• Neonatal Medicine
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• v.18 no.2
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• pp.359-364
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• 2011

Purpose: Aplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin, and it can be associated with other congenital anomalies. This study was done to evaluate clinical course and outcome of ACC in neonates. Methods: Based on the medical records, we retrospectively reviewed 8 neonates diagnosed with ACC at Cheil General Hospital and Women's Health Care Center, Kwandong university College of Medicine from January 2004 to December 2010. We classified ACC by Frieden's classification and analyzed the patient's demographic data, clinical course and outcome. Results: Among 8 patients with ACC, 5 patients were classified to group 1; scalp ACC without anomalies and 3 patients to group 7; ACC localized to extremities without blistering. Defect size was from 0.3 cm to 1.5 cm, limited in the superficial skin or subcutaneous tissue without associated anomalies. Defects were healed under conservative treatment with mild scar formation within four months. Conclusion: ACC could be diagnosed easily through physical examination in neonates. All cases showed good clinical outcome without surgical treatment. However because of small numbers and small sized defects of cases, further study including lesions of large size is needed.

• Archives of Plastic Surgery
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• v.38 no.5
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• pp.616-620
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• 2011

Purpose: Mayer-Rokitansky-Kuster syndrome (MRK) is second common cause of primary amenorrhea. It is a syndrome of vaginal aplasia and Mullerian duct anomaly. Vaginal aplasia varies from agenesis of whole vagina to aplasia of upper 2/3. For reconstructing vagina, various methods are introduced. Gracilis myocutaneous flap was the first attempt in that the flap is used in vaginal reconstruction. Various flap-based vaginal reconstruction methods have been introduced. Modified Singapore flap (pedicled neurovascular pudendal thigh fasciocutaneous flap) is one of those methods that used posterior labial artery as pedicle, and pudendal nerve branch as sensory root. As its donor lies on inguinal crease that is easily hidden and there are benefits on sexual intercourse by early sensory recovery, authors think that modified Singapore flap is effective for young MRK syndrome patients. Methods: Eight patients underwent surgery between 2008 and 2010. The flap was designed on both groin area with external pudendal artery branch as a pedicle. All flaps were fixated in pelvic cavity with absorbable suture, and additional compression on neovaginal wall was supplied by polyvinyl alcohol sponge ($Merocel^{(R)}$). Results: All patients were successfully reconstructed without flap related complications such as congestion or partial flap loss. The average size of the flap (each side) was 69.34 $cm^2$. Polyvinyl alcohol sponge ($Merocel^{(R)}$) was inserted into neovagina for 5 days on every patient. One case of rectal laceration was occurred while making pelvic pocket by OBGY team. Other complications such as lumen narrowing, wound contracture or vaginal prolapsed were not reported during 8 months of follow up. Conclusion: Modified Singapore flap is a sensate fasciocutaneous flap that is thinner than other myocutaneous flap such as VRAM, and more durable over skin graft. Therefore this is a good choice for vaginal reconstruction in MRK syndrome. And known complications of Modified Singapore flap could be reduced with careful procedure and mild compression techniques.

• Journal of Chest Surgery
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• v.15 no.3
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• pp.290-294
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• 1982

Diaphragmatic eventration is a rare disease, congenital or acquired, high or elevated position of one leaf of the diaphragm muscle, as a result of paralysis, aplasia or atrophy of varying degree of the muscle fibers of the affected side but with no break in the continuity of the muscle. We experienced 3 cases of the diaphragmetic eventration at the department of thoracic surgery, C.A.F.G.H., from 1980 to 1982, which were treated successfully. Among three cases, one case combinded with hamartoma of the ipsilateral lung. Specific complications were not noticed after surgical repair of diaphramatic eventration with good result.

• Biomolecules & Therapeutics
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• v.18 no.2
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• pp.184-190
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• 2010

Clinical cases of pure red cell aplasia (PRCA) have been reported during the recombinant human erythropoietin (EPO) therapy for the anemia patients. PRCA is a rare hematological disorder leading to a severe anemia due to an almost complete stop of red blood cell production. Antibody (Ab)-associated PRCA is caused by the EPO-neutralizing Abs that eliminate the biological activity of EPO. In order to detect anti-EPO Abs in human sera, we performed conventional ELISA, directly coated bridging ELISA, and streptavidin coated bridging ELISA, and compared their sensitivity and specificity. Some false positive results were obtained in the conventional ELISA. One positive sample was detected successfully by streptavidin coated bridging ELISA, which was not appeared in the directly coated bridging ELISA. In conclusion, streptavidin coated bridging ELISA was substantially sensitive and specific format and one out of sixty-eight serum samples was proved to be anti-EPO positive.

• Physical Therapy Korea
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• v.6 no.1
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• pp.62-73
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• 1999

The purpose of this article was to provide basic knowledge and treatment principles of patient with lymphedema, which was usually not treated at all, or the treatment given didn't work efficiently. Lmphedema is defined as an abnormal accumulation of protein-rich fluid, edema, and chronic inflammation within an extremity. Lmphedema may be classified as either primary results from defects with aplasia, hypoplasia, and hyperplasia in the lymphatic system at birth or secondary is caused by known precipitating factors such as cancer, infection, inflammation, radiation, surgery, or trauma etc. There are essentially several conservative treatment methods which has been utilized successfully to treat lymphedema in Samsung Medical Center. We used following procedures: CPT (Complex Physical therapy) or CDP (Complex Decongesitive Physical therapy) such as skin care, MLD (Manual Lymph Drainage), compression with short-stretch bandage, exercise, elevation, elastic stocking, and pneumatic compression. Our experiences shows that conservative treatments can significantly reduce lymphedema and prevent different complications.

• Korean Journal of Head & Neck Oncology
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• v.33 no.2
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• pp.71-73
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• 2017

Dysplastic epiglottis is extremely rare congenital malformation, which usually occurs in association with other laryngeal anomalies. Hypoplasia is the most common type in epiglottic malfomations. Other abnormalities include rudimentary, aplasia and bifid etc. Mostly, they are found in infancy and early childhood, and diagnosis at adulthood is extremely rare. A 69-year-old man with chronic cough and globus sense visited our clinic. Laryngoscopic findings revealed a unique form of epiglottis. He had no history of laryngeal trauma, tumors, head and neck surgery, and radiation. There was no another anomaly in the laryngo-pharynx. Because of a mass-like lesion at the apex of epiglottis, we performed the laryngeal microsurgery. The pathology revealed as granulation tissue. We report a rare and unique case of dysplastic epiglottis in elderly patient with a brief literature review.

• Journal of Korean Neurosurgical Society
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• v.40 no.1
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• pp.44-46
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• 2006

Although congenital anomalies of the atlas have been well-documented, atlas anomalies of clefts and aplasia are rare. Anterior and posterior midline clefts of the atlas have been reported separately in some series. However, combined congenital anterior and posterior midline clefts of the atlas are reported rarely. Hence, we report a very rare case of combined congenital anterior and posterior midline clefts of the atlas associated with asymptomatic lateral atlantoaxial subluxation.

• Archives of Craniofacial Surgery
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• v.19 no.2
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• pp.131-134
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• 2018

Treacher Collins syndrome is a congenital disorder that is characterized with a wide range of cranio-facial deformities. Zygomatic hypoplasia or aplasia is one of the key features, and surgical reconstruction of the consequent depression on the zygomatic area is deemed necessary by many patients. Various surgical options are available-injectables, alloplastic materials, autologous grafting, and autogenous tissue transfer. It depends on each patient which technique to use. Here, we present a clinical case, in which bilateral free groin flaps were adopted in attempt to resolve the remnant aesthetic deformity associated with zygomatic depression, despite a series of previous surgical efforts, in a 25-year-old Treacher Collins syndrome male patient.

• Imaging Science in Dentistry
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• v.30 no.3
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• pp.229-234
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• 2000

Cleidocranial dysplasia (previously known as cleidocranial dysostosis) is a well-known, rare and hereditary skeletal disorder characterized by a variety of dental abnormalities and as its name implies, striking involvement of the cranial vaults and clavicles. A 17-year-old female who presented with short stature and prolonged retention of deciduous teeth, subsequent delay in eruption of permanent teeth is described. She could touch her shoulders together at the midline anteriorly. Diagnostic procedures showed hypoplasia of the maxillary and zygomatic bones, open fontanelles and sutures, and aplasia of the clavicles. The paranasal sinuses were absent or underdeveloped. Characteristically, she had near parallel-sided borders in the ascending ramus of the mandible and abnormal-shaped, the slender pointed coronoid process. The zygomatic arches had a downward bend and discontinuity at the zygomaticotemporal suture area. Radiographic and clinical investigations of her cranial and skeletal abnormalities revealed features of cleidocranial dysplasia.

• Journal of Genetic Medicine
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• v.1 no.1
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• pp.1-3
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• 1997

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis. The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.