Case Reports in Dermatological Medicine最新文献

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Benign Proliferative Nodules in a Giant Congenital Melanocytic Nevus: Diagnostic Challenge and Management. 巨大先天性黑素细胞痣的良性增生性结节:诊断挑战和治疗。
Case Reports in Dermatological Medicine Pub Date : 2026-10-18 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/9996929
Fenohasina Rakotonandrasana, Holy Tiana Andrianjafitrimo, Onivola Raharolahy, Andrianandrianina Mbolatiana Kiady Armando Rakotomanana, Georges Cheny Fenohasina, Voahanginirina Nathalie Ralimalala, Malalaniaina Andrianarison, Fandresena Arilala Sendrasoa, Irina Mamisoa Ranaivo, Fahafahantsoa Rapelanoro Rabenja, Lala Soavina Ramarozatovo
{"title":"Benign Proliferative Nodules in a Giant Congenital Melanocytic Nevus: Diagnostic Challenge and Management.","authors":"Fenohasina Rakotonandrasana, Holy Tiana Andrianjafitrimo, Onivola Raharolahy, Andrianandrianina Mbolatiana Kiady Armando Rakotomanana, Georges Cheny Fenohasina, Voahanginirina Nathalie Ralimalala, Malalaniaina Andrianarison, Fandresena Arilala Sendrasoa, Irina Mamisoa Ranaivo, Fahafahantsoa Rapelanoro Rabenja, Lala Soavina Ramarozatovo","doi":"10.1155/crdm/9996929","DOIUrl":"https://doi.org/10.1155/crdm/9996929","url":null,"abstract":"<p><p>Congenital melanocytic nevi are cutaneous malformations present at birth, resulting from a benign proliferation of melanocytes. Although generally benign, they can have significant psychological impacts and carry a non-negligible risk of progression to malignant melanoma. We report a case of a giant congenital melanocytic nevus associated with a perianal mass in an infant, two and half-month-old infant, with no notable medical history, born at term. He was referred for a pigmented perianal swelling located on a large hyperpigmented plaque covering the lower back, buttocks, perineum, external genitalia, and the upper third of the thighs, consistent with a giant nevus. Multiple pigmented maculopapular satellite lesions were present, extending from the scalp to the soles of the feet. All lesions had been present since birth. The general examination was unremarkable. Doppler ultrasound revealed a well-defined, homogeneous, hypoechoic subcutaneous lesion with low vascularity, and skin biopsy confirmed a benign proliferative nodule. The proposed management included surgical excision, neurological and growth development follow-up, and psychosocial support for the infant and the parents. Six months after surgery, follow-up showed no evidence of recurrence, with the infant demonstrating normal neurological function and appropriate growth and developmental progress. This case highlights the importance of an accurate clinical and histological diagnosis and a multidisciplinary approach to management. It contributes to the limited local data from Madagascar and may contribute to the understanding of potential complications and their management.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"9996929"},"PeriodicalIF":0.0,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13678415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
OCT Monitoring of Low Energy Long Pulse 1064 nm Nd:YAG Laser Treatment of a Hereditary Hemorrhagic Telangiectasia-Associated Vascular Anomaly. 低能量长脉冲1064nm Nd:YAG激光治疗遗传性出血性毛细血管扩张相关血管异常的OCT监测。
Case Reports in Dermatological Medicine Pub Date : 2026-10-13 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/8810881
Feben Messele, Sara Araghi, Cameron Zachary, Natasha Mesinkovska, Kristen M Kelly
{"title":"OCT Monitoring of Low Energy Long Pulse 1064 nm Nd:YAG Laser Treatment of a Hereditary Hemorrhagic Telangiectasia-Associated Vascular Anomaly.","authors":"Feben Messele, Sara Araghi, Cameron Zachary, Natasha Mesinkovska, Kristen M Kelly","doi":"10.1155/crdm/8810881","DOIUrl":"https://doi.org/10.1155/crdm/8810881","url":null,"abstract":"<p><p>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder characterized by vascular lesions with variable treatment responses. Optical coherence tomography (OCT) can provide noninvasive bedside visualization of cutaneous vasculature and monitoring of treatment response. A 79-year-old female with HHT underwent three treatments for a vascular lesion on her right fifth digit that had been resistant to pulsed dye laser, using a long pulse 1064 nm neodymium-yttrium aluminum garnet laser. At lower fluences (50-55 J/cm<sup>2</sup>), clinical improvement was achieved without adverse effects. OCT imaging performed before and after treatment demonstrated an 89% decrease in vascular density and shallower vascular plexus depth posttreatment. OCT can be used to objectively measure changes in vascular characteristics in response to laser treatment.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"8810881"},"PeriodicalIF":0.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rare Presentation of Marginal Papular Acrokeratoderma: A Case Report and Literature Review of Costa's Acrokeratoelastoidosis of the Hand. 罕见的边缘丘疹性肢端角化病:Costa手部肢端角化弹性病1例报告及文献复习。
Case Reports in Dermatological Medicine Pub Date : 2026-10-12 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/8760488
Ricardo Cid-Puente, Paulina Vázquez-Arroyo, Karla-Yareli Saucedo-Martínez, Angelica-Beatriz Rodríguez-Baca
{"title":"Rare Presentation of Marginal Papular Acrokeratoderma: A Case Report and Literature Review of Costa's Acrokeratoelastoidosis of the Hand.","authors":"Ricardo Cid-Puente, Paulina Vázquez-Arroyo, Karla-Yareli Saucedo-Martínez, Angelica-Beatriz Rodríguez-Baca","doi":"10.1155/crdm/8760488","DOIUrl":"https://doi.org/10.1155/crdm/8760488","url":null,"abstract":"<p><p>Acrokeratoelastoidosis (AKE) is a rare benign genodermatosis characterized by keratotic papules on the lateral aspects of hands and feet. We present a case of a 25-year-old woman with a 3-year history of asymptomatic yellowish papules forming a linear plaque on the ulnar margin of her left hand. Previous treatments with topical acids and cryotherapy proved ineffective. Histopathological examination revealed hyperkeratosis, psoriasiform acanthosis, and decreased elastic fibers, confirmed by special stains. Treatment with high-potency steroids and urea cream showed modest improvement. This case highlights the importance of considering AKE in the differential diagnosis of keratotic acral lesions and demonstrates the current therapeutic limitations in managing this uncommon condition.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"8760488"},"PeriodicalIF":0.0,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cutaneous Protothecosis: Reported Human Cases in Vietnam and Diagnostic Challenges. 皮肤原鞘病:越南报告的人类病例和诊断挑战。
Case Reports in Dermatological Medicine Pub Date : 2026-10-09 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/9136305
Thuy Thi Phan Nguyen, Ba Tong Tran, Linh Pham Thi Thuy, Hoang Vu Nguyen, Nhi Thi Uyen Pham
{"title":"Cutaneous Protothecosis: Reported Human Cases in Vietnam and Diagnostic Challenges.","authors":"Thuy Thi Phan Nguyen, Ba Tong Tran, Linh Pham Thi Thuy, Hoang Vu Nguyen, Nhi Thi Uyen Pham","doi":"10.1155/crdm/9136305","DOIUrl":"https://doi.org/10.1155/crdm/9136305","url":null,"abstract":"<p><p>Protothecosis, a rare opportunistic infection caused by <i>Prototheca</i> species, achlorophyllous microalgae, is increasingly recognized but remains underdiagnosed due to its rarity and nonspecific clinical presentation. We report two cases of human protothecosis in Vietnam, occurring in a 63-year-old and 81-year-old female presenting with chronic, painful, ulcerative lesions on upper extremities. Despite initial misdiagnosis and empirical antifungal and antibacterial treatments, histopathological examination revealed characteristic <i>Prototheca</i> sporangia, leading to the definitive diagnosis. These cases underscore the importance of considering protothecosis in atypical cutaneous infections, particularly when patients fail to respond to empirical antibacterial or antifungal therapies, and highlight diagnostic and treatment challenges.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"9136305"},"PeriodicalIF":0.0,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149166230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BASCULE Syndrome in Young Children: Two Cases With Temporally Associated Viral Infections and Diagnostic Challenges. 幼儿bascle综合征:两例与时间相关的病毒感染和诊断挑战
Case Reports in Dermatological Medicine Pub Date : 2026-10-06 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/7922889
Antonio Prisco, Luigi Coronella, Maddalena Napolitano
{"title":"BASCULE Syndrome in Young Children: Two Cases With Temporally Associated Viral Infections and Diagnostic Challenges.","authors":"Antonio Prisco, Luigi Coronella, Maddalena Napolitano","doi":"10.1155/crdm/7922889","DOIUrl":"10.1155/crdm/7922889","url":null,"abstract":"<p><p>Bier anaemic spots, cyanosis and urticaria-like eruption (BASCULE) syndrome is a rare vasomotor disorder reported predominantly in adolescents. It is characterized by a distinctive triad of Bier spots, cyanotic discolouration and urticarial lesions, typically triggered by orthostatic stress. We report two cases occurring in young children aged 16 months and 4 years, an age group in which the syndrome is rarely documented and in which the presentation is easily mistaken for vasculitis, drug eruption or sepsis. In both children, the eruption was preceded by a viral infection (Epstein-Barr virus and influenza A, respectively) and both children showed morphological variants that are not classically described: unilateral acral cyanosis with refusal to bear weight in the toddler and a generalized, purpuric-appearing febrile eruption in the preschool child. In both patients, the cutaneous findings cleared within minutes of recumbency, and neither child had syncope, presyncope or other features of orthostatic intolerance. The eruption resolved with supportive care, and there was no recurrence during follow-up. The temporal relationship with viral infection observed here is consistent with previous anecdotal reports but does not establish causality, which remains unproven. Recognizing BASCULE syndrome in young children may prevent unnecessary investigations and reduce patient and caregiver anxiety.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"7922889"},"PeriodicalIF":0.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13643212/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypereosinophilia With Organ Damage Secondary to Dupilumab Therapy: A Case Report and Literature Review. Dupilumab治疗继发的嗜酸性粒细胞增多伴器官损害:1例报告和文献回顾。
Case Reports in Dermatological Medicine Pub Date : 2026-10-04 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/8570980
Manar Alotaibi, Sadeem AlHelal, Noura Alotaibi, Fahad Alsudairy
{"title":"Hypereosinophilia With Organ Damage Secondary to Dupilumab Therapy: A Case Report and Literature Review.","authors":"Manar Alotaibi, Sadeem AlHelal, Noura Alotaibi, Fahad Alsudairy","doi":"10.1155/crdm/8570980","DOIUrl":"https://doi.org/10.1155/crdm/8570980","url":null,"abstract":"<p><p>Atopic dermatitis (AD) is a chronic inflammatory skin condition characterized by pruritic, scaly, erythematous lesions, xerosis, and lichenification. Dupilumab, a monoclonal antibody targeting I- (IL)-4 and IL-13 signaling, is widely used to treat moderate to severe AD. We report a 22 year-old male with a history of asthma and chronic childhood AD who was started on dupilumab 300 mg every 2 weeks after multiple relapses despite topical therapy. Baseline Eczema Area and Severity Index (EASI), Dermatology Life Quality Index (DLQI), and Physician Global Assessment (PGA) scores were not recorded; however, the patient showed marked clinical improvement of his skin disease, with a posttreatment EASI score of 1. Five months after dupilumab initiation, he presented with palpitations and pleuritic chest pain. His absolute eosinophil count was 2070 cells/μL, increased from a pretreatment baseline of 860 cells/μL, with an elevated Troponin I of 1.56 ng/mL. Electrocardiography showed normal sinus rhythm. Cardiac magnetic resonance demonstrated myocardial edema, early gadolinium enhancement, and late gadolinium enhancement involving the interventricular septum and adjacent walls, confirming myocarditis. A comprehensive workup, including antinuclear antibody, antineutrophil cytoplasmic antibody, renal function, a respiratory viral PCR panel, stool ova and parasites, and whole exome sequencing, excluded autoimmune, infectious, and familial causes. Computed tomography of the sinuses demonstrated moderate rhinosinusitis without invasive features. A diagnosis of eosinophilic myocarditis secondary to dupilumab-associated hypereosinophilia was made. Dupilumab was discontinued, and the patient was treated with corticosteroids and colchicine, with resolution of eosinophilia and symptoms. Although dupilumab-associated eosinophilia is usually mild and transient, this case highlights the importance of maintaining a high index of suspicion for rare but serious organ involvement, particularly in patients with new cardiopulmonary symptoms or baseline eosinophilia, while recognizing that routine eosinophil monitoring is not currently recommended for all patients receiving dupilumab.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"8570980"},"PeriodicalIF":0.0,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cutaneous Pseudoepitheliomatous Hyperplasia Secondary to Embedded Canine Pet Hair Mimicking Squamous Cell Carcinoma. 皮肤假上皮瘤性增生继发于嵌埋的犬宠物毛发,类似鳞状细胞癌。
Case Reports in Dermatological Medicine Pub Date : 2026-09-23 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/4229969
Savannah G Moore, Maxmillian J Field, Logan S D'Souza
{"title":"Cutaneous Pseudoepitheliomatous Hyperplasia Secondary to Embedded Canine Pet Hair Mimicking Squamous Cell Carcinoma.","authors":"Savannah G Moore, Maxmillian J Field, Logan S D'Souza","doi":"10.1155/crdm/4229969","DOIUrl":"https://doi.org/10.1155/crdm/4229969","url":null,"abstract":"<p><p>Although benign, cutaneous pseudoepitheliomatous hyperplasia (PEH) is oftentimes difficult to distinguish from squamous cell carcinoma (SCC). PEH arises from underlying dermal neoplasia, infection, or inflammation. This case report presents the case of a patient with PEH that occurred as a reactive inflammatory response to a foreign body canine hair, which was originally misdiagnosed as SCC. This case highlights a unique etiology of PEH and the importance of using the patient's social history, physical examination, and appropriate biopsy considerations in complex dermatologic cases where pathology alone is not definitive.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"4229969"},"PeriodicalIF":0.0,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13598540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149036565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Moxifloxacin-Induced Bullous Acute Generalized Exanthematous Pustulosis (AGEP): A Case Report of a Rare Clinical Presentation. 莫西沙星致大疱性急性全身性脓疱病(AGEP):一例罕见的临床表现报告。
Case Reports in Dermatological Medicine Pub Date : 2026-09-18 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/4921907
Mehmet Yeral, Dilek Dasgin, Ceyda Tetik Aydogdu, Ekin Altinbas, Serkan Yasar Celik, Baris Bat
{"title":"Moxifloxacin-Induced Bullous Acute Generalized Exanthematous Pustulosis (AGEP): A Case Report of a Rare Clinical Presentation.","authors":"Mehmet Yeral, Dilek Dasgin, Ceyda Tetik Aydogdu, Ekin Altinbas, Serkan Yasar Celik, Baris Bat","doi":"10.1155/crdm/4921907","DOIUrl":"10.1155/crdm/4921907","url":null,"abstract":"<p><p>Acute generalized exanthematous pustulosis (AGEP) is a severe cutaneous adverse reaction (SCAR) typically characterized by sterile pustules. The bullous variant of AGEP is exceptionally rare and represents a significant diagnostic challenge as it clinically mimics toxic epidermal necrolysis (TEN). We report the case of a 91-year-old woman who developed AGEP following moxifloxacin therapy, which rapidly progressed into a bullous form. A striking and rarely described clinical phenomenon-pustules developing directly on the roof of flaccid bullae-was observed. To our knowledge, this is the first reported case of the bullous variant of AGEP specifically triggered by moxifloxacin. Despite intensive treatment, the patient succumbed to sepsis on Day 15. This case underscores the importance of recognizing atypical AGEP presentations to avoid diagnostic confusion with Stevens-Johnson syndrome (SJS)/TEN and highlights a novel severe reaction to a widely used fluoroquinolone.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"4921907"},"PeriodicalIF":0.0,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13589197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ultrasound for Early Detection of Melanoma Lymph Node Metastasis and Wire Localization of Nonpalpable Findings: A Case Report. 超声在早期发现黑色素瘤淋巴结转移和钢丝定位的不可触及的发现:1例报告。
Case Reports in Dermatological Medicine Pub Date : 2026-09-16 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/7643002
Susanne Bauer, Mark Berneburg, Bernadett Kurz, Melissa Radspieler, Konstantin Drexler, Sebastian Haferkamp, Julian Kögel
{"title":"Ultrasound for Early Detection of Melanoma Lymph Node Metastasis and Wire Localization of Nonpalpable Findings: A Case Report.","authors":"Susanne Bauer, Mark Berneburg, Bernadett Kurz, Melissa Radspieler, Konstantin Drexler, Sebastian Haferkamp, Julian Kögel","doi":"10.1155/crdm/7643002","DOIUrl":"10.1155/crdm/7643002","url":null,"abstract":"<p><strong>Background: </strong>Malignant melanoma is the skin cancer with the highest mortality rate. Accurate detection of regional lymph node metastases is crucial for staging and treatment planning. Small-volume nodal disease may remain occult on cross-sectional imaging, while ultrasound can help detect particularly small regional lymph node metastases. The increasing role of neoadjuvant therapies further emphasizes the importance of early detection.</p><p><strong>Case: </strong>We present the case of a 63-year-old patient with a 16-mm-thick, ulcerated melanoma of the right thigh, initially classified as Stage IIC. Clinical examination and CT/MRI showed no evidence of metastatic disease. However, ultrasound identified a suspicious, nonpalpable right inguinal lymph node with malignant sonographic features. Due to its proximity to the femoral vessels, CT-guided wire localization was performed prior to surgical excision. Histopathology confirmed an 8-mm lymph node metastasis, resulting in upstaging to Stage IIIC (pN1b). Adjuvant PD-1 inhibition was initiated for BRAF wild-type melanoma.</p><p><strong>Conclusion: </strong>This case highlights the potential of ultrasound to detect small-volume, radiologically occult lymph node metastases and thereby substantially alter melanoma staging and therapeutic management. In the era of neoadjuvant treatment strategies, early and accurate detection of regional metastatic disease may become increasingly important. Preoperative wire localization represents a feasible option for precise surgical removal of non-palpable lymph node metastases.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"7643002"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148988231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Male Goltz Syndrome due to Postzygotic PORCN Mosaicism: A Case Report. 男性受精卵后PORCN嵌合所致Goltz综合征1例报告。
Case Reports in Dermatological Medicine Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.1155/crdm/1302419
Vu Anh Dao Tran, Mohammed Eldoadoa, Tong Ba Tran, Nhi Thi Uyen Pham, Lam D Chau, Abdelrahman M Makram, Nguyen Tien Huy, Thuy Thi Phan Nguyen, Randa Elsheikh
{"title":"Male Goltz Syndrome due to Postzygotic <i>PORCN</i> Mosaicism: A Case Report.","authors":"Vu Anh Dao Tran, Mohammed Eldoadoa, Tong Ba Tran, Nhi Thi Uyen Pham, Lam D Chau, Abdelrahman M Makram, Nguyen Tien Huy, Thuy Thi Phan Nguyen, Randa Elsheikh","doi":"10.1155/crdm/1302419","DOIUrl":"10.1155/crdm/1302419","url":null,"abstract":"<p><p>Goltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare X-linked dominant genetic disorder caused by loss-of-function mutations in the <i>PORCN</i> gene, which is crucial for Wnt protein secretion and signaling during embryonic development. The syndrome primarily affects females, as hemizygous males with pathogenic variants in the gene typically die in utero, while surviving males are usually mosaic for the variant. Patients typically present with diverse phenotypic features, including dermal hypoplasia, musculoskeletal abnormalities, ocular malformations, and dental defects, often distributed asymmetrically along Blaschko's lines. Despite the identification of the <i>PORCN</i> gene as the main gene involved in the pathogenesis of the disease, a significant gap remains in understanding the broad spectrum of <i>PORCN</i> mutations and the resulting variability in clinical presentation among Goltz syndrome patients, particularly concerning the factors that contribute to the differences in disease severity and expression. This study reports a 9-year-old male patient presenting with non-healing skin lesions, syndactyly, limb length discrepancy, and scoliosis, consistent with clinical findings of Goltz syndrome. Whole-exome sequencing identified a hemizygous nonsense variant in the <i>PORCN</i> gene (c.915G > A), resulting in a truncated protein (p.Trp305Ter). This nucleotide-level variant is distinct from, but affects the same residue as, a previously reported pathogenic variant reported by Lasocki et al., further supporting the clinical relevance of truncating changes at this codon and providing insight into the mosaicism associated with milder male phenotypes.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2026 ","pages":"1302419"},"PeriodicalIF":0.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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