Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dube syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered.

A Case of Superficial Giant Basal Cell Carcinoma with Satellite Lesions on Scalp

Giant basal cell carcinoma (BCC), defined as a lesion greater than 5 cm at its largest diameter, is a rare variant of BCC. In contrast to small BCC, giant BCC develops on skin that is not exposed to sunlight, including the back, shoulder, groin and thigh. Most of the histopathologic subtypes of giant BCC are micronodular, morpheaform and nodular, but the superficial subtype is rare. Giant superficial BCC arising on the scalp is extremely rare. We report the case of giant superficial BCC with four satellite lesions on the scalp in a 53-year-old male without predisposing factors.

Characterizing Cutaneous Elastic Fibers by Eosin Fluorescence Detected by Fluorescence Microscopy

BACKGROUND: Though elastic fibers are as important as collagen fibers in interpretation of the histopathologic findings, it is impossible to observe them on the hematoxylin & eosin (H&E) stained specimen. OBJECTIVE: Characterizing eosin fluorescence emitted by elastic fibers in H&E stained specimens. METHODS: Normal skin tissue sections were stained in 4 different ways (unstained, hematoxylin only, eosin only, H&E) and observed under a fluorescence microscope using a FITC filter set. Fluorescent findings of 30 H&E-stained specimens showing abnormal dermal findings were compared with bright field findings of Miller's elastic stained specimen. RESULTS: Strong eosin fluorescence was related to the differential binding property of eosin with elastic fibers. Hematoxylin stain quenched excessive eosin fluorescence from other tissue components and contributed to better contrast. Fluorescence microscopy of H&E-stained sections was found to be especially useful in observing mature elastic fibers in the reticular dermis. In 74% of the specimens, eosin fluorescence findings of elastic fibers in reticular dermis matched well with that of specimens with elastic fiber special stain. CONCLUSION: Analysis of skin elastic fibers by fluorescence microscopy is a useful and complementary method to reveal hidden elastic fibers in H&E-stained specimens.

A Case of Cutaneous Inflammatory Myofibroblastic Tumor

Pseudo-inflammatory tumors are also known as plasma cell granuloma, inflammatory pseudo-tumor and inflammatory myofibroblastic tumor, and these tumors are a group of highly variable proliferations of myofibroblastic cells that are associated with a prominent inflammatory infiltrate. This tumor is known to most commonly occur in the lungs, bladder and gastrointestinal system with only a few cases having been reported in the skin. A previously healthy 26-year-old man presented with a 6-year history of an intermittently pruritic lesion on his back. On the histologic examination, there were spindle cells in fascicles and a mixed inflammatory cellular infiltrate of plasma cells and lymphocytes. A diagnosis of inflammatory fibroblastic tumor was made and the nodule was surgically removed. We report here on an additional case of this rare cutaneous entity, and it is probably the first such report from Korea.

A Case of Axillar Syringomas

Syringoma is common benign neoplasm that is mostly seen around the eyes. However these tumors can occur in atypical locations such as the axilla. Although the axilla is possible site for syringoma, no previous case of syringoma limited to the axilla has been reported in Korea. We report here on a case of syringoma that appeared as grouped yellow-brownish papules limited to the axillae of a 24-year-old woman.

Poststeroid Panniculitis in an Adult / 대한피부과학회지

Poststeroid panniculitis is a very rare complication of corticosteroid therapy, and this is characterized by firm subcutaneous nodules on the cheek, neck or upper trunk within days or weeks following rapid systemic steroid tapering or cessation in childhood. It can be identified by the clinical features and a history of using steroid, and if necessary, with a biopsy. There have been just 2 reported cases in adulthood, one was an autopsy case of a 28-year woman and another was a 60-year-old man after massive administration of corticosteroids for congestive heart failure. Herein, we report a case of panniculitis accompanied by Cushing's syndrome in an adult after long-term misuse of systemic steroid for rosacea.

A Case of Fixed Drug Eruption Induced by Tegafur-Uracil(TEGASIL) / 대한피부과학회지

A mixture of tegafur and uracil (TEGASIL) is a common antineoplastic agent. Tegafur is a fluoropyrimidine structurally similar to 5-fluorouracil (5-FU); uracil slows the degradation of 5-FU by dihydropyrimidine dehydrogenase, which results in higher 5-FU concentrations in tumors. Mucocutaneous side effects induced by this agent are rare and include photosensitivity of lichenoid and eczematous types, acral erythema, hyperpigmentation and palmoplantar keratoderma. However, there have been no reports of fixed drug eruption associated with TEGASIL. We report here on a case of fixed drug eruption due to oral TEGASIL.

Annular Lupus Vulgaris Mimicking Tinea Cruris

Cutaneous tuberculosis is an infrequent form of extrapulmonary tuberculosis. It is often clinically and histopathologically confused with various cutaneous disorders. A 36-year-old man attended our clinic with slowly progressive, asymptomatic, annular skin lesions on both the thighs and buttocks for 10 years. He consulted with many physicians and was improperly treated with an oral antifungal agent for several months under the diagnosis of tinea cruris, but no resolution of his condition was observed. A diagnosis of lupus vulgaris was made based on the histopathologic examination and the polymerase chain reaction assay. Anti-tuberculosis therapy was administered and the lesions started to regress.

Heterotopic Gastric Mucosa in the Umbilicus

Heterotopia refers to the finding of normal tissue in foreign sites, entirely separate from the main organ. Heterotopic gastric mucosa has been observed throughout the alimentary tract, everywhere from the oral cavity to the rectum. However, occurrences in the umbilicus are an extremely rare and peculiar phenomena. We report the case of heterotopic gastric mucosa in the umbilicus.

A Case of Kikuchi's Disease Presenting with Unique Facial Involvement

Kikuchi's disease (KD), or histiocytic necrotizing lymphadenitis, is a rare, self-limited lymphadenopathy, typically in young women, that usually remits spontaneously and does not recur. KD is clinically characterized by cervical lymphadenopathy and a high fever. Extranodal involvement (skin, arthritis, meningitis) rarely occurs. When KD is involved in a skin lesion, it presents with various shapes, but rarely manifests with symmetrically distributed, erythematous, firm nodules only on the face. In this report, we describe a patient with KD and unique skin manifestations.

Two Cases of Psoriasis Following Growth Hormone Therapy / 대한피부과학회지

Growth hormone (GH) has been available for more than 4 decades for the treatment of GH deficiency. But mass production of recombinant DNA growth hormone has made GH therapy widely available for children with no GH deficiency. The use of GH therapy in children has resulted in adverse effects ranging from minor disturbances such as edema and injection site reactions to more significant, but rare events such as benign intracranial hypertension and slipped capital femoral epiphysis. Yet there has been no report in the dermatological field on skin adverse effects associated with GH therapy. We report here on 2 cases of psoriasis following GH therapy in children.

Splenectomy in Hereditary Spherocytosis in Childhood / 영남의대학술지

Among the erythrocyte membrane defects, hereditary spherocytosis is the most common. The erythrocyte membrane defect results from a deficiency of spectrin, the most important structural protein in red cell. Hereditary spherocytosis often presents with hemolytic anemia, jaundice, moderate splenomegaly. Diagnosis is established by the presence of spherocytes in the peripheral blood, reticulocytosis, an increased osmotic fragility, and a negative Coombs test. In children, splenectomy is usually performed after age 6 years but can be done at a younger age if warranted by the severity of the anemia and the need for frequent transfusions. In the period December 1987 to Agust 1993, 9 patients with hereditrary spherocytosis underwent splenectomy and the following results were obtained. 1. Nine patients were comprised of five males and four females. 2. Five patients(55.6%) had been admitted to our hospital during age 6-10 years. 3. Four of the nine patients had autosomal dominant inheritance with variable expression. The other five patients had no known inheritance. 4. The diagnosis of the spherocytosis was based on the increased osmotic fragility and increased autohemolysis of the erythrocytes, as well as on the appearance of spherocytes in the peripheral blood smear. 5. In all cases splenectomy was performed. Two patients had concomitant gall stones and choledocholithiasis, respectively. One patient with concomitant gall stones underwent simultaneous cholecystectomy and splenectomy. The other patients associated with choledocholithiasis underwent splenectomy, cholecystectomy, choledocholithotomy, and T-tube drainage. 6. Complete hematologic recovery was obtained by the splenectomy in all cases. 7. Postoperative complication was not occurred.

Congenital Ileal Atresia in Newborn / 영남의대학술지

Newborns with ileal atresia frequently present with abdominal distension, bilious vomiting, and failure to pass meconium. Diagnosis is usually established on plain x-ray of the abdomen by the findings of distended small bowel loops and air-fluid levels. In the period of October 1988 to February 1994, 8 patients with congenital ileal atresia were operated and the following results were obtained. 1. Eight patients were comprise of 4 males and 4 females, the ratio of male and female was 1 : 1. 2. Six patients(75%) had been admitted to our hospital during three days of life. 3. Congenital ileal atresia was in 8 cases : Type I in two(25%), Type II in two(25%), Type III a in three(37.5%), Type III b in one(12.5%). 4. There was one premature patient who was small for gestational age. 5. Overall, abdominal distension and bilious vomiting occurring in seven patients, were frequent presenting complaints. 6. Diagnosis was possible with clinical symptom and simple abdomen. 7. Operative treatment was undertaken as soon as the diagnosis was made. In seven cases a primary end-to-end anastomosis was performed after resection of dilated proximal loop. 8. A total of four associated congenital anomalies were found in one patient. 9. Postoperative complications occurred in three cases(37.5%).

Malignant Solid Tumors of Childhood / 영남의대학술지

No abstract available.