An Unusual Case of Basal Cell Carcinoma with Lung and Endobronchial Metastasis.

Recently, some cases of basal cell carcinoma (BCC) with lung metastasis have been reported, but those involving simultaneous tracheal, bronchial, and lung metastases have been rarely reported. Here, we have reported a very unusual case of BCC with metastasis, presenting with lung nodules and endobronchial lesions after two metastasectomies. Since BCC is a slow-growing cancer that rarely metastasizes to distant organs, tumor stage workup including radiological imaging has not been routinely performed in clinical practice. This case showed that BCC can metastasize to the lung, although the currently reported metastasis rate of BCC is extremely low.

A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome.

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; thus, it mostly affects male. The disease severity varies, ranging from mild cases limited to the skin to the severe variant involving multiple extracutaneous features. A 7-year-old boy presented with scanty hair on scalp and eyebrows at birth. On physical examination, scaly patches were observed on the whole body and spiky follicular hyperkeratotic papules were observed on the face and trunk. He also suffered from severe photophobia. Histopathological examination of the scalp showed miniaturized hair follicles without perifollicular fibrosis. Genetic analysis revealed a novel mutation in the MBTPS2 gene which was a homozygous missense mutation of c.245T>C leading to an amino-acid substitution from phenylalanine to serine (p.Phe82Ser). We diagnosed this patient with IFAP syndrome. To date, 25 pathogenic MBTPS2 gene mutations have been identified. To our knowledge, c.245T>C is a novel homozygous missense mutation in the MBTPS2 gene, which has not been reported in Human Gene Mutation Database, ClinVar Database, and Leiden Open Variation Database. Previous reports suggested genotype-phenotype correlations in the MBTPS2 gene mutations. Supported by a previous notion that genotype correlates with phenotype, this novel mutation can be a predictive factor for the mild form of IFAP syndrome, restricted to the classic symptom triad.

Cryosurgery as a Minimally Invasive Alternative Treatment for a Patient with Erosive Adenomatosis of the Nipple.

Erosive adenomatosis of the nipple (EAN), also known as nipple adenoma, florid papillomatosis, or papillary adenoma of the nipple, is a benign neoplasm originating from a lactiferous duct of the breast. Although the potential for malignant change is invariably negligible, the nature of the disease is quite intractable despite several treatment methods. Surgical excision is known as the treatment of choice, but this invasive approach is generally not acceptable to the vast majority of patients due to the cosmetic outcomes. Cryosurgery could be an alternative choice to preserve the structure of the nipple-areola complex, though its application has not been studied due to the paucity of cases. A 22-year-old female presented with a unilateral, crater-like erosion of the left nipple with serosanguineous discharge. The skin biopsy revealed proliferation of tubular structures, which corresponded to EAN. She was treated with 4 sessions of cryosurgery (open cryospray with liquid nitrogen) over 6 months, and the skin lesion resolved completely without any recurrence for 12 months. Although further study is required to determine the optimal treatment regimen for EAN, cryosurgery should be considered as an effective option to surgical excision.

Benign Umbilical Tumors Resembling Sister Mary Joseph Nodule.

BACKGROUND: When physicians see an umbilical nodule, most of them instinctively recall the Sister Mary Joseph nodule. Therefore, dermatologists need to recognize umbilical dermatoses that can be mistaken for the Sister Mary Joseph nodules. This study aimed to describe the different kinds of benign umbilical tumors as well as elucidate the factors that can be used to distinguish the Sister Mary Joseph nodule from these tumors. METHODS: The "benign umbilical tumor" group included 19 patients, whereas the "Sister Mary Joseph nodule" group comprised 30 patients (2 from our department, 28 from PubMed search). We compared the clinical and dermoscopic findings between 2 groups. RESULTS: In the "benign umbilical tumor" group, the most common diagnosis was dermatofibroma (5/19), followed by keloid (3/19), and soft fibroma (3/19). These tumors had various colors (red, brown to black, and flesh colored) and exhibit characteristic surface changes (eg, verrucous changes in epidermal nevi and verrucae). Conversely, most Sister Mary Joseph nodules have an erythematous color, oozing or ulceration on the surface, and nearby satellite lesions. Furthermore, the dermoscopic findings of Sister Mary Joseph nodules showed a polymorphous vascular pattern and a white or milky-red, amorphous area. Benign lesions showed different dermoscopic patterns: pigment networks with white areas (dermatofibromas), thrombosed capillaries (verrucae), and the "pore sign" (epidermal cysts). CONCLUSIONS: Various cutaneous tumors can be mistaken for the Sister Mary Joseph nodule when they develop on the umbilicus; the clinical and dermoscopic differences found in this study may be useful for establishing a differential diagnosis.

Aplasia cutis congenita in Korea: Single center experience and literature review.

BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital malformation characterized by a localized absence of skin. which most commonly affects the scalp. We performed the present study to elucidate the basic clinical data regarding ACC in Korea, including demographics, clinical features, radiological and therapeutic results. METHODS: Fifty-nine patients (70 lesions) with ACC (35 from our department and 24 from a Koreamed database search) were enrolled. We assessed demographics, family and obstetrical histories, clinical features (multiplicity, subtype, size, shape, hair collar sign, location, and Frieden's classification), and radiologic and therapeutic results. RESULTS: The mean age of patients was 2.62 years, with a male-to-female ratio of 1.03. A minority of patients had a family history (three patients), birth trauma (one patient), maternal drug use (two patients), or human immunodeficiency virus infection (one patient) during pregnancy, and fetus papyraceus of placental infarcts (two patients). Six patients (6/59, 10.17%) had multiple lesions. Scarring was the most common manifestation (39/70, 55.71%). The scalp was the most commonly affected site (50 cases, 71.43%). Thirty-nine patients (66.10%) met Frieden's type I classification (scalp ACC without multiple anomalies). Radiological investigations were performed in 30 patients (30/59, 50.85%) with abnormal findings in eight patients. Twenty-five patients (42.37%) were managed conservatively, and 17 patients (28.81%) were treated with local wound care. CONCLUSIONS: This is the first and largest study assessing the basic clinical data of ACC in Korea. The results of the present study could be useful for pediatricians and dermatologists who routinely manage ACC.

Clinical differences between segmental nevus depigmentosus and segmental vitiligo.

Segmental nevus depigmentosus and segmental vitiligo can be difficult to differentiate from each other. Differential diagnosis of these two diseases is important because they have significantly different prognoses and psychological effects. The purpose of this study is to identify clinical clues that may be helpful in differentiating these two diseases. We enrolled 63 patients with segmental nevus depigmentosus and 149 patients with segmental vitiligo. Sex, age of onset, sites involved, dermatomal distribution, margin of lesion and presence of poliosis were evaluated in both groups. The age of onset was less than 10 years in 96.8% of segmental nevus depigmentosus and 28.9% of segmental vitiligo cases. Trunk (36.5%) and cervical (38.1%) dermatomes were the most commonly involved in segmental nevus depigmentosus and face (67.1%) and trigeminal (64.4%) dermatomes in segmental vitiligo. The average number of dermatomes involved in truncal lesions was different in segmental nevus depigmentosus and segmental vitiligo (2.71 vs 1.62, P = 0.001). Segmental vitiligo on the face, neck and trunk appeared closer to the axis than segmental nevus depigmentosus (P < 0.001). Segmental nevus depigmentosus and segmental vitiligo showed significantly different margins (90.5% and 41.6% serrated, respectively; P < 0.001). We observed clinical differences between patients with segmental nevus depigmentosus and those with segmental vitiligo. Distribution (site, distance to axis, dermatome), vertical width, margin of lesion and presence of poliosis can be helpful in differentiating segmental nevus depigmentosus and segmental vitiligo.

Quadrivalent human papilloma virus vaccine for the treatment of multiple warts: a retrospective analysis of 30 patients.

Background: Various therapeutic modalities have been implemented for wart treatment, with limited efficacy. Recently, resistant warts treated using quadrivalent human papilloma virus (HPV) vaccine have been reported, although original articles on the efficacy of quadrivalent HPV vaccine on warts are rare. Objective: We performed the present study to evaluate the efficacy of quadrivalent HPV vaccine in the treatment of multiple warts. Methods: We retrospectively reviewed 30 patients from our centers. Patient demographics, clinical features such as duration of disease, number and location of lesions, therapeutic response, and adverse reactions were assessed. Results: Regarding therapeutic response, 14 patients (46.67%) showed "Complete response", 5 (16.67%) showed "Partial response", and 11 (36.67%) showed "No response". There were no statistically significant differences in sex, age, disease duration, and lesion number and location between the three groups divided by treatment response. No severe adverse events after quadrivalent HPV vaccination were noted. Conclusion: The advantage of quadrivalent HPV vaccine in the treatment of warts is that it is more convenient and less painful. HPV vaccine might be a good alternative to conventional destructive methods for incompetent cases such as those including multiple warts, dangerous lesion locations, and uncooperative patients.

High rates of secondary non-adherence causes decreased efficacy of 0.1% topical tacrolimus in adult eczema patients: results from a multicenter clinical trial.

BACKGROUND: Patients tend to apply topical medications less frequently, in improper amounts. Not only frequency but also application amount may influence treatment outcome. However, studies on relationship between application amount and objective treatment outcome have rarely been conducted. OBJECTIVE: To assess efficacy of topical agent according to application amount in adult patients, using the finger-tip unit method. METHODS: The efficacy of 0.1% topical tacrolimus in adult patients with localised atopic dermatitis was assessed using EASI, TIS, IGA, and PGA scores at baseline, follow-up. Adherence in amount was evaluated after 2 weeks of treatment using the ratio of the actual amount applied to the expected amount applied (A/E). RESULTS: Twenty-seven patients (20.93%) used topical tacrolimus in proper amounts (A/E: 0.8-1.2). However, 86 patients (66.67%) underused topical tacrolimus; 16 (12.40%) patients overused topical tacrolimus. Decreases in EASI scores between baseline and 2 weeks of follow-up in each group (under-amount, proper amount, over-amount) were 1.64, 4.65 and 4.21, respectively. Treatment efficacy increased in accordance with application amount. Further, TIS, IGA, PGA, VAS for Itch and DLQI scores improved concomitantly, exhibiting similar tendencies. CONCLUSION: Application amount of topical agent is important in increasing treatment efficacy in adult patients with atopic dermatitis.

Fully implantable, battery-free wireless optoelectronic devices for spinal optogenetics.

The advent of optogenetic tools has allowed unprecedented insights into the organization of neuronal networks. Although recently developed technologies have enabled implementation of optogenetics for studies of brain function in freely moving, untethered animals, wireless powering and device durability pose challenges in studies of spinal cord circuits where dynamic, multidimensional motions against hard and soft surrounding tissues can lead to device degradation. We demonstrate here a fully implantable optoelectronic device powered by near-field wireless communication technology, with a thin and flexible open architecture that provides excellent mechanical durability, robust sealing against biofluid penetration and fidelity in wireless activation, thereby allowing for long-term optical stimulation of the spinal cord without constraint on the natural behaviors of the animals. The system consists of a double-layer, rectangular-shaped magnetic coil antenna connected to a microscale inorganic light-emitting diode (µ-ILED) on a thin, flexible probe that can be implanted just above the dura of the mouse spinal cord for effective stimulation of light-sensitive proteins expressed in neurons in the dorsal horn. Wireless optogenetic activation of TRPV1-ChR2 afferents with spinal µ-ILEDs causes nocifensive behaviors and robust real-time place aversion with sustained operation in animals over periods of several weeks to months. The relatively low-cost electronics required for control of the systems, together with the biocompatibility and robust operation of these devices will allow broad application of optogenetics in future studies of spinal circuits, as well as various peripheral targets, in awake, freely moving and untethered animals, where existing approaches have limited utility.

Arborizing Vessels on Dermoscopy in Various Skin Diseases Other Than Basal Cell Carcinoma.

BACKGROUND: Arborizing vessels (AVs) are dermoscopically defined as telangiectasias with distinct treelike branching, and are a characteristic feature of basal cell carcinoma (BCC). However, AVs are observed in various conditions other than BCC. OBJECTIVE: The aim of this study was to investigate skin diseases showing AV and investigates dermoscopic differences between BCC and non-BCC. METHODS: Dermoscopic images showing AV were prospectively collected and classified into BCC/non-BCC. Non-BCC was further classified into tumors (benign cystic, benign non-cystic, premalignant, and malignant) and non-tumors. We compared AV focusing, widest diameter of stem vessels, widest diameter ratio of stem vessel to first branch, and number of ramifications between groups. RESULTS: Among 124 images, 54.0% were BCC and 46.0% were non-BCC. Non-BCC included epidermal cysts, hypertrophic scars/keloids, intradermal nevi, actinic keratoses, etc. The proportion of focused AV in BCC was significantly higher and the proportion of unfocused AV in BCC was lower than that of premalignant and malignant non-BCC. The widest diameter ratio of stem vessel to first branch was higher in non-BCC. Number of ramifications was significantly less in benign cystic non-BCC than BCC. CONCLUSION: Various skin diseases showed AV, so that diagnoses other than BCC should be considered. The findings in this study could help discriminate BCC from non-BCC.

Effectiveness of Specific Sublingual Immunotherapy in Korean Patients with Atopic Dermatitis.

BACKGROUND: Sublingual immunotherapy (SLIT) with house dust mites (HDM) preparation has recently been proven to be beneficial for treating allergic rhinitis and asthma. However, there has been no report regarding the efficacy and safety of SLIT in Korean patients with atopic dermatitis (AD). OBJECTIVE: We intended to investigate the efficacy and safety of SLIT in Korean patients with AD. METHODS: A total of 34 patients with AD and immunoglobulin E (IgE)-proven HDM sensitization (Class ≥3) were recruited. Eczema area and severity index (EASI) score, total serum IgE level, specific IgE assays to Dermatophagoides pteronyssinus, D. farinae, and adverse effects were recorded during follow-up. "Responder" was defined as a patient with ≥30% improvement in EASI score after SLIT. RESULTS: Twenty-three patients continued SLIT for 12 months or more, whereas 3 patients (8.8%) dropped out because of exacerbation of dermatitis, and 8 patients (23.5%) were lost to follow-up. The average duration of SLIT treatment was 22.4 months (range, 12~32 months). EASI scores reduced significantly after 6 months of treatment (p<0.05) compared with those at baseline. A total of 18 patients were determined to be responders to SLIT after 6 months. Total and specific IgE serum levels did not significantly reduce after SLIT. No patients experienced serious adverse events, with the exception of two patients who developed transient lip and tongue swelling. CONCLUSION: Our study demonstrated that SLIT with HDM extracts is effective and tolerable in Korean patients with AD. Further controlled long-term trials are required to reinforce the current results.