ABSTRACT
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.
ABSTRACT
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, cryosur-gery should be considered as an effective option to surgical excision.
ABSTRACT
The salt and pepper appearance of the skin is composed of salt (vitiligo-like depigmentation) and pepper (perifollicular pigmentation). Mixed connective tissue disease (MCTD) is a distinct disease entity with mixed features of systemic lupus erythematosus, systemic sclerosis, myositis, and rheumatoid arthritis with high titers of antibodies to U1 ribonucleoprotein (U1RNP). There are a few reports of pigmentary changes in MCTD. A 51-year-old woman presented with variably sized hypopigmented macules along with relative hyperpigmentation of the perifollicular areas on the face and neck; she was diagnosed with MCTD in a rheumatology clinic. Histopathology revealed dermal sclerosis in both hypo- and hyperpigmented areas, loss of melanocyte and pigment only in the hypopigmented area, and normal number of melanocyte and pigment in the hyperpigmented area. To the best of our knowledge, ‘salt and pepper appearance of the skin’ has rarely been reported in MCTD.
ABSTRACT
Background@#Bacille Calmette-Guérin (BCG) vaccination has been widely used to prevent severe infections caused by Mycobacterium tuberculosis. Although BCG vaccination is generally safe, some cutaneous complications may occur. However, cutaneous complications related to BCG infection have been rarely investigated in Korea.Objective This study aimed to investigate the clinical characteristics of cutaneous complications following BCG vaccination in Korean patients. @*Methods@#We identified 18 patients with cutaneous complications following BCG vaccination in the Pusan National University Hospitals (Busan and Yangsan) from 2002 to 2019. Clinical manifestations and course were examined by the review of medical records and photographs. @*Results@#Among BCG-vaccinated persons, 18 patients manifested with BCG-specific cutaneous complications. The mean age of the patients was 10.6±10.1 months, and 10 (55.6%) were female. The specific cutaneous complications following BCG vaccination were local abscess (7, 38.9%), lymphadenitis (4, 22.2%), BCG reactivation in incomplete Kawasaki disease (4, 22.2%), tuberculid (3, 16.7%), and scrofuloderma (1, 5.6%). Disseminated BCG infection was detected in 2 brothers (11.1%) who had an immunocompromised state and a family history of BCG complication. @*Conclusion@#Specific cutaneous complications after BCG vaccination are rare, but may occur in various manifestations.
ABSTRACT
BACKGROUND: Secukinumab, a fully human monoclonal antibody that targets interleukin (IL)-17A, which is a central cytokine in the pathogenesis of psoriasis, has emerged as a promising treatment for moderate to severe psoriasis. However, to date, there are no real-world data for secukinumab in Korean patients with psoriasis. OBJECTIVE: To assess the clinical efficacy and safety of secukinumab in Korean patients with psoriasis. METHODS: Prospective data were gathered during follow-up from 28 consecutive patients with chronic plaque-type psoriasis treated with secukinumab for minimum of 12 weeks at a single referral center. Patient demographics, Psoriasis Area Severity Index (PASI) score, Physicians' Global Assessment (PGA), Dermatologic Life Quality Index (DLQI), and adverse events were investigated. RESULTS: The mean PASI score was significantly decreased after the induction period of secukinumab treatment (paired t-test, p<0.05). Of the 28 patients, 17 (60.7%) had obtained near complete clearance (PASI 90) at the last follow-up visit. No unexpected adverse events, other than nasopharyngitis, were observed. CONCLUSION: Secukinumab can be of benefit for the treatment of Korean patients with psoriasis, as the treatment was associated with a rapid and satisfactory response and safety profile.
Subject(s)
Humans , Demography , Follow-Up Studies , Interleukins , Korea , Nasopharyngitis , Prospective Studies , Psoriasis , Quality of Life , Referral and Consultation , Treatment OutcomeABSTRACT
Urticaria multiforme is a cutaneous condition observed in children. This self-limited condition is characterized by well-circumscribed, annular, and erythematous wheals, which spontaneously disappear within a few days. Patients commonly present with acral edema and show a favorable response to antihistamines. It is frequently misdiagnosed as erythema multiforme or serum sickness-like reaction owing to distinctive annular wheals with an ecchymotic center observed in patients. This condition was previously known as acute annular urticaria. The term urticaria multiforme was introduced in 2007 to highlight this specific variant of urticaria. We describe 2 patients with acral edema and transient annular wheals with dusky red centers, which were diagnosed as urticaria multiforme lesions. To our knowledge, the Korean literature includes only a single case report describing acute annular urticaria. However, the report does not use the term ‘urticaria multiforme’ to describe this condition.
Subject(s)
Child , Humans , Edema , Erythema Multiforme , Histamine Antagonists , Pigmentation , UrticariaABSTRACT
No abstract available.
Subject(s)
Acupuncture , Foreign Bodies , Granuloma, Foreign-Body , Leprosy , Leprosy, LepromatousABSTRACT
No abstract available.
Subject(s)
Neck , Neoplasm Metastasis , Thyroid Gland , Thyroid Neoplasms , ThyroidectomyABSTRACT
No abstract available.
Subject(s)
Abscess , Bisphosphonate-Associated Osteonecrosis of the JawABSTRACT
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.
Subject(s)
Carcinoma, Basal Cell , Dermoscopy , Diagnosis , Epidermal Cyst , Keratosis, Actinic , Nevus, Intradermal , Prospective Studies , Skin Diseases , Skin , TelangiectasisABSTRACT
No abstract available.
Subject(s)
Humans , Hepatitis, Autoimmune , Liver Cirrhosis, Biliary , XanthomatosisABSTRACT
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.