• The Journal of Pediatrics of Korean Medicine
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• v.15 no.2
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.11 no.2
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• pp.81-86
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• 1989

Tumors originated from peripheral nerve tissues are neurofibroma, neurilemoma, plexiform neurofibroma, malignant schwannoma, and granular cell tumor. Neurofibromas seem to occur in two forms : The first one is circumscribed solitary neurofibroma and the second group is neurofibromatosis or Von Recklinghausen's disease, which is a congenital and familial disease, presenting abnormalities of the skin, nerve system, bones and soft tissue. A solitary neurofibroma is a benign, relatively circumscribed, noncapsulated tumor which often presents in the skin and subcutaneous tissue as a soft sessile or pedunculated mass. It may occur anywhere in the head and neck, but the common site of the occurrence is the tongue, buccal mucosa, palate in frequency. Since solitary neurofibroma is a relatively radioresistant and its recurrence rate seem to be low, the treatment of choice is surgical excision. The author would like to present a case of unusually large solitary neurofibroma occured in the chin, which was successfully treated with surgical excision and reconstructed using deltopectoral flap and tongue flap.

• Archives of Plastic Surgery
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• v.35 no.2
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• pp.197-200
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• 2008

Purpose: A congenital lacrimal sac fistula is unusual and consists of a dimple opening below the medial canthal tendon that leads to the lacrimal sac. This anlage ducts occur when the lacrimal anlage cells proliferate and canalize rather than involute. And, the anomaly is usually not associated with any systemic abnormalities. Also congenital cleft of the earlobes is rarely seen among congenital ear anomalies. Therefore, we report rare case with symptomatic bilateral lacrimal fistula with the ear cleft. Methods: A 4-year-old boy was admitted with aggravated chronic maxillary sinusitis, recurrent chronic dacryocystitis, and epiphora. He had two minor anomalies including bilateral lacrimal fistula originated in lacrimal tear sac and unilateral transverse ear cleft. The patient had been operated with fistulectomy and perioperative antibiotics. A small vertical ellipse is made around the opening with sharp dissection. The tract is excised using the probe as the guide. Another probe is placed through the lower canaliculus to prevent the damage. A suture ligature of 6-0 Maxon is placed around the deepest point of the tract, which is then excised. Additional sutures are placed in the tissues to form a tight closure to prevent reestablishment of the fistula. The skin is closed with 6-0 Black Silk. Results: The patient recovered well without any complications such as infection, epiphora, and obstruction of lacrimal sac. Conclusion: Our case illustrates bilateral lacrimal anlage ducts in a patient with unilateral congenital ear cleft. We recommend careful evaluation of lacrimal system in these patients, especially bilateral case and other congenital anomalies. Finally, we recommend excision of the ducts when epiphora, infection, or chronic skin irritation occur.

• Korean Journal of Veterinary Research
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• v.46 no.2
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• pp.165-169
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• 2006

A 6-year-old female Jindo dog weighing 20 kg was presented to the Veterinary Medical Teaching Hospital of Seoul National University for the formation of crust and erosion of the nasal bridge and planum, and for alopecia of ear margin. Erythema, crusts, alopecia and erosions were present in the nasal planum and the bridge of the nose on physical examination. There were no abnormalities on CBC, serum chemistry, and basic dermatologic examination which included skin scraping, bacterial cultures, and fungal cultures. On cytology, the acantholytic cells were surrounded by non-degenerate neutrophils. Biopsy samples obtained from skin lesionswere diagnosedpemphigus erythematosus by histopathology and immunochemical staining. Therefore the dog was initially treated with oral prednisolone as an immunosuppressive dose for tour weeks, but clinical manifestations did not improve so far.

• Archives of Plastic Surgery
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• v.37 no.6
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• pp.827-830
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• 2010

Purpose: Congenital spinal dermal sinus tract is a rare lesion connecting skin to deeper structures including neural tissue. It results from the failure of the neuroectoderm to separate from the cutaneous ectoderm in the third to fifth week of gestation. The common locations are the lumbosacral and occipital regions. Sometimes it extends to spinal canal. In this paper we report a case of congenital spinal dermal sinus tract in the coccyx. Methods: A 21-month-old male child born after an uncomplicated full-term pregnancy was admitted to our institute with a midline dermal sinus and a cartilaginous protrusion in the coccygeal region. There were no signs of infection. Neurologic examination showed no functional deficit in both lower limbs. He was treated with complete excision of the tract and an underlying accessory cartilage. Results: The spinal dermal sinus tract was extended from the skin to the coccyx. The stalk was loosely attached to the accessory cartilage of coccyx. At that point, it was dissected from the accessory cartilage and resected. The accessory cartilage was also resected at the bone and cartilage junction. During the follow-up period of 6 months, the wound healed well without any complication nor recurrence. Conclusion: Congenital spinal dermal sinus tract is known as a form of spinal dysraphism. In order to prevent complications, timely surgical intervention including complete resection of sinus tract with correction of associated abnormalities is of utmost importance.

• Journal of Yeungnam Medical Science
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• v.38 no.2
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• pp.160-164
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• 2021

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

• Journal of Veterinary Clinics
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• v.40 no.2
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• pp.158-163
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• 2023

A 9-year-old spayed female Shih-Tzu was presented with a mass on the upper eyelid of the right eye (OD). The eyelid mass continued to enlarge along the eyelid margin and the eyelid skin. Throughout the follow-up examinations, the mass did not affect the palpebral conjunctiva OD. Until 9 months since the mass was first identified, the dog did not show any clinical signs related to the mass. However, after 11 months, the owner complained of the dog's discomfort on OD and decided on surgical excision of the mass. There were no abnormalities in the complete blood count and serum chemistry profiles. The pentagonal resection was performed to completely remove the mass in the eyelid. There were no suspicious findings of metastasis on whole-body computed tomography scan immediately before the surgery. On histopathology and immunohistochemistry for multiple myeloma oncogene-1, the eyelid mass was diagnosed as extramedullary plasmacytoma (EMP). Surgical margin of the mass was clearly cut. No recurrence was observed during the 5-month follow-up. EMPs on the eyelid have rarely been reported in dogs. Although EMP is a benign tumor, the mass showed invasive growth and grew toward the skin rather than the palpebral conjunctiva. No recurrence occurred when surgically removed with clean margins.

• Biomolecules & Therapeutics
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• v.24 no.5
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• pp.529-535
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• 2016

Atopic dermatitis (AD) results from gene and environment interactions that lead to a range of immunological abnormalities and breakdown of the skin barrier. Protease-activated receptor 2 (PAR2) belongs to a family of G-protein coupled receptors and is expressed in suprabasal layers of the epidermis. PAR2 is activated by both trypsin and a specific agonist peptide, SLIGKV-$NH_2$ and is involved in both epidermal permeability barrier homeostasis and epithelial inflammation. In this study, we investigated the effect of lobaric acid on inflammation, keratinocyte differentiation, and recovery of the skin barrier in hairless mice. Lobaric acid blocked trypsin-induced and SLIGKV-$NH_2$-induced PAR2 activation resulting in decreased mobilization of intracellular $Ca^{2+}$ in HaCaT keratinocytes. Lobaric acid reduced expression of interleukin-8 induced by SLIGKV-$NH_2$ and thymus and activation regulated chemokine (TARC) induced by tumor necrosis factor-a (TNF-${\alpha}$) and IFN-${\gamma}$ in HaCaT keratinocytes. Lobaric acid also blocked SLIGKV-$NH_2$-induced activation of ERK, which is a downstream signal of PAR2 in normal human keratinocytes (NHEKs). Treatment with SLIGKV-$NH_2$ downregulated expression of involucrin, a differentiation marker protein in HaCaT keratinocytes, and upregulated expression of involucrin, transglutamase1 and filaggrin in NHEKs. However, lobaric acid antagonized the effect of SLIGKV-$NH_2$ in HaCaT keratinocytes and NHEKs. Topical application of lobaric acid accelerated barrier recovery kinetics in a SKH-1 hairless mouse model. These results suggested that lobaric acid is a PAR2 antagonist and could be a possible therapeutic agent for atopic dermatitis.

• Journal of Preventive Medicine and Public Health
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• v.27 no.4 s.48
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• pp.711-734
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• 1994

Among chemical agents in herbicides, dioxin (2, 3, 7, 8-tetrachloro dibenzo-$\rho$-dioxin : TCDD), a chemical contaminant in herbicides sprayed during the Vietnam War has been known to be the major agent causing toxic effects. Approximately 320,000 korean soldiers participated the Vietnam War from 1964 to 1974. Although the potential hazards of the herbicides among Korean veterans exposed were implicated, the problem had not been a public issue until 1991 when Korean veterans were informed U.S. companies, the herbicides manufacturer payed fund, from which a trust fund for New Zealand and Australian Class members were established in 1985. After a series of appeals and demonstration by the Korean Veterans demanding medical care and compensation for their serious health damages, a bill of medical care and compensation for herbicides victims was promulgated in March 1993 and become effective from May 1993, This study was carried out with two major objectives : the first to understand the health problems caused from the herbicides by reviewing literatures published, and the second to examine the nature and extent of health impacts among Korean veterans exposed and to develop valid study methods for the major study by interviewing and reviewing records on a part of veterans (638 persons) registered and completed medical examination in Seoul Veterans Administration Hospital from June to October 1993. The results obtained are as followings: 1. The literature review of 107 papers revealed that 1) Dioxin is teratogenic, carcinogenic and affects almost all organs including nervous, endocrine, and reproductive systems in animal experiments. 2) The diseases showing evidence of causal association were Hodgkin's disease, non-Hodgkin's disease, lung cancer, lymphoma, soft tissue sarcoma, chloroacne and polyneuropathy when judged on the basis of consistency in study results and biological plausibility. 2. Interview and medical record review study on 638 veterans, though limited validity owing to lack of control group, crude estimates of dioxin exposure levels (no biomarkers measurable), and uncertainty of diagnosis, showed that: 1) Most of the study subject's were in their 40's of age and had been dispatched to Vietnam during the period from $1965{\sim}1970$ around one year. 2) Most frequently complained symptoms in medical examination were motor weakness (32%), sensory abnormalities in extremities (23%), skin diseases (22%), and pain in extremities (20%) whereas in Interview they were more frequent in order of skin problem (44%), motor weakness (38%), sensory abnormalities and pain in extremities(17% and 19% each). Kappa indices on the same category of complaints between two sources of information were variable and relatively low. 3) On medical examination, only a part of the 638 subjects had initial impression (442 pts) and final diagnosis (218 pts) suggesting decision making on diagnosis appeared to be difficult even with all available modern medical technologies: in initial impression disorders from peripheral and central neuropathy were predominant whereas in final diagnosis various types of skin disorder were most frequent 4) When dose-response relationship between several conditions (from questionnaire) and arbitrary exposure scores were examined by CMH linear trend test, spontaneous abortion, sexual problems and health problem of offsprings showed statistically significant linear trends. However, pregnancy, accident and suicidal attempts did not show any relationship in this study capacity. 5) Among complaints, psychosis and neurosis (anxiety, phobia) in interview study, and memory disorder and psychosis in medical record study revealed linear trend. 6) Skin disorder was the only condition showing linear trend in initial impression and none in final diagnosis on medical examination. Even though objective to select out dioxin-related disease or group of diseases from this study was not achieved the research experiences provided firm basis for developing various methodological approaches. 3. From this preliminary study we concluded that a larger scale major epidemiologic study on health impacts of herbicides among Korean veterans exposed is not only Indispensible but also well designed study with more valid exposure information and diagnosis may be able to establish causal relationship between certain groups of diseases and exposure to the herbicides among Korean veterans.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.6
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• pp.292-297
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.