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.

Unilateral Psoriasis on the Left Leg and Poliomyelitis of the Right Leg: A Case Report and Review of the Etiology

Psoriasis is a common immune-mediated, inflammatory skin disease. However, unilateral psoriasis is rare and few cases have been reported. A 59-year-old male with a polio-affected right leg presented with exfoliative skin on the left leg for three months. He had been treated under the diagnosis of contact dermatitis with secondary infection. After the exfoliative skin lesions improved, psoriatic papules were noted, which was ultimately diagnosed as psoriasis and successfully treated with topical steroid and vitamin D agents. We propose that the Koebner phenomenon has acted as the triggering and aggravating factor of unilateral psoriasis in this patient.

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.

Giant Cellulitis-Like Sweet Syndrome Following Varicose Vein Surgery: A Rare Variant of Sweet Syndrome Mimicking Cellulitis

Giant cellulitis-like Sweet syndrome (GCS) is the most recently defined variant of Sweet syndrome (SS) which could clinically mimic wide-spreading cellulitis. Although there has been only paucity of reports in the literature, it mostly appears at lower half of the body and histologically shows dense infiltration of neutrophils with occasional histiocytoid mononuclear cells. Although its exact etiology has not been clarified, abnormal conditions (e.g., infection, malignancy and drugs) could be related triggering factors and trauma itself can be one of the causative elements as a ‘pathergy phenomenon’. GCS could be confusing manifestation especially when appeared in postoperative condition. A 69-year-old female presented with an erythematous edematous papules and plaques on the right thigh after varicose vein surgery. Skin biopsy revealed diffuse neutrophilic infiltrates that was consistent with SS. To our knowledge, there has been no report of GCS as a postoperative complication after varicose vein surgery. Physicians should be aware of this uncommon reactive neutrophilic dermatoses mimicking infectious cutaneous disease.

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.

Change in the Usage of Complementary and Alternative Medicine in the Era of Biologics Among Korean Patients With Psoriasis

Background@#Patients with long-standing psoriasis who are not treated with conventional medicine seek complementary and alternative medicine (CAM). The biological revolution in the field of psoriasis since the late 2000s has progressed, expecting clearance or almost clearance of the disease. The frequency and type of CAM usage may have changed after these advances. We aimed to investigate changes in CAM use in Korean patients with psoriasis before and after the prevalent use of biologics. @*Methods@#Patients with psoriasis who visited Pusan National University Hospitals (Busan and Yangsan) between March 2020 and June 2022 were made to complete a face-to-face structured questionnaire. These results were compared with our previous study conducted approximately 10 years ago. @*Results@#In total, 207 patients were included. Compared with the previous results, the frequency of CAM use (67.6%) increased (P < 0.001). Oriental medicine (67.1%) has most commonly been used, followed by health supplements and bath therapy. The biggest reason for using CAM was “to try all the potential treatments.” Meanwhile, negative concerns about conventional medicine (13.5%) significantly decreased during the 10-year period (P < 0.001). @*Conclusion@#Although treatment efficacy has increased with biologics development, CAM usage remains prevalent among Korean patients with psoriasis. Therefore, dermatologists need more efforts to improve patients’ understanding of conventional medicine, including biologics.

Scar Sarcoidosis: A Retrospective Investigation into Its Peculiar Clinicopathologic Presentation

Background@#Scar sarcoidosis (SS), a rare form of cutaneous sarcoidosis, develops from preexisting scars. Owing to its rarity, the clinicopathologic features and its significance in clinical prognosis have been obscure. @*Objective@#This study aimed to investigate clinical, laboratory and histopathologic findings and to clarify characteristics associated with the development of SS and systemic involvement. @*Methods@#We retrospectively assessed clinical, laboratory and histopathologic findings of SS. Clinical factors including demographics, anatomic area, number of lesion (single, multiple), presence of symptoms, latent period, injury types related to scar and the proportion of systemic involvement were investigated. @*Results@#Of the 21 patients with SS, skin lesions appeared predominantly in females (85.7%) and in the head and neck (57.1%). The mean latent period was 163.5 months and 13 patients (61.9%) had multiple lesions. Injury types were varied, with no specific type identified as associated with SS. Histologically, discrete sarcoidal granulomas surrounded by densely packed collagen bundles with a thickening of numerous fibers were observed. Ten patients (47.6%) had systemic involvement and showed significantly more of the multiple lesions, longer latent period and higher level of mean serum angiotensin-converting enzyme than those without systemic involvement. @*Conclusion@#Various causes of scar were related to SS, but no specific injury type was identified as leading to SS. Although the exact pathomechanism remains unclear, the possibility of systemic involvement could be considered when the patients have multiple lesions, longstanding scars, and elevated serum angiotensin-converting enzyme.

Venous Insufficiency is a Clear Provoker of Pigmented Purpuric Dermatosis

Background@#Pigmented purpuric dermatosis (PPD) is a chronic disorder characterized by distinct petechial hemorrhage and brownish pigmentation. The cause of PPD is unclear, but several underlying conditions are associated with it. Previous reports suggest that venous insufficiency (VI) might be related to PPD; however, a clear correlation remains unelucidated. @*Objective@#To elucidate the causal relationship between PPD and VI. @*Methods@#A total 118 patients diagnosed with PPD in the Department of Dermatology, Pusan National University Hospital from November 2006 to July 2019 were retrospectively reviewed. Doppler ultrasonography of the lower extremities was performed in 56 PPD patients, who were then divided into two groups: PPD with and without VI. We compared the clinical features between the two groups. In the PPD with VI group, we assessed the correspondence ratios between PPD and VI lateralities, and between the PPD distribution and the veins involved. @*Results@#VI was detected in 35 of the 56 patients (62.5%). The PPD with VI group was significantly associated with wider distribution, darker coloration and longer disease duration. There was a positive correlation of laterality between PPD and VI, and between PPD distribution and the vein involved. @*Conclusion@#This findings suggest that VI is a clear provoker of PPD.

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.

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.

Long-Term Analysis of Ustekinumab Therapy for Moderate-to-Severe Psoriasis in Korea / 대한피부과학회지

Background@#Ustekinumab is a humanized monoclonal antibody targeting interleukin (IL)-12 and IL-23. Although popular, data on its long-term efficacy and safety in Korean patients with psoriasis are limited. @*Objective@#To evaluate the long-term efficacy and safety of ustekinumab in Korean patients with psoriasis. @*Methods@#A retrospective study in patients with moderate-to-severe psoriasis who had been treated with ustekinumab for at least 5 years was conducted. The sex, age, body mass index, medical records, previous psoriasis therapy, psoriasis area and severity index (PASI) scores, and adverse events were evaluated. @*Results@#Twenty-five patients (median age 47.00 years) had been treated with ustekinumab for 5 years. The mean duration of psoriasis was 19.12±8.45 years, and the treatment duration with ustekinumab was 285.12±8.48 weeks. The baseline PASI was 17.52±7.38. PASI75 was achieved in 84% of the patients at week 28, and 96% of the patients maintained PASI75 during the 5-year follow-up period. Furthermore, 56% of patients reached PASI90 at 28 weeks, and 48% of patients maintained PASI90 for 5 years. No unexpected adverse events other than herpes zoster, herpes simplex, or elevated liver enzymes were reported. @*Conclusion@#Ustekinumab demonstrated long-lasting efficacy with an acceptable safety profile in Korean patients with moderate-to-severe psoriasis.

CD30＋ Large-Cell Transformation of Mycosis Fungoides Treated with Brentuximab Vedotin / 대한피부과학회지

Large-cell transformation of mycosis fungoides (LCT-MF) is an advanced stage of primary cutaneous T-cell lymphoma with a poor prognosis. Therapeutic options for these patients are often limited, and so far, they are not promising. An 81-year-old woman with a previous history of mycosis fungoides presented with aggravation of generalized erythematous scaly patches and new onset of ulcerated tumor on the abdomen for 3 months.Histopathological examination revealed a dense dermal infiltrate composed of atypical large lymphocytes. Immunohistochemically, the tumor cells were positive for CD30 expression. A diagnosis of CD30＋ LCT-MF was established. She was intensively treated with methotrexate (1 month), acitretin (1 month), and rituximab with dose-modified cyclophosphamide, doxorubicin, and prednisone (1 cycle). Despite such treatments, the improvement was minimal. Subsequently, the patient was started on brentuximab vedotin, 1.8 mg/kg intravenously once every 3weeks. She responded well to brentuximab therapy, and the skin lesions completely subsided within 12 weeks of treatment.

Clinical Features and Outcome of Juvenile Dermatomyositis: A Retrospective Study and Literature Review / 대한피부과학회지

Background@#Juvenile dermatomyositis (JDM) is a rare but common childhood idiopathic inflammatory myopathy. Proximal muscle weakness and pathognomonic skin rash, Gottron papules, and heliotrope rash are characteristic clinical features of JDM. However, clinical analysis of JDM has rarely been reported in the Korean dermatologic literature. @*Objective@#This study aimed to investigate the clinical features and outcomes of JDM in Korea and previous studies. @*Methods@#We retrospectively reviewed the medical records and clinical photographs of patients diagnosed with JDM at Pusan National University Hospital (Busan and Yangsan) for 17 years (2005∼2021). @*Results@#We encountered 12 patients with JDM (male to female ratio=7:5) with a mean age of 7.2 years. The most common clinical features were Gottron papules (100%), followed by Gottron sign (83.3%), malar rash (58.3%), heliotrope rash (41.7%), shawl sign (16.7%), calcinosis cutis (8.3%), and ulcer (8.3%). In all cases, there was no concurrent interstitial lung disease or an underlying malignancy. Only 1 of 12 patients complained of proximal muscle weakness, and four patients showed an increase in muscle enzymes in the laboratory test. The skin lesions gradually improved after systemic steroid or topical treatment in all cases. No additional proximal muscle weakness was found during the follow-up. @*Conclusion@#Although proximal muscle weakness is a common symptom in JDM, clinically amyopathic JDM is commonly found in dermatologic clinics. Regardless of subtype, all patients responded well to treatment and rarely encountered recurrence.

Omalizumab for Cyclosporine-resistant Chronic Spontaneous Urticaria:A Retrospective Study of a Single Center / 대한피부과학회지

Background@#Cyclosporine is a recommended third-line treatment for chronic spontaneous urticaria (CSU) that is resistant to H1-antihistamines according to the EAACI/GA 2 LEN/EDF/WAO guidelines for management of urticaria. However, some patients with refractory urticaria do not respond to cyclosporine or antihistamines. Omalizumab, a humanized anti-immunoglobulin E antibody, has been shown to be effective and safe for antihistamine-resistant CSU. However, there are few reports on the efficacy of omalizumab in patients with CSU who are resistant to cyclosporine. @*Objective@#To evaluate the efficacy of omalizumab in patients with cyclosporine-resistant CSU. @*Methods@#Recalcitrant CSU patients who had symptoms (seven-day urticaria activity score, UAS7≥7) despite being administered cyclosporine (3∼5 mg/kg/day) and H1-antihistamine at up to a four-fold increased dose for 4 weeks were included in this study. Omalizumab was administered at 150 mg or 300 mg by subcutaneous injection every 4 weeks. Efficacy was assessed using UAS7 12 weeks after the initial administration of omalizumab. @*Results@#A total of 28 patients (18 women, 10 men) with an average age of 43.8 years were included in the study. The mean duration of CSU was 40.0 (2∼288) months, and the mean UAS7 at baseline was 14.2 (9∼35) months. Overall, 22 patients (78.6%) showed a complete (UAS7=0) or partial response (0＜UAS7≤6) at 12 weeks. Patients who were administered 300 mg of omalizumab had a more complete response (9/15, 60%) than those who were treated with 150 mg (3/13, 23.1%). @*Conclusion@#Omalizumab is an effective therapy for CSU patients who do not respond to cyclosporine.