant of rhabdomyosarcoma has been recognized and reported in seven adult patients. We describe a pediatric case of sclerosing rhabdomyosarcoma presenting as a sacral mass in a 3-year-old girl. Morphologically, the tumor showed a prominent sclerosing hyaline matrix and demonstrated pseudovascular and microalveolar architectural foci. Focal positivity was seen with desmin, smooth muscle actin, and myogenin. MyoD1 showed uniform diffuse nuclear staining. Fusion transcripts were not demonstrated by reverse transcriptase-polymerase chain reaction analysis. The histology, immunohistochemistry, and molecular genetics matched those reported in the seven adult cases of sclerosing rhabdomyosarcoma. This is the first case report, to our knowledge, of this rare tumor arising in the pediatric age group, and we compare the features with those reported in adult sclerosing rhabdomyosarcoma.

Case report: Infant with a Fast-growing Soft Tissue Tumor on the Thumb, Revealing a PLAG1-positive Connatal Lipoblastoma

2020 ◽  
Vol 232 (06) ◽  
pp. 285-288
Author(s):  
Susanne Deeg ◽  
Lucas Wessel ◽  
Richard Martel ◽  
Stefan Porubsky ◽  
Daniel Svoboda
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Local Recurrence ◽  
Soft Tissue Tumor ◽  
Soft Tissue Tumors ◽  
Diagnostic Specificity ◽  
Total Removal ◽  
Subcutaneous Tumor ◽  
Microsurgical Technique ◽  
The Right

AbstractAt the age of 4 months, an infant was presented to us with a nodular subcutaneous tumor on the right thumb measuring 2cm, already seen prenatally via ultrasound. An MRI in sedation performed at the age of 4.5 months had no diagnostic specificity. By a biopsy at the age of 5 months malignancy could be excluded. Finally at the age of 16 months the tumor which had meanwhile grown to a monstrous size (5 cm of diameter) could be entirely removed by microsurgical technique maintaining the integrity of all intrinsic structures. The diagnosis of myxoid lipoblastoma was confirmed. According to literature, Lipoblastomas often present as connatal rapid growing soft tissue tumors and are benign. Total removal is essential for avoiding a local recurrence.

scholarly journals A Malignant Solitary Fibrous Tumor of the Parotid Gland: A Case Report

2021 ◽  
Author(s):  
Saeed Sohrabpour ◽  
Reza Erfanian ◽  
Ebrahim Karimi ◽  
Farrokh Heidari
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Parotid Gland ◽  
Solitary Fibrous Tumor ◽  
English Literature ◽  
Soft Tissue Tumors ◽  
Preoperative Embolization ◽  
Tender Mass ◽  
Fibrous Tumor

A Solitary Fibrous Tumor (SFT) is a soft tissue tumor that appears exceedingly rare in the parotid gland. The literature review suggested that approximately 12%-22% of these cases behave aggressively. Besides, only 4 cases of histological malignant parotid gland SFT are reported in the English literature. We presented a 65-year-old cigarette-smoker man with a fix and tender mass over the left parotid and submandibular areas. On physical examination, the marginal branch of the facial nerve was paralyzed. The left total parotidectomy and neck dissection levels 1 and 2 were performed with preoperative embolization procedure and adjuvant radiotherapy for the patient. The results of the follow-up examination were unremarkable after 11 months. In this case report, we aimed to increase awareness on SFTs, although rare, among clinicians and pathologists. Accordingly, it should be considered in the differential diagnosis of soft-tissue tumors in the major salivary glands for better management.

scholarly journals Solid Variant of Alveolar Rhabdomyosarcoma of Nasal Cavity

2020 ◽  
Vol 18 (1) ◽  
pp. 102-104
Author(s):  
A Bhattarai ◽  
BL Shrestha ◽  
A Dhakal
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Ct Scan ◽  
Nasal Cavity ◽  
Head And Neck ◽  
Neck Region ◽  
Soft Tissue Tumors ◽  
Alveolar Rhabdomyosarcoma ◽  
Head And Neck Region ◽  
Nasal Mass

Rhabdomyosarcoma comprises about half of the soft tissue tumors. Approximately 40% of the alveolar subtype occur in the head and neck region. Patients present with unilateral nasal mass with/without lymphadenopathy and with/without orbital manifestations. Diagnosis is aided radiologically by CT scan, MRI along with biopsy and is confirmed by immunohistochemistry. Treatment involves surgical resection, chemotherapy, radiotherapy or a combination of these. In spite of treatments, however, the outcome is poor. This is a case report of 14-year-old male who presented with unilateral nasal mass with proptosis of right eye who was eventually diagnosed as a case of alveolar rhabdomyosarcoma of solid variant.

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