Seckel syndrome is a rare, autosomal recessive disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. We report hereby the first two Korean cases of typical Seckel syndrome who had characteristic symptoms of intrauterine growth retardation, small head, large eyes, sharp facial features (beaked nose, dysplastic ears and narrow face) with underdeveloped chin, dwarfism, severe mental retardation, and other malformation. We report two cases of Seckel syndrome with a brief review of related literatures.
Chin ; Dwarfism ; Ear ; Fetal Growth Retardation ; Head ; Intellectual Disability ; Nose

BACKGROUND: Several reports have demonstrated that TGFalpha and EGF are mitogenic for keratinocytes. Whenther its expression on epithelial tumors is a marker of malignancy or signifies an important step in the development of neoplasia is poorly understood. EGF receptors are also present in normal epidermis and epithelial tumors but their physiological roles are not yet understood. OBJECTIVE: Our purpose was to examine the staining patterns of TGFalpha, EGF and EGF receptors on the npithelial tumors of the skin, and to investigate kinetics of expression of EGF receptors. METHODS: We performed immunoperoxidase staining(ABC technique) with monoclonal anti-TGFalpha antibody, polyclonal anti-EGF antibody and polyclonal anti-EGF receptor antibody on the formalinfixed, paraffin-embedded tissue specimens of benign, premalignant and malignant skin tumors. RESULTS: The density of the expression of TGFalpha and EGF was not correlated with the degree of the malignancy of the epithelial tumors and is neither constant in any kind of the tumors. However the infiltrative type of basal cell carcinoma(BCC) is stronger that its solid type on the expression of TGFalpha and EGF. All benign tumors demonstrated a diffuse pattern within tumor lobules. pression of TGFalpha and EGF. All benign tumors demonstrated a diffuse pattern within tumor lobules. Focal TGFalpha immunostaining was seen in three of 10 squamous cell carcinomas(SCC) and four of 10 BCCs. TGFalpha immunostaining was absent from the outermost one to two layers of tumor lobules of all keratoacanthomas. The specimens which increased the expression of TGFalpha and EGF tended to decrease the expression of EGF receptor. CONCLUSION: These data suggest that the density of immunohistochemical expression of TGFalpha and EGF may be not dependent on the differentiation of tumor cells, and the pattern of immunohistochemical expression of TGFalpha can differentiate SCC from benign tumors such as keratoacanthoma. FGF receptor may be occupied by both of TGFalpha and EGF. With the receptors being occupied, a down regulation of the receptors may occur which results in decreased EGF receptor expression.
Down-Regulation ; Epidermal Growth Factor* ; Epidermis ; Keratinocytes ; Keratoacanthoma ; Kinetics ; Receptor, Epidermal Growth Factor* ; Receptors, Fibroblast Growth Factor ; Skin* ; Transforming Growth Factor alpha*

Artichia with papular lesions is a rare congenit,al disease characteriezed by the association of alopecia and papular lesions. We report a case of atrichia with papular lesions in 12-year-old. Alopecia of the scalp and eye brows were present at birth. Nurnerous papular lesions are presentation the trunk, buttock and inguinal area. The histopathologic iinding of a papular lesion showed ker till-filled cyst, and eruptive vellous hair cyst. The patient showed reticulat.ed hyperpigmentation on the hands and feet in addition to the characteristic feature of atriclia with papular lesions.
Alopecia ; Buttocks ; Child ; Foot ; Hair ; Hand ; Humans ; Hyperpigmentation ; Parturition ; Scalp

Dermatoglyphics has been studied in various diseases including mongolism, ruhella syndrome, congenital heart disease, selected neurologic diseases and other disorders. However, reports of derrnatoglyphic studies in patients with leprosy have not been evcountered a lot. Although Ieprasy is an infectious disease due to the hfycobacterium leprae, the hereditary susceptibility of the host to the organism is proposed as an additional predisposing factor. Thia concept has been proposed to reconcile the low incidence of lisease among large numbers of contacts. Most reports delving into the role of heredity in leprosy have been related ta epidemiological studies. Prasad and Mohamad suggest, on the basis of data related to rnultiple patient families, that the acquisition of leprosy may be determined genetically on the assumption of incomplete dominance of genes; on the other hand, Spickett suggested that if there is any genetic effect, it is but a component af the familial effect. This study of dennatoglyphics in 77 male leprosy patients was undcataken to determine if there might be significance in the analysis of dermal patterns af the hands as related to the hereditary susceptibility of individuals to the disease comparing with those of 234 healthy Korean soldiers. Results are as follows: 1. In the analysis of the total fingertip ridges, there is significant difference (P<0.01) between the leprosy (137.66+4.7) and the control group (152.93+9.50). 2. A aignificant statistical difference between the leprosy and the control group (14.73+2.79) does not exist with respect to the pattern intensity, however that af the borderline group of leprosy (12.00+5.09)is decreased (P<0.025). 3. In the incidence of simian lines, the leprosy group (5.20%) shows lower incidence rate than that of control group (8.98%). 4. As for the a-b ridge count, it is decreased significantly (P<0.05) in the left hand of leprosy group (34.71+0.87) than that of the eontrol group (37.11+0.52), Also there is significant difference(P<0. 05) in the right hands of tuberculoid type of leprosy (34.64+1.38). 5. With respect to the propoetional distance (mm.) between the distal flexion crease of the wrist to the base of the middle finger with the distance (mm.) of the same point of the wrist to the axial triradius, a significant statistical difference between the leprosy and the control group does not exist, but significantly longer distance (mm.) exists in the tuberculoid type of leprosy (P<0.05). 6. No significant fingertip pattern differences are noted between the leprosy and the control group.
Causality ; Communicable Diseases ; Dermatoglyphics* ; Down Syndrome ; Epidemiologic Studies ; Fingers ; Hand ; Heart Defects, Congenital ; Heredity ; Humans ; Incidence ; Korea* ; Leprosy* ; Male ; Military Personnel ; Wrist

BACKGROUND: Peak expiratory flow (PEF) provides a simple, quantitative, and reproducible measure of the existence and severity of airflow obstructions. Peak flow meters are designed to monitor the condition asthma patients. There are many reports showing the normal predicted value of PEF in other countries. studies on healthy Korean adults have been performed in a relatively small sample number and a lower limit for the normal value was not reported. therefore, an attempt to provide normal predictive PEF value with a lower limit was made. METHOD: The PEF(Mini-Wright peak Flow Meter) measurements and spirometry were done in 233 men and 631 woman without history of respiratory disease. all subjects were non-smokers with no respiratory symptoms. the normal predictive value and its lower limit were developed by multiple regression analysis. The result was compared with regression equations in other reports. RESULTS: The regression equation for the normal PEF predictive value(L/min) is 25.117+4.587×Age(year)-0.064×Age2+2.931×Height(cm) in men in men(R2=0.25), and 146.942-0.011×Age2+1.795×Height(cm)+0.836×Weight (kg) in women(R2=0.21). The regression equation for the lower limit of this value (L/min) is 25.117+4.587×Age(year)-0.064×Age2+1.936×Height (cm) in men, and 146.942-0.011×Age2+1.232× Height (cm)+0.481×Weight (kg) in women. The residuals were normally distributed. The PEF in Korean males was similar to those reported in British and Japanese subjects. The PEF in Korean females was similar to that in British subjects, But higher than the PEF in Japanese subjects. The lower limit of normal value was 71% of normal predictive PEF value in men and 76% in women. CONCLUSION: The normal predictive PEF value and its lower limit was measured from 233 male and 631 female asymptomatic, lifelong non-smoking participants. The normal predictive value was different from those of other studies on Korean subjects. Therefore, further studies are required.
Adult ; Asian Continental Ancestry Group ; Asthma ; Female ; Humans ; Male ; Reference Values ; Spirometry

No abstract available.
Child* ; Humans ; Tuberculosis, Meningeal*

No abstract available.
Pyloric Stenosis, Hypertrophic*

No abstract available.
Choledochal Cyst* ; Humans ; Infant, Newborn*

No abstract available.
Bronchiolitis*

Dyschromatosis universalis hereditaria was reported in 1933 by Ichikawa and Hiraga in Japan. This disease is characterized by small pigmented and depigmented mottled macules on the trunk and extremities. We report two cases of dyschromatosis universalis. Case one is a 47-year-old man presented with hypoand hyperpigmented spots on the trunk and extrexities. At about 30 years of age, he started to show pigmentary changes on the back, which became progressively spread to the other parts of the trunk and extremities. Case two is a 27-year-old man with numerous mottled hypo-and hyperpigmented spots on the trunk and extremities. He started to show pigmentary changes on the back about 12 years ago. This pigmentary changes also became progressively spread to the other part of the trunk and extrimities. There were no family history of similar disease. On physical exminations, both patients had hrown rice-grain sized pigmented and depigmented macules without scales and atropy on the trunk and extremites. Fontana-Masson stains revealed decreased and increased melar in granules in the basal cell layers in the hypopigrnented and hyperpigmented lesions respectively.
Adult ; Coloring Agents ; Extremities ; Humans ; Japan ; Middle Aged ; Weights and Measures