No abstract available.
Cyclosporine* ; Humans ; Vitiligo*

No abstract available.
Histiocytosis*

No abstract available.
Neurofibromatoses* ; Peripheral Nerves*

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.
Cardiomyopathies ; Extremities ; Female* ; Gait ; Humans ; Male ; Mothers ; Multiplex Polymerase Chain Reaction ; Muscle Cramp ; Muscle Weakness ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne* ; Myalgia ; Parturition ; Phenotype

We report a case of pityriasis versicolor atrophicans in a 20-year-old woman who presented with chronic multiple brownish atrophic macules and patches on chest and back. The lesions had developed six years ago and the patient had used topical medication including steroid ointments for the last two years prior to visiting our clinic. KOH examination was positive, so skin biopsy was performed and the diagnosis of pityriasis versicolor atrophicans was made. Since our patient had applied topical steroids for some time, it was difficult to rule out steroid-induced atrophy in a common tinea versicolor. Also, differential diagnosis was performed with respect to other skin diseases manifesting with cutaneous atrophy including anetoderma.
Anetoderma ; Atrophy ; Biopsy ; Diagnosis, Differential ; Female ; Humans ; Ointments ; Pityriasis ; Skin ; Skin Diseases ; Steroids ; Thorax ; Tinea Versicolor ; Young Adult

Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Adult ; Base Sequence ; Creatine Kinase/blood ; Exons ; Female ; Frameshift Mutation ; Gene Deletion ; Genotype ; Glycogen Phosphorylase, Muscle Form/genetics ; Glycogen Storage Disease Type V/*diagnosis/genetics/pathology ; Humans ; Pedigree ; Sequence Analysis, DNA

Phakomatosis pigmentovascularis is a neural crest disorder that is found almost exclusively in Asians. Type II is a syndrome in which extensive nevus flammeus is associated with persistent aberrant mongolian spots. We report a case of phakomatosis pigmentovascularis associated with congenital glaucoma in neonate.
Asian Continental Ancestry Group ; Glaucoma* ; Humans ; Infant, Newborn ; Mongolian Spot ; Neural Crest ; Neurocutaneous Syndromes* ; Port-Wine Stain

Benign prostatic hyperplasia (BPH) is one of the most common diseases among elderly men. As the old-age population is increasing recently, it is to our interest to observe the growing BPH within them. In BPH, the dihydrotestosterone (DHT) acts as promotes prostate growth. It inhibits enzyme 5alpha-reductase that is involved in the conversion of testosterone to the DHT activity which reduces the excessive prostate growth. Through experiments, the effects of Phellius linteus water extract performed on the BPH rats were induced by testosterone treatments. For 12 weeks, Sprague-Dawley rats were treated with testosterone for the induction of BPH. Rats were divided into four experimental groups: the not treated group (N), the testosterone injection and D.W treatment group (TN), the testosterone injection and Phellinus linteus treatment group (TP) and testosterone injection and finasteride treatment group (TF). Prostate weight, volume and weight ratio in the TP group and the TF group were significantly lower than the TN group. Testosterone and DHT levels in the TN group were significantly higher than that of the N group. And the TP group was significantly decreased than that of the TN group. While prostates of control rats revealed severe acinar gland atrophy and stromal proliferation; the TP and TF groups showed trophic symptoms and were lined by flattened epithelial cells, thus, the stromal proliferation is relatively low as compared to the TN group. These suggest that Phellinus linteus water extracts may be an useful remedy for treating the benign prostatic hyperplasia.
Aged ; Animals ; Atrophy ; Dihydrotestosterone ; Epithelial Cells ; Finasteride ; Humans ; Male ; Prostate ; Prostatic Hyperplasia ; Rats ; Rats, Sprague-Dawley ; Testosterone ; Water

No abstract available.
Exanthema* ; Humans ; Infant* ; Leukemia* ; Leukemia, Myeloid, Acute

No abstract available.
Animals ; Horns* ; Keratoacanthoma*