Sjogren-Larsson syndrome is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase. It consists of ichthyosis, spastic di- or quardriplegia and mental retardation. We report a case of a 9-year-old boy who was suspected to have Sjogren-Larsson syndrome. He had congenital ichthyosis, spastic diplegia and mental retardation. In addition, there was macular degeneration on the fundus. His neurological symptoms were improved after selective posterior rhizotomy and rehabilitation therapy. However, the dermatological problem did not subside with conservative treatment.
Aldehyde Dehydrogenase ; Cerebral Palsy ; Child ; Humans ; Ichthyosis ; Intellectual Disability ; Macular Degeneration ; Male ; Muscle Spasticity ; Neurocutaneous Syndromes ; Rehabilitation ; Rhizotomy ; Sjogren-Larsson Syndrome*

Eccrine poroma is a benign skin appendage tumor originating from the intradermal part of the sweat duct. It is found commonly on the hairless surface of the feet, although eccrine poroma of the hands, head, trunk, and legs have been reported. Histopathologically, the tumor extends from the lower portion of the epidermis into the dermis as broad, anastomosing bands. The tumor cells are smaller than squamous cells, having a uniform cuboidal appearance and a round, deeply basophilic nucleus, connected by intercellular bridges. In eccrine poromas, narrow ducta1 lumina and occasional cystic spaces are found within the tumor bands, but a large cystic space is very unusual. We report a case of eccrine poroma with a large cystic space extending from epidermis into the reticular dermis.
Basophils ; Dermis ; Epidermis ; Foot ; Hand ; Head ; Leg ; Poroma* ; Skin ; Sweat

Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait spots and neurofibrobmas, or only neurofibroma, limited to one region of the body. Disease-associated systemic involvement is uncommon. Most patients with segmental neurofibromatosis do not have a family history of neurofibromatosis. In Korea, there have been 3 reported cases of segmental neurofibromatosis. None of them had caf6-au-fait spots, systemic involvement, or family history. This report describes a case of segmental neurofibromatosis in a 25-year-old woman who had Becker's nevus-like cafe-au-lait spots and this was linked to the presence of Fanconi's syndrome in a second degree relative of the patient.
Adult ; Cafe-au-Lait Spots ; Female ; Humans ; Korea ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1

BACKGROUND: Previous studies have demonstrated the pathogenetic role and expression of TGF-beta in psoriatic lesion. Transforming growth factor s are a family of growth factors with inhibitory effects on epithelial cell proliferation. Their effects are mediated by two interacting receptors, of which type I receptor mediates signal transduction after interaction with type II receptor carrying the TGF ligand. OBJECTIVE: The purpose of this study was to investigate the relationship between development of psoriasis and expression of TGF-beta receptors in psoriatic lesion. METHODS: We have studied the expression of TGF-beta type I and type II receptors in psoriatic lesions of 30 psoriatic patients who had not been treated for 1 month, 5 non-lesional psoriatic skin, and 3 normal human skin by immunohistochemical staining using polyclonal rabit antisera. RESULTS: 1. Immunohistochemical analysis revealed an intense immunoreactivity for TGF-beta type I and type II receptors in the basal and also suprabasal layer of normal epidermis and non-lesional psoriatic skin. 2. Almost all psoriatic lesions studied lacked detectable immunoreactivity of either receptor in the epidermis. CONCLUSION: We suggest the lack of TGF-beta - mediated growth inhibition by down regulation of TGF-beta receptor expression may play an important role in the pathogenesis of psoriasis.
Down-Regulation ; Epidermis* ; Epithelial Cells ; Humans ; Immune Sera ; Intercellular Signaling Peptides and Proteins ; Psoriasis ; Receptors, Transforming Growth Factor beta ; Signal Transduction ; Skin ; Transforming Growth Factor beta ; Transforming Growth Factors

A man with bilateral primitive persistent trigeminal artery combined with cerebral rete mirabile is reported. Direct both common carotid artery angiogram is described with a brief discussion of the embryogenesis of carotid-basilar anastomosis and cerebral rete mirabile. Associated findings of previously reported cases of persistent trigeminal artery and cerebral rete mirabile are briefly reviewed. Persistent of the bilateral trigeminal artery associated with hemorrhage from cerebral rete mirabile seems worthy of notation. The angiographic findings were as follows; 1) The characteristic angiographic findings are bilateral occlusion at the cavernous portion of internal carotid artery. 2) Retrograde filling of middle cerebral artery from the collateral anastomotic channel was showed. 3) Anterior and posterior cerebral arteries are filled from leptomeningeal anastomotic channel and cerebral rete anastomosis. Authors suggested that the persistent trigeminal artery is congenital origin and cerebral rete mirabile may suspect to the secondary change.
Arteries* ; Carotid Artery, Common ; Carotid Artery, Internal ; Embryonic Development ; Female ; Hemorrhage ; Middle Cerebral Artery ; Posterior Cerebral Artery ; Pregnancy

Myocardial bridging is defined as segmental engulfment of a major epicardial coronary artery by myocardial fibers, causing a systolic narrowing or milking effect of the coronary arterial segment. During systole, the intramuscular part of coronary artery is compressed by contraction of overbridging ventricular muscle, therefore blood flow distal to the lesion is impaired and angina pectoris or acute myocardial infarction may occur. We experienced a case of Non-Q myocardial infarction in a 42 years-old female patient with myocardial bridge at the proximal and middle part of left anterior descending coronary artery.
Adult ; Angina Pectoris ; Coronary Vessels ; Female ; Humans ; Milk ; Myocardial Bridging* ; Myocardial Infarction ; Systole

Abdominal pregnancy is very rare and potentially life-threatening variation of ectopic pregnancy. Early diagnosis is very difficult. In the last several decades prenatal care has improved and noninvasive procedures such as ultrasound scanning and fetal cardiotocography have led to us a better assessment of fetal and maternal disorders. In the last 30 years an increase of diagnosed ectopic pregnancies has been noted and attributed to the greater frequency of pelvic inflammatory disease. Although the incidence of ectopic pregnancy is rising, the incidence of abdominal pregnancy, which is primarily a sequel of a missed ruptured ectopic pregnancy, remains low. We presented a case of secondary abdominal pregnancy in 14 wks with its review of literature.
Cardiotocography ; Early Diagnosis ; Female ; Incidence ; Pelvic Inflammatory Disease ; Pregnancy ; Pregnancy, Abdominal* ; Pregnancy, Ectopic ; Prenatal Care ; Ultrasonography

The Job's syndrome is a relatively rare primary immunodeficiency disorder characterized by recurrent staphylococcal infection and abscess formation, defective neutrophil chemotaxis, and markedly elevated serum IgE level. Clinical features are atopiclike dermatitis, furunculosis, paronychia, pulmonary bacterial pneumonia etc. We reported a case of Job's syndrome in a 12-year-old girl who had recurrent pneumonia, scaly pruritic dermatitis, fissured tongue, and nail dystrophy with elevated serum IgE level.
Abscess ; Chemotaxis ; Child ; Dermatitis ; Female ; Furunculosis ; Humans ; Immunoglobulin E ; Job Syndrome* ; Neutrophils ; Paronychia ; Pneumonia ; Pneumonia, Bacterial ; Staphylococcal Infections ; Tongue, Fissured

Sarcoidosis is multisystem granulomatous disorder of unknown etiology presenting most freguently with bilateral hilar lymphadenopathy, pulmonary infiitration, and skin or eye lesion. Nervous system is involoved clinically in approximately 5% of cases. Cranial neuropathy is the most frequent problem, and a peripheral facial nerve palsy is the single most common abnormlality which is often bilateral. About 12 cases of sarcoidosis have been reported in Korea but there was no case of neurosarcoidosis. We report a case of neurosarcoidosis manifested by facial diplegia and with bilateral hilar enlargement verified by transbronchial lung biopsy. And her heart is suspected to be involved with sarcoidosis, too.
Biopsy ; Cranial Nerve Diseases ; Facial Nerve ; Heart ; Korea ; Lung ; Lymphatic Diseases ; Nervous System ; Paralysis ; Sarcoidosis ; Skin

Prurigo pigmentosa is a distinct type of inflammatory dermatosis characterized by recurrent pruritic erythematous papules that resolve, leaving a peculiar, reticulate hyperpigmentation. Although the cause of prurigo pigmentosa is unknown, exogenous factors, such as friction from clothing, have been suggested as possible triggers in some cases. In other cases, however, systemic conditions such as diabetes mellitus, pregnancy, fasting, and dieting were associated with prurigo pigmentosa, suggesting involvement of endogenous factors in the pathogenesis. There have been reported cases of prurigo pigmentosa associated with ketosis. Because ketosis is commonly observed in association with fasting, dieting, and insulin dependent diabetes melitus, it may be involved in the pathogenesis of prurigo pigmentosa. Here, we describe a patient with prurigo pigmentosa associated with diabetes mellitus and ketosis. In this case, the prurigo pigmentosa improved with the disappearance of the ketosis, but the blood sugar levels did not correlate with the improvement.
Blood Glucose ; Clothing ; Diabetes Mellitus ; Diet ; Fasting ; Friction ; Humans ; Hyperpigmentation ; Insulin ; Ketosis* ; Pregnancy ; Prurigo* ; Skin Diseases