• Journal of Genetic Medicine
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• v.15 no.2
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• pp.92-96
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• 2018

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.44 no.6
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• pp.293-297
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• 2018

Rhinosporidiosis is a chronic, granulomatous, mucocutaneous infection caused by Rhinosporidium seeberi. The infection is non-contagious and sporadic in humans. The site most commonly affected is the mucous membrane of the nose and nasopharynx, followed by the oropharynx, trachea, bronchi, ear, eye, and genitourinary tract. It can also spread to other areas through blood and lymph. Here, we report a case of rhinosporidiosis affecting the palate in a 60-year-old female patient.

• Archives of Reconstructive Microsurgery
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• v.7 no.1
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• pp.47-53
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• 1998

Despite of technical advances in surgery & other therapeutic modalities five-year survival rates in patients with carcinoma of hypopharynx have remained low. Many techniques have been used to create a structure capable of allowing the passage of food and fluids in an attempt to maintain the anatomy and physiology of the upper digestive system. The development of microsurgical techniques and the concept of mucocutaneous unit has brought about important changes in the reconstruction of cervical esophagus following tumor resection. The one-stage procedure using microvascular anastomosis of free jejunal graft provides physiologic reconstruction of cervical esophagus and has a low morbidity rate as well as a short recuperation time. With free jejunal graft, there is marked improvement in the quality of life and numerous advantages over the previous methods of reconstruction. Reconstruction of esophageal defect after resection of carcinomas of the hypopharynx, and cervical esophagus has traditionally been carried out with deltopectoral, or musculocutaneous skin-lined flaps. A second approach is to reconstruct the defect with the colon or stomach. A more ideal mettled is to repair these defects with mucosa-lined flaps. The authors experienced 35 cases of reconstruction of cervical esophagus after resection of carcinoma of the hypopharynx with free jejunal autograft and one case of secondary repair with radial forearm free flap after failure of initial free Jejunal autograft. Postoperative results were satisfactory in most patients and two patients expired in 8 days postoperatively because of carotid blow out by chronic inflammation.

• Tuberculosis and Respiratory Diseases
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• v.45 no.3
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• pp.649-653
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• 1998

Pulmonary arteriovenous fistula is a congenital vascular malformation in lung resulting from abnormal capillary development and the exact etiology is not well known but it may occur with or without hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia (HHT) or Rendu-osler-Weber disease is an autosomal dominant vascular disorder which associates epistaxis, mucocutaneous and visceral telangicetases, and recurrent hemorrhage with chronic anemia and visceral shuntings. Recently we experienced a case of the pulmonary arteriovenous fistula in a 23 year-old woman with a family history of this disease, which was confirmed by pulmonary angiography.

• Journal of Dental Rehabilitation and Applied Science
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• v.31 no.2
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• pp.134-142
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• 2015

Lichen planus is an immune-mediated mucocutaneous disease, affects more frequently middle-aged Caucasian women and makes signs and symptoms in the oral mucosa. Cutaneous lichen planus lesions cause itching but they are self-limiting, oral lichen planus lesions are usually chronic, recalcitrant to treatment and potentially premalignant in some cases. Although, oral lichen planus is non-plaque related disease, they possess particular problems because plaque control is complicated by pain and bleeding and might cause plaque-related disease. The resulting condition comprises accumulations of plaque, which again can influence the progress of oral lichen planus with burning sensation, spontaneous gingival bleeding. Thus, it should be noted that both medication and supportive periodontal treatment are essential for the remission of the lesions. This case report introduces topical corticosteroid therapy and supportive periodontal treatment including intensive oral hygiene procedures to obtain an improvement of subjective symptoms and objective changes and to prevent relapse the lesions.

• Journal of Oral Medicine and Pain
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• v.37 no.1
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• pp.9-17
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• 2012

Lichen planus is a chronic inflammatory mucocutaneous disease that affects multiple sites of the body. Often it involves the oral mucosa, but also involve other sites such as skin, genitals, scalp and nails. There is no clear cause of oral lichen planus (OLP), current data suggest that OLP is a T-cell mediated autoimmune disorder which may have an altered self-peptide triggering apoptosis of oral epithelial cells. Usually OLP appears in middle-aged women which tends to be chronic with periods of exacerbation and remission. There are many theories those causes the OLP such as psychological and environmental factors, genetic tendency, drugs and more. 60-70% of lichen planus is accompanied by oral lesions, and more than half of its cases are not able to defined by their skin. In this study, among all the possibility(possible) theories, we tried to evaluate the influence of emotional stress in exacerbating OLP. There were thirty patients with a clinical or histological diagnosis of OLP and other thirty subjects who did not show any signs of systemic disorders include OLP. They were evaluated by using modified Holmes and Rahe's Social Readjustment Rating Scale (SRRS). As a result, a significantly higher level of stress was found in the OLP patients than the control group. Therefore it could be concluded that psychological stressors play an important role in the exacerbating OLP.