Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked recessive disorder, characterized by movement disorder, cognitive deficits, and self-injurious behavior. However, because of the high incidence of calculi, patients may present for surgery of urinary tract, and have increased risk of difficult intubation, aspiration pneumonia, renal insufficiency or sudden death. We report the case of a 5-year-old boy with Lesch-Nyhan syndrome who underwent successive extracorporeal shockwave lithotripsy under general anesthesia.
Anesthesia, General ; Calculi ; Child ; Death, Sudden ; Humans ; Incidence ; Intubation ; Lesch-Nyhan Syndrome ; Lithotripsy ; Movement Disorders ; Pneumonia, Aspiration ; Preschool Child ; Purines ; Renal Insufficiency ; Self-Injurious Behavior ; Uric Acid ; Urinary Tract

No abstract available.
Bowen's Disease ; Foot

BACKGROUND: This study was undertaken to evaluate the effectiveness of the Bonfils intubation fibrescope for cases of difficult tracheal intubation. MATERIALS AND METHODS: For patients with an ASA physical status 1 or 2 betwen the ages of 20-90, direct laryngoscopy was performed and the layngoscopic view graded according to the Cormack and Lehane classification. Forty patients with Cormack and Lehane grade 3 or 4 were intubated using the Bonfils intubation fibrescope. During intubation, the success rates for tracheal intubation, overall time to intubation, number of attempts and adverse effects were recorded. The Thyromental and sternomental distances were recorded after the orotracheal intubation. RESULTS: The success rates were significantly higher in Cormack and Lehane grade 3 (96.9%) patients compared to grade 4 (50%) (P<0.01). The time to intubation was significantly faster in patients with grade 3 compared to grade 4 (20 (10-49[7-300]) sec vs. 180 (31-300[10-300]) sec, P=0.01). The number of cases with a SpO2<90% was significantly lower in patients with grade 3 (3.1%) compared to grade 4 (50%) (P<0.01). CONCLUSION: In patients with Cormack and Lehane grade 3, tracheal intubation using the Bonfils intubation fibrescope appears to be an effective technique for the management of a difficult intubation. However, the Bonfils intubation fibrescope can not always be used for the management of a difficult intubation in grade 4 patients; for these patients other effective instruments should be considered for difficult intubations.
Classification ; Humans ; Intubation* ; Laryngoscopy

Background: Lichen sclerosus et atrophicus is an uncommon, benign, chronic lymphocyte-mediated inflammatory dermatosis that occurs mainly in the genital area. It causes substantial discomfort and morbidity, mostly in adult women. Objective: To investigate the clinicopathological characteristics of patients with vulvar lichen sclerosus et atrophicus. Methods: We retrospectively reviewed the clinical and histopathological features of 25 patients diagnosed with vulvar lichen sclerosus et atrophicus, who visited the dermatologic department between January 2009 and June 2017. Results: The average age was 54.2 years, and the disease duration was mostly less than 1 year. The major clinical features were diffuse patch, followed by diffuse plaque and multiple macules. It often presented with diabetes mellitus, thyroid disease, and hypertension. Itching was the most common symptom, followed by pain and burning sensations. Histopathological findings were hyperkeratosis with follicular plugging; atrophy and loss of rete ridge elongation in the epidermis; liquefaction degeneration and keratinocyte necrosis in the dermo-epidermal junction;collagen fibers hyalinization; and infiltration of inflammatory cells in the dermis. Antihistamines and topical steroids were used in most cases for treatment. Conclusion Vulvar lichen sclerosus et atrophicus causes discomfort and diminishes the quality of life in older women. Early diagnosis and prompt treatment are vital in preventing disease progression and complications. This study will provide valuable data on vulvar lichen sclerosus et atrophicus to dermatologists.

Acantholytic acanthoma is a rare benign neoplasm of epidermal keratinocytes that clinically presents as a solitary, asymptomatic keratotic papule or nodule on the trunk. A 40-year-old female visited our hospital with a 20-year history of a single papule on her right thigh. On physical examination, the lesion measured 0.5×0.4 cm in size and appeared brown in color with central hyperkeratosis. Histopathological evaluation showed hyperkeratosis, acanthosis, papillomatosis, dyskeratosis, and acantholysis. Only six cases of acantholytic acanthoma have been reported in Korea. We report a rare case of acantholytic acanthoma that occurred in a 40-year-old female who presented with a keratotic papule on her right thigh.

Prurigo nodularis (PN) is a chronic cutaneous condition characterized by a papulonodular pruriginous eruption accompanied by pruritus. PN lesions are typically firm and itchy hyperkeratotic nodules and papules, which provoke a scratch response. PN may often represent an initial cutaneous manifestation of human immunodeficiency virus (HIV) infection. The association between PN and HIV is attributable to various etiopathogenetic mechanisms including cutaneous immunological abnormalities. Diagnosis of HIV infection in a patient with PN is challenging.We report a case of confirmed HIV infection in a patient with treatment-resistant PN, who was successfully treated using combination treatment that included HIV antiretroviral therapy and narrow-band ultraviolet-B radiation.

Sweet syndrome is characterized by fever, tender, erythematous skin lesions, neutrophilia, high levels of serum inflammatory markers, and diffuse mature neutrophil infiltration typically localized to the upper dermis. Various drugs have been shown to be associated with Sweet syndrome. Bortezomib, a proteasome inhibitor approved for the treatment of multiple myeloma, has been reported to be associated with erythema, pruritus, eczemas, and, rarely, erythema multiforme-like skin changes or vasculitis. We describe a case involving a 65-year-old male who received bortezomib for the treatment of multiple myeloma. Over three cycles, multiple nodular lesions recurred through periods of aggravation and relief from symptoms. On the basis of the signs, symptoms, and biopsy results, the patient was diagnosed as showing Sweet syndrome. Skin lesions that occur during treatment of underlying disease can affect the patients’ treatment compliance. This case report indicates that a bortezomib rechallenge is an option for patients who develop sweet syndrome

Primary cutaneous anaplastic large cell lymphoma is primary cutaneous lymphoma that is composed of large lymphoid cells with anaplastic and pleomorphic morphology and expresses the CD30 antigen. Generally, primary cutaneous anaplastic large cell lymphoma is represented by a single, erosive plaque located on the trunk or extremities, but rarely on the dorsum of the hand. A 36-year-old man visited our hospital with a plaque on the dorsum of his left hand for 2 months. The plaque was 6×5 cm in size and violet-colored, with erosion. Histopathological findings showed infiltration of large anaplastic cells in the dermis and subcutaneous fat tissue. Immunohistochemically, it showed positive results for CD3, CD4, and CD30 and negativity anaplastic lymphoma kinase. Imaging examination showed no additional lesions, and the diagnosis was confirmed as primary cutaneous anaplastic large cell lymphoma. The patient was treated with radiation therapy four times and the lesion completely disappeared.

Unlike classic pyoderma gangrenosum (PG), the bullous variant of PG is typically represented by a painful erythematous papule, plaque, and superficial bulla that progress into the ulceration with bullous margin. Generally, bullous PG is most commonly associated with myeloproliferative disorders, such as acute myeloid leukemia (AML). Bullous PG in AML patients rarely occurs, but once it does, it suggests a poor clinical prognosis. Although many cases of classic PG in AML patients have been reported, bullous PG is relatively rare. Therefore, we present a case of bullous PG that developed in a patient with AML and was successfully treated with high-dose systemic steroids.

Trichophyton tonsurans is an anthropophilic endothrix dermatophyte that has been the main causative organism of tinea capitis in the United States, Canada, Mexico, and other Latin American countries. In Korea, tinea capitis caused by T. tonsurans has been reported since 1995, but kerion celsi caused by T. tonsurans is rare. Kerion celsi is an inflammatory suppurative dermatophytosis of the scalp associated with hair loss. In this study, we report a case of kerion celsi occurring on the parietal scalp of a 6-year-old child diagnosed in a mycological study. T. tonsurans was identified and treated with oral itraconazole and topical epiconazole.