Alexander disease(AD) is a rare fatal demyelinating disorder, caused by the mutation of glial fibrillary acidic protein(GFAP) gene. It is characterized by progressive demyelination of central nervous system, and the accumulation of Rosenthal fibers within astrocytes. It is divided into three group: infantile, juvenile, and adult. The infantile type is most common, has onset during the first 2 years of life. It shows macrocephaly and psychomotor delay, spastic paraparesis, seizure, and feeding problems, and usually dies within the first decade. The severity of the pathological changes depend on the age of onset. Radiological study revealed white matter loss, usually with frontal predominance. It is diagnosed by DNA analysis. We present case of a 10-month-old male patient with AD. He had focal seizures, demyelination in the frontal lobe in MRI, and the presence of a K86E mutaion in the GFAP gene, involving the replacement of adenosine with guanine.
Adenosine ; Adult ; Age of Onset ; Alexander Disease ; Astrocytes ; Central Nervous System ; Demyelinating Diseases ; DNA ; Frontal Lobe ; Guanine ; Humans ; Infant ; Macrocephaly ; Male ; Paraparesis, Spastic ; Seizures

Solid pseudopapillary pancreatic neoplasms are rare. The male-to-female ratio is 1:9, and metastasis occurs only in a few cases. A 39-year-old male with a solid pseudopapillary neoplasm (SPN) with lymph node metastasis underwent ultrasonography, CT, and MRI, which revealed a mass (8 cm) in the pancreatic head. Fluorodeoxyglucose (FDG)-PET showed a hypermetabolic lymph node in the root area of the superior mesenteric artery (SMA). The patient underwent pylorus-preserving pancreaticoduodenectomy, which confirmed a peripancreatic lymph node metastasis. The lymph node of the SMA root area remained because of the encasing of the superior mesenteric artery. After 14 months of follow-up (with no adjuvant therapy initiated), the residual metastatic lymph nodes showed no change and no recurrence. In conclusion, surgery of the primary tumor for patients with SPN is recommended, even in cases with metastatic lymph nodes remaining.

Cervical adenocarcinomas constitute for approximately 10%–20% of all invasive cervical cancers. Villoglandular adenocarcinomas (VGAs) are a rare subtype of cervical adenocarcinoma, representing approximately 5% of all cases of cervical adenocarcinomas. Herein, we report the case of a 49-year-old perimenopausal woman successfully treated for VGA. The patient presented to the hospital with a primary complaint of vaginal discharge persisting for 7 months with worsening symptoms. She had no underlying medical conditions or history of oral contraceptive use. A punch biopsy revealed an adenocarcinoma, and a human papillomavirus (HPV) test indicated positive for HPV-16. The patient underwent a radical hysterectomy with bilateral pelvic lymph node dissection, and a pathological diagnosis of VGA was established. After surgery, the patient underwent a 6-week course of concurrent chemoradiotherapy with cisplatin. During the 42 months of follow-up, no signs of disease recurrence or metastasis were observed. Because of the limitations of specimen acquisition, achieving a precise diagnosis through cervicovaginal cytology and punch biopsy is challenging. Instead, conization should be considered to prevent misdiagnosis.

Cervical pregnancy is one of the most rare and dangerous forms of ectopic pregnancy. It can complicate with massive bleeding and result in life-threatening condition. With the advance of USG technique, we can make an earlier diagnosis and a more conservative management to preserve the fertility potential. We report a case of cervical pregnancy which had high beta-hCG level & fetal heart tone and successfully been treated with dilatation and curettage (D & C) after using color Doppler and local methotrexate (MTX) injection.
Diagnosis ; Dilatation and Curettage* ; Dilatation* ; Female ; Fertility ; Fetal Heart ; Hemorrhage ; Methotrexate* ; Pregnancy* ; Pregnancy, Ectopic

BACKGROUND: Tinea incognito is the dermatophytoses of atypical clinical appearance that is induced by topical and systemic steroid treatment or topical calcineurin inhibitor. OBJECTIVE: The purpose of this study was to investigate the clinical and etiological aspects of tinea incognito. METHODS: In the 10-year-period 2007-2017, we reviewed fifty-one patients with tinea incognito with regards to the age, gender, duration, and associated diseases. The patients with tinea incognito were further evaluated concerning the clinical manifestations and culture of organisms. RESULTS: Age of the tinea incognito was most prevalent in the fifties (23.5%). The male-to-female ratio was 1:1.3. The most common type of infection was tinea corporis (52.9%), followed by tinea faciei (35.3%), tinea manus (5.9%), tinea barbae (3.5%), and tinea cruris (2.0%). The clinical features were to some extent diverse, ranging from eczema-like, seborrheic dermatitis-like, psoriasiform, folliculitis-like, rosacea-like, pyoderma-like, and purpura-like, and discoid lupus erythematosus-like. Trichophyton(T.) rubrum was the most common etiological agent (35.3%), followed by T. mentagrophytes (11.8%), Microsporum(M.) canis (7.8%), T. verrucosum (5.9%), T. erinacei, and M. gypseum (2.0%), respectively. CONCLUSION: Because of the increase in tinea incognito, there is a need for careful mycological examination in patients with tinea incognito.
Calcineurin ; Humans ; Tinea*

Purpose: To investigate the long-term clinical outcomes of transplanted amniotic membrane in patients who underwent permanent amniotic membrane transplantation (P-AMT) on cornea. Methods: From April 2014 to March 2021, medical records and digital photographs of 68 patients (72 eyes) who underwent P-AMT were analyzed retrospectively. The duration of complete re-epithelization of cornea and wearing therapeutic contact lense (T-lens) after surgery were investigated, the size of preserved amniotic membrane (AM) excluding the melted portion was analyzed using the Image J program every year up to 6 years after surgery, and it was compared by dividing into a single-layer group and a double-layer group. In addition, when the AM melts, the cause, time, and related factors of melting were analyzed. Results: The average duration to complete re-epithelialization after surgery was 12.2 ± 11.0 days, and T-lens were worn on average up to 8.7 ± 8.5 months after surgery. In total group, the average ratio of preserved AM annually up to 6 years after surgery was 94.9%, 94.3%, 97.8%, 96.4%, 95.8%, 91.6% respectively, and there was no significant difference between the single-layer group and the double-layer group. AM melting appeared in 38.9% (28 eyes) of the total group, and melting was first observed on average 16.4 ± 17.2 months after surgery. The formation and rupture of bullae was the most common cause of melting at 71.4% (20 eyes), and there were no statistically significant related factors involved in the formation of bullae. Conclusions In the case of P-AMT performed in various diseases of the cornea, the transplanted AM is partially melt but considered to be well preserved up to 6 years after surgery to form a stable ocular surface.

Carotid sinus hypersensitivity (CSH) is an exaggerated response to carotid sinus baroreceptor stimulation. Bradycardia, hypotension, and syncope are common manifestations of CSH. A 31-year-old female patient was scheduled for a robotically assisted endoscopic total thyroidectomy. No problems occurred during anesthetic induction. Sudden cardiac arrest occurred near dissection of the diseased thyroid. However, while atropine was administered, the patient soon recovered to normal sinus rhythm. Subsequent bradycardia or hypotension was not followed until the end of surgery.
Adult ; Atropine ; Bradycardia ; Carotid Sinus ; Death, Sudden, Cardiac ; Female ; Heart Arrest ; Humans ; Hypersensitivity ; Hypotension ; Pressoreceptors ; Syncope ; Thyroid Gland ; Thyroidectomy

Microspoum canis is a zoophilic dermatophyte that is often transmitted to humans from cats and dogs. It has become one of the most important causative agents in tinea capitis ane kerion celsi. Tinea capitis is uncommon in an adult. Moreover, tinea capitis caused by Microspoum canis is rare in an elderly. The location of the lesion and the clinical course of tinea capitis might have led physicians into misdiagnosis as the seborrheic dermatitis. Therefore, we report this case to emphasize the importance of KOH mount and fungal culture of the skin lesions mimicking seborrheic dermatitis. We report a case of tinea capitis caused by Microspoum canis in a 79-year-old woman. The lesions were manifested by fine scaly erythematous patches on the fronto-vertex scalp for 2 weeks. She was diagnosed as seborrheic dermatitis in local clinic and was treated with topical steroid. However, the lesion was not improved. She kept a cat as a pet. Culture from biopsy specimen on Sabouraud's dextrose agar showed typical cottony colonies of Microspoum canis. The nucleotide sequence of internal transcribed spacer for clinical isolate was identical to that of Arthroderma otae strain ATCC 23828 (GenBank accession number AY213657). She was treated with 200 mg of oral itraconazole daily for 12 weeks. The skin lesions improved after treatment, and recurrence has not been observed.

Majocchi's granuloma is a well recognized but uncommon infection of dermal and subcutaneous layers that is caused by fungal organism. It often presents as plaques and papules on areas where trauma is common. Majocchi's granuloma appears usually in immunocompromised patient but can also appear in immunocompetent patient. Tinea incognito appears in various forms of skin diseases, but it is rarely presented as Majocchi's granuloma. We report a case of trichophytic granuloma of the knee caused by Trichophyton(T.) rubrum in a 70-year-old male, who showed a pruritic, 7.0 × 2.0 cm sized, erythematous scaly patches with multiple papules on the right knee for 2 months. Fungal culture of the biopsy specimen grew out typical white cottony colonies of T. rubrum. The nucleotide sequence of internal transcribed spacer for clinical isolate was identical to that of T. rubrum strain ATCC 52013 (GenBank accession number KX092384.1). Histiologic examination showed chronic granulomatous inflammation and fungal elements in the dermis. After one month of itraconazole 200 mg/day and sertaconzole cream treatment, the lesion was completely cleared.

Onychomycosis is usually caused by dermatophytes, but some nondermatophytic molds and yeasts are also associated with invasion of nails. Scopulariopsis brevicaulis is a nondermatophytic mold found in soil as a saprophyte. We report two cases of onychomycosis caused by S. brevicaulis in a 48-year-old male and a 79-year-old female. The two patients presented with a typical distal and lateral subungual onychomycosis. Direct microscopic examination of the potassium hydroxide preparation revealed fungal elements. From toenail lesions of the patients, brown colonies with powdery surface, which are a characteristic of S. brevicaulis, were cultured on two Sabouraud's dextrose agar plates. Three cultures taken from nail plates within a 2-week interval yielded similar findings. Numerous branched conidiophores with chains of rough walled, lemon-shaped conidia were observed in slide culture by light microscopy and scanning electron microscopy. The nucleotide sequences of the internal transcribed spacer for the two clinical isolates were identical to that of S. brevicaulis strain WM 04.498. To date, a total of 13 cases of S. brevicaulis onychomycosis including the two present cases have been reported in Korea. Mean age of the patients was 46.1 years, with a higher prevalence in males (69.2%). Toenail involvement was observed in all cases including a case involving both fingernail and toenail. The most frequent clinical presentation was distal and lateral subungual onychomycosis in 12 cases, while one case was proximal subungual onychomycosis.
Agar ; Aged ; Arthrodermataceae ; Base Sequence ; Female ; Fungi ; Glucose ; Humans ; Hydroxides ; Korea ; Light ; Male ; Microscopy ; Microscopy, Electron, Scanning ; Middle Aged ; Nails ; Onychomycosis ; Potassium ; Potassium Compounds ; Prevalence ; Scopulariopsis ; Soil ; Spores, Fungal ; Sprains and Strains ; Yeasts