Two Cases of Mycosis Fungoides Diagnosed during Dupilumab Treatment / 대한피부과학회지

Dupilumab, a human monoclonal antibody targeting the interleukin-4 receptor α, has exhibited rapid and remarkable therapeutic efficacy in numerous clinical trials focusing on moderate-to-severe atopic dermatitis and prurigo nodularis. Nonetheless, instances of mycosis fungoides have been reported in patients undergoing dupilumab treatment for atopic dermatitis. We present two cases: a 36-year-old woman and a 64-year-old man who presented to our dermatology clinic with erythematous papules and plaques. Following skin biopsy, both patients were diagnosed with chronic eczematous dermatitis with prurigo. Erythematous plaques notably increased after 9 months and 1 month of dupilumab treatment, respectively. Subsequent biopsies confirmed histopathological markers consistent with mycosis fungoides. The first patient underwent chemotherapy for lymph node metastasis, while the second received oral acitretin, narrow-band ultraviolet B, and topical corticosteroids.

A Case of Acanthosis Nigricans with Hypochondroplasia due to FGFR3 Gene (p.Lys650Thr) Mutation / 대한피부과학회지

Acanthosis nigricans (AN) is characterized by velvety hyperpigmented plaques, usually observed in skin folds. The different types of the condition include obesity-associated, syndromic, drug-induced, malignancy-related, and other types of AN. AN, an FGFR3 gene mutation-related disease, is associated with varying degrees of skeletal disorders. FGFR3 gene mutations are known to cause excessive inhibition of chondrocyte growth and keratinocyte proliferation, which is responsible for AN development. To our knowledge, only a small number of cases of AN with hypochondroplasia due to FGFR3 gene mutation (p.Lys650Thr) have been described in the literature. However, there are no reports of genetically confirmed AN with hypochondroplasia in Korea. Physicians should consider syndromic AN when symptoms develop at an early age or when associated skeletal anomalies are present.

A Case of Plaque Psoriasis Associated with Myasthenia Gravis and Graves’ Disease / 대한피부과학회지

Psoriasis is a common immune-mediated skin disease. Myasthenia gravis and Graves’ disease are autoimmune diseases caused by autoantibodies against receptors located at the neuromuscular junction and thyroid-stimulating hormone receptor, respectively. A 29-year-old male presented with recurrent multiple erythematous scaly papules and plaques on his legs that had persisted for 3 years. A diagnosis of plaque psoriasis was made based on clinicopathological findings. The patient had a 26-year history of ocular myasthenia gravis, for which he had not been received any specific treatment. He also had a long history of Graves’ disease. To the best of our knowledge, psoriasis with myasthenia gravis and Graves’ disease has not been reported previously in the literature. Herein, we describe our examination of the causes of concurrent psoriasis, myasthenia gravis, and Graves’ disease.

Clinical Efficacy and Safety of Risankizumab for the Treatment of Moderate to Severe Psoriasis in Korea / 대한피부과학회지

Background@#Risankizumab, human immunoglobulin G1λ monoclonal antibody, selectively blocks the p19 subunit of interleukin-23-mediated signaling pathway. Risankizumab has emerged as an effective and well-tolerated therapeutic option for moderate-to-severe psoriasis. However, real-world data on treatment outcomes of risankizumab in Korean patients with psoriasis are limited. @*Objective@#To investigate the efficacy and safety of risankizumab in Korean patients with moderate-to-severe plaque psoriasis. @*Methods@#We retrospectively reviewed patients with moderate-to-severe psoriasis who were treated with risankizumab in our hospital from July 2020 to December 2022. A total of 45 patients with psoriasis who were treated with risankizumab for at least 16 weeks were included in this study. Patient demographics, Psoriasis Area and Severity Index (PASI) scores, Investigator’s Global Assessment scores, and adverse events were assessed. @*Results@#The mean baseline PASI score (13.1±7.7) was significantly decreased after 16 weeks of risankizumab treatment (0.9±1.4) (p＜0.05). Of the 45 patients, 40 showed a PASI 90 response at the last follow-up visit. No serious adverse events were observed. Three patients (6.7%) experienced mild adverse events such as injection site reaction, easy bruising, and headache. @*Conclusion@#Our real-world data demonstrated that risankizumab treatment is effective and safe in Korean patients with moderate-to-severe plaque psoriasis.

A Case of Weathering Nodules of the Ear / 대한피부과학회지

Weathering nodules are benign skin conditions of the ear typically occurring in patients with a history of persistent sun exposure. Clinically, they appear as multiple localized, skin-colored to whitish papules or nodules in the ear helix. Histopathologically, weathering nodules are characterized by chondroid metaplasia with spurs of fibrous tissue extending upward from the disrupted perichondrium of the underlying pinna cartilage. We report the case of a 19-year-old man who presented with multiple localized whitish papules on the right ear helix for a month. The lesions were asymptomatic and accompanied by a blanch sign. Histopathological examination revealed chondroid metaplasia in the dermis, separate from the pinna cartilage. Based on the clinicopathological findings, weathering nodules of the ear was diagnosed.

A Case of Hystrix-Like Ichthyosis and Deafness Syndrome with a Rare Variant of Gap Junction Protein Beta 2 Gene Mutation / 대한피부과학회지

Hystrix-like ichthyosis and deafness (HID) syndrome is a rare ectodermal dysplasia characterized by erythrokeratoderma and hearing impairments. HID syndrome is a nonocular variant of keratitis ichthyosis deafness (KID) syndrome caused by an autosomal dominant mutation in the gap junction protein β 2 (GJB2) gene. The GJB2 gene encodes connexin 26, a transmembrane protein involved in cell–cell attachment in almost all tissues. We report a case of a 25-year-old man with generalized hyperkeratotic plaques, diffuse palmoplantar keratoderma, and nail deformities since birth. The patient also had a history of recurrent bacterial skin infections in the existing hyperkeratotic lesions. Histopathological examination revealed compact hyperkeratosis and irregular acanthosis in the epidermis, along with upper dermal lymphocytic infiltration. Audiometry revealed high-frequency sensorineural hearing loss. Genetic analysis revealed a missense mutation in the GJB2 gene. Based on clinicopathological findings and genetic testing, HID syndrome was diagnosed.

Clinical Efficacy and Safety of Dupilumab for the Treatment of Moderate to Severe Atopic Dermatitis in Korea: A Real-World Data in a Single Medical Center / 대한피부과학회지

Background@#Dupilumab is a human monoclonal antibody against interleukin-4 receptor α. Several clinical trials have demonstrated the rapid and excellent therapeutic effects of dupilumab. Although a growing number of studies have reported data on the real-world efficacy and safety of dupilumab for the treatment of atopic dermatitis, data on real-world experiences in Korea are limited. @*Objective@#To evaluate the real-world efficacy and safety of dupilumab for the treatment of moderate-to-severe atopic dermatitis in Korean patients. @*Methods@#This was a retrospective, single-center study. A total of 179 patients treated with dupilumab for at least 16 weeks were enrolled in this study. Based on electronic medical records, the clinical characteristics, Eczema Area and Severity Index (EASI) score, and adverse events were investigated. @*Results@#The mean baseline EASI score (26.5±7.2) significantly decreased at weeks 16, 40, 52, and 112 (p＜0.05). All and 55.2% of patients achieved EASI75 and EASI90 responses at week 52, and all and 75.0% of patients achieved EASI75 and EASI90 responses at week 112, respectively. Common adverse events were facial erythema (31.8%), conjunctivitis (24.0%), and herpes simplex virus infection (11.2%). Three serious adverse events of severe conjunctivitis, mycosis fungoides, and mesenteric venous thrombosis resulted in discontinuation of dupilumab. @*Conclusion@#Dupilumab was effective in real-world clinical practice with a favorable safety profile in Korean patients with moderate-to-severe atopic dermatitis.

A Case of Variant Turner Syndrome with Multiple Café-au-lait Spots / 대한피부과학회지

The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots.

Which Areas Are Still Left in Biologics Responsive Korean Patients with Moderate to Severe Plaque Psoriasis

Background@#Psoriasis localized to certain body areas, such as the scalp, nails, palms, soles, intertriginous regions, and genital regions, is reportedly difficult to treat. @*Objective@#To investigate the biologics-resistant areas in South Korean patients with psoriasis treated with biologics. @*Methods@#The study included 50 patients with chronic moderate to severe plaque psoriasis from the Pusan National University Hospital and Chosun University Hospital between October 2019 and September 2020. The patients had at least one psoriatic lesion, were treated with biologics for more than six months, and exhibited a partial or good response (reaching a Psoriasis Area and Severity Index [PASI] score of 1~5 after biologics treatment). @*Results@#A total of 50 patients with psoriasis (32 male, mean±standard deviation 47.8±11 years), with a median PASI score of 1.8, were included. The most common biologics-resistant areas were the anterior lower leg (56.0%), followed by the knee (48.0%) and posterior lower leg (42.0%). The proportion of biologics-resistant areas were obtained for body regions traditionally considered as difficult-to-treat entities, including the fingernails (10.0%), toenails (14.0%), scalp (38.0%), palm (12.0%), sole (14.0%), and genital areas (10.0%). @*Conclusion@#This study determined the biologics-resistant areas in South Korean patients, successfully treated with biologics, in a real-world clinical setting.

The Importance of Ultrasonography in the Diagnosis of Epidermal Cysts and Lipomas in the Field of Dermatology / 대한피부과학회지

Background@#Ultrasonography (US) is a simple and reliable tool that can aid in the diagnosis of benign subcutaneous lesions such as epidermal cysts and lipomas. @*Objective@#This study aimed to determine the efficacy of US for the differential diagnosis of epidermal cysts and lipomas. @*Methods@#A retrospective study of 100 patients with epidermal cysts (n=45) or lipomas (n=55) who underwent US and then received a pathological diagnosis in the dermatology department of Pusan National University Hospital was conducted. @*Results@#US and clinical impressions accurately diagnosed the epidermal cysts in 90.0% and 88.0% of the patients, respectively, and the lipomas in 92.0% and 88.0% of the patients, respectively. US combined with clinical impression significantly increased the diagnostic yield of epidermal cysts (98%) and lipomas (99%). On US, the frequency of posterior acoustic enhancement was higher for the epidermal cysts than for the lipomas (82.2% and 29.1%, respectively; p＜0.001), and striated echoes such as internal linear echogenic reflections and dark clefts were more frequently found in the lipomas than in the epidermal cysts (90.9% and 6.7%, respectively; p＜0.001). @*Conclusion@#This study implies that the diagnostic role of US can be greatly enhanced by knowledge of the clinical presentation.

Efficacy and Safety of Ixekizumab for the Treatment of Moderate to Severe Psoriasis in Korea / 대한피부과학회지

Background@#Ixekizumab is a humanized IgG4 monoclonal antibody that selectively binds to the IL-17A cytokine and inhibits its interaction with the IL-17 receptor. It has emerged as an effective treatment for moderate to severe psoriasis. However, to date, there are no real-world data for the use of ixekizumab in the treatment of psoriasis in Korean patients. @*Objective@#To evaluate the effectiveness and safety of ixekizumab in the treatment of moderate to severe psoriasis in Korean patients. @*Methods@#This was a retrospective single-center study. Thirty psoriasis patients who were treated with ixekizumab were analyzed. All patients’ medical records, Psoriasis Area and Severity Index (PASI) score, body surface area (BSA), Physicians’ Global Assessment (PGA), and adverse events were investigated. @*Results@#A significant reduction in mean (±standard deviation) baseline PASI score (14.1±2.6) was detected at 4 weeks of ixekizumab therapy (3.8±2.7, p＜0.001), with a further improvement at weeks 12 and 24 (0.9±0.7 and 0.5±0.5, respectively) (p＜0.001). Our analysis showed that 100%, 87.5%, and 50% of patients achieved PASI 75, 90, and 100 responses, respectively, after 48 weeks of therapy. However, nine patients (30%) experienced a mild adverse event such as injection site reaction, urticaria, upper respiratory tract infection, and stomatitis. No serious adverse events were observed. @*Conclusion@#This study provides evidence for the use of ixekizumab in real-world clinical practice and confirm that it is effective and safe in treating Korean patients with moderate to severe psoriasis.

A Case of ‘Salt and Pepper Appearance of the Skin’ in Mixed Connective Tissue Disease / 대한피부과학회지

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.

Clinical Study of Specific Cutaneous Complications after BCG Vaccination / 대한피부과학회지

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.