Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-old boy who presented with both hyperkalemic periodic paralysis and paramyotonia congenita. A molecular analysis of the SCN4A gene revealed a heterozygous T>C transition at nucleotide 2078, leading to an Ile693Thr mutation. This mutation was absent in the patient’s parents supporting a de novo Ile693Thr mutation in our patient.

BACKGROUND: Ota's nevus is not an uncommon pigmenta y disorder in Asian people including Koreans. OBJECTIVE: The purpose of this study was to examine the clinical features of the patients and to determine the existince of any relevance between them. METHODS: We arrid out a retrospective study with cialreviews and phone interviews or direct examinatior. for clinical features of the lesions in acesible patients. RESULTS: The peak age of onset was at birth, pubertyed adolescence in decreasing order. The most frequen1,ly involved site was the eyelid, and the type I was the most common. Bluish black color was pie edorninant. The lesions which did not inili the eyelid or the lesions which developed after birtten were more likely to be light brown in cilc(p<0.05). CONCLUSION: The clrical features of Otas nevus were revwed and analyzed statistically.
Adolescent ; Age of Onset ; Asian Continental Ancestry Group ; Eyelids ; Humans ; Nevus of Ota* ; Parturition ; Retrospective Studies*

Livedo reticularis is a mottled bluish discoloration of the skin which occurs in a netlike pattern and is not a diagnosis in itself, but is a nonspecific reaction pattern. It may be classified as idiopathic and secondary livedo reticularis. Decompression sickness can occur during decompression after diving into deep sea water or during a rapiid ascent from sea level, and is one of the many causes of the secondary livedo reticularis. We report a case of livedo reticulris which developed in a patient with decompression sickness. A biopsy from the purpuric patch revealed an unusual histopathologic finding that resembles those of bullae and sweat gland necrosis in drug induced coma.
Biopsy ; Coma ; Decompression Sickness* ; Decompression* ; Diagnosis ; Diving ; Humans ; Livedo Reticularis* ; Necrosis ; Seawater ; Skin ; Sweat Glands

A 23-year-old woman with Down syndrome presented erythematous keratotic plaques with whitish scales on the elbows, forearm, knee and leg. Histopathological findings revealed acanthosis with broad and short rete ridges, alternating orthokeratosis and parakeratosis oriented in both vertical and horizontal directions, and dermal superficial perivascular lymphocytic infiltration, compatible with pityriasis rubra pilaris.
Down Syndrome* ; Elbow ; Female ; Forearm ; Humans ; Knee ; Leg ; Parakeratosis ; Pityriasis Rubra Pilaris* ; Pityriasis* ; Weights and Measures ; Young Adult

We report a case of a 40-year-old man with a traumatic epidermal cyst on the lateral malleolus. It was unusual that the cyst contained glass pieces as a foreign body, which did not induce foreign body reaction in both clinical and histopathological aspects. To our best knowledge, this is the first case of an epidermal cyst to manifest as a foreign body cyst containing glass pieces in cystic contents.
Adult ; Epidermal Cyst* ; Foreign Bodies ; Foreign-Body Reaction ; Glass* ; Humans

Neurilemmoma is rare benign tumor originating from the Schwann cell of the nerve sheath. Intrabronchial neurilemmoma are extremely rare and only few cases have been reported previously in Korea. Neurilemmoma at all ages but are most common in persons between the ages of 20 and 50 years. It affects the head, neck, flexor regions of the extremities. Neurilemmoma was confirmed histologically because of the presence of Verocay bodies, Antoni A or B tissue pattern and of S-100 protein. We report two cases of intrabronchial neurilemmoma with chronic coughing and nonspecific radiologic findings.
Cough ; Extremities ; Head ; Humans ; Korea ; Neck ; Neurilemmoma* ; S100 Proteins

No abstract available.
Temporomandibular Joint*

No abstract available.
Temporomandibular Joint*

Multiple dermatofibromas have been reported in patients with various autoimmune disorders such as systemic lupus erythematosus in receiving immunosuppressive therapy. We report a case of systemic lupus erythematosus in a 30-year-old woman who developed 23 dermatofibromas while she was treated with systemic corticosteroid. The mechanism for the development of multiple dermatofibromas in the setting of immune disturbance remains unclear. The altered immune system may play a role in the pathogenesis of this cutaneous condition.
Adult ; Female ; Histiocytoma, Benign Fibrous* ; Humans ; Immune System ; Lupus Erythematosus, Systemic*

We analyzed the mRNA expression patterns of major potassium channel genes to determine the mechanism of hypokalemia in familial hypokalemic periodic paralysis. We used quantitative RT-PCR to examine the mRNA levels of both inward (KCNJ2, KCNJ6, and KCNJ14) and delayed rectifi er (KCNQ1 and KCNA2) potassium channel genes in skeletal muscle cells from both normal and patient groups, prior to and after exposure to 4 mM and 50 mM potassium buffers. Quantitative RT-PCR analysis revealed no changes in the mRNA levels of these genes in normal and patient cells on exposure to 4 mM potassium buffer. However, after exposure to 50 mM potassium buffer, which was used to induce depolarization, normal cells showed a signifi cant decrease in KCNJ2, KCNJ6, and KCNJ14 expression, but no change in KCNQ1 and KCNA2 expression. In contrast, patient cells showed no change in KCNJ2 and KCNJ6 expression, but an increase in KCNJ14 expression. Furthermore, KCNQ1 and KCNA2 showed decreased expression. We found that the expression levels of both inward and delayed rectifi er potassium channel genes in patient cells differ from those in normal cells. Altered potassium channel gene expression in patient cells may suggest a possible mechanism for hypokalemia in familial hypokalemic periodic paralysis.