Amiodarone-induced multiorgan toxicity with ocular findings on confocal microscopy.

Amiodarone is an antiarrhythmic medication that can adversely effect various organs including lungs, thyroid gland, liver, eyes, skin, and nerves. The risk of adverse effects increases with high doses and prolonged use. We report a 54-year-old female who presented with multiorgan toxicity after 8 months of low dose (200 mg/day) amiodarone treatment.

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

Background: Most patients with MHC class I (MHC-I) deficiency carry genetic defects in transporter associated with antigen processing 1 (TAP1) or TAP2. The clinical presentation can vary, and about half of the patients have severe skin disease. Previously, one report described β2-microglobulin (β2m) deficiency as another monogenetic cause of MHC-I deficiency, but no further immunologic evaluation was performed.

Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.

Purpose: To evaluate the ocular surface and topography findings of lamellar ichthyosis, and to investigate the correlation of these findings with mutations in TGM1, CYP4F22 and NIPAL4 genes.

Methods: Twelve patients with lamellar ichthyosis were evaluated. Routine ophthalmic examination including Schirmer 1, tear break-up time and ocular surface staining score, topography, and genetic evaluation for coding exons of TGM1, NIPAL4 and CYP4F22 genes were performed.

Treatment of ingrown toenail with proximolateral matrix partial excision and matrix phenolization.

Purpose: Ingrown toenail is one of the most common nail conditions. Although many surgical treatments are described for complicated cases, recurrence of pain and postoperative disability are common. We evaluated the long-term efficacy of proximolateral matrix partial excision followed by chemical matricectomy with phenol.

Subungual glomus tumor: surgical and histopathologic evaluation.

Glomus tumor is a rare and benign vascular tumor, arising from neuromyoarterial glomus bodies. It is generally localized on the hand and especially the nail bed and is usually solitary. Pain, tenderness, and temperature sensitivity are the classic triad of symptoms of a glomus tumor.

Stewart-Bluefarb syndrome: a case report with angiographic findings.

Acroangiodermatitis is a group of benign, angioproliferative cutaneous disease caused by chronic venous insufficiency, acquired or congenital arteriovenous shunts and limb paralysis. Stewart-Bluefarb syndrome is the type of acroangiodermatitis which is associated with a congenital arteriovenous malformation. This is a rare syndrome characterized by cutaneous kaposiform lesions that usually onset at the second decade.

Relapsing polychondritis in a child with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is associated with recurrent infections and autoimmunity. The most common autoimmune conditions are idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, chronic arthritis, and gastrointestinal inflammation. Relapsing polychondritis (RP) is an episodic and progressive systemic inflammatory disease, characterized by auricular chondritis, polyarthritis, nasal, and respiratory tract chondritis.

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.

Pachyonychia congenita (PC) type 2 is a rare inherited genetic disease characterized by hypertrophic nail dystrophy, palmoplantar hyperkeratosis and multiple pilosebaceous cysts. In some cases, natal teeth and hair abnormalities may be present. It is caused by mutations in keratin 17 or its expression partner keratin 6b.

Dermatofibroma on the palmar surface of the hand.

Case 1: A 58-year-old man presented with a solitary asymptomatic nodule on his thumb (Figure A). After trauma with a rusty nail approximately 20 years ago, he had developed a small papule, which had enlarged gradually for a few days initially before stabilizing. His personal and family medical histories were unremarkable.

Porokeratosis of Mibelli induced by topical corticosteroid.

Background: [corrected] Prorokeratosis of Mibelli is a chronic disorder characterised by slightly atrophic plaques surrounded by keratotic border.

Methods And Results: A 45-year-old with clobetazole propionate ointment for psoriasis over 15 years developed characteristic lesions of porokeratosis Mibelli on the elbows. Histopathological examination revealed the cornoid lamellae located on the edges of the specimen and psoriasiform acanthosis and a spongiotic pustule formation in the center of the specimen; thus, it was suggested as 'psoriasis encircled by porokeratosis'.

Endocrine and metabolic effects of rosiglitazone in non-obese women with polycystic ovary disease.

We hypothesized that the administration of rosiglitazone, an insulin-sensitizing agent of the thiazolidinedione class, would improve the ovulatory dysfunction, hirsutism, hyperandrogenemia, and hyperinsulinemia of polycystic ovary syndrome (PCOS) patients. Forty women with PCOS and impaired glucose tolerance test (IGT) were randomly assigned to the 8-month treatment with rosiglitazone at either 2 mg/day or 4 mg/day. We compared changes in ovulatory function, hirsutism, hormonal levels (total and free testosterone, estradiol, estrone, androstenedione, LH and FSH), and measures of glycemic parameters (fasting and post-challenge levels of glucose and insulin, HOMA-IR, hemoglobin A1c), between the study groups.

Porokeratosis of Mibelli: successful treatment with cryosurgery.

Porokeratosis of Mibelli, a disorder of keratinization, should be treated because of the possibility of development of malignant epithelial tumors on the porokeratotic lesions. Liquid nitrogen cryosurgery is considered to be particularly useful in the treatment of precancerous and benign skin lesions. We aimed to evaluate the efficiency of this method in the treatment of porokeratosis of Mibelli.

Solid facial edema of acne: failure of treatment with isotretinoin.

Solid facial edema of acne is a rare persistent skin condition which occurs as a late complication of acne vulgaris. It is difficult to treat and isotretinoin seems to be the most effective agent. Here we present a 25-year-old man with a facial edema which arose after the complete remission of acne.