Case Reports in Dermatology最新文献

筛选
英文 中文
Punctate Porokeratosis Presenting as Multiple Hyperkeratotic Papules on the Bilateral Hands: A Case Report. 点状角化症表现为双侧双手多发角化性丘疹1例。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-20 eCollection Date: 2026-01-01 DOI: 10.1159/000553487
Xiaojing Bu, Siyuan Yao, Ling Huang, Ruoyan Tong
{"title":"Punctate Porokeratosis Presenting as Multiple Hyperkeratotic Papules on the Bilateral Hands: A Case Report.","authors":"Xiaojing Bu, Siyuan Yao, Ling Huang, Ruoyan Tong","doi":"10.1159/000553487","DOIUrl":"10.1159/000553487","url":null,"abstract":"<p><strong>Introduction: </strong>Punctate porokeratosis (PK) is a rare variant of PK characterized by small, keratotic papules on the palms and soles. It may occur in adolescence or early adulthood, and it is diagnosed mainly based on the histopathological findings of a cornoid lamella. In this report, we described a case with atypically larger papules and distinct dermoscopic features.</p><p><strong>Case presentation: </strong>A 36-year-old woman presented with a 1-year history of asymptomatic hyperkeratotic papules on both hands. Physical examination showed multiple, discrete, translucent, hyperkeratotic papules measuring 2-8 mm in diameter (larger than the classic papules of 1-2 mm in diameter) on the palms and fingers. Dermoscopic examination revealed a light red background with yellowish-white scales and irregular vascular structures, whereas the typical \"double-track\" sign was absent.</p><p><strong>Conclusion: </strong>Histopathological examination is essential for diagnosing punctate PK, particularly in cases where lesions are unusually large or dermoscopic presentations are atypical.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"548-553"},"PeriodicalIF":0.7,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13499645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788368","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
Martorell Hypertensive Ischemic Leg Ulcer and Digital Auto-Amputation in an Obese Young Male with Systolic Heart Failure: Case Report. Martorell高血压缺血性腿部溃疡和数字自动截肢1例肥胖青年男性合并收缩期心力衰竭病例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-18 eCollection Date: 2026-01-01 DOI: 10.1159/000551170
Paarth Dodia, Bart W B Sweers, David R Roy
{"title":"Martorell Hypertensive Ischemic Leg Ulcer and Digital Auto-Amputation in an Obese Young Male with Systolic Heart Failure: Case Report.","authors":"Paarth Dodia, Bart W B Sweers, David R Roy","doi":"10.1159/000551170","DOIUrl":"https://doi.org/10.1159/000551170","url":null,"abstract":"<p><strong>Introduction: </strong>Martorell hypertensive ischemic leg ulcers (HYTILUs) is a rare, painful, and rapidly progressive lower extremity ulcer associated with long-standing, poorly controlled systemic hypertension. It most commonly affects obese women between the fifth and seventh decades of life and is characterized by microvascular arteriolosclerosis with preserved distal pulses. Diagnostic delay is frequent due to clinical overlap with venous ulceration, calciphylaxis, vasculitis, and pyoderma gangrenosum.</p><p><strong>Case presentation: </strong>A 27-year-old obese African American man with uncontrolled hypertension presented with a 2-year history of bilateral, painful, non-healing lower extremity ulcers. The lesions began as erythematous indurated plaques that progressively ulcerated despite compression therapy, debridement, and enzymatic wound care. On examination, he had deep, punched-out necrotic ulcers on the dorsal feet and toes, marked non-pitting edema, intact pedal pulses, and severe hypertension (210/104 mm Hg). Extensive laboratory, microbiologic, and vascular investigations were unremarkable, and Doppler studies excluded significant arterial or venous occlusive disease. Histopathology was nondiagnostic but did not support vasculitis or infection. Further evaluation revealed decompensated systolic heart failure with a left ventricular ejection fraction of 27% due to idiopathic cardiomyopathy. Following aggressive cardiovascular optimization and diuresis resulting in substantial fluid loss, the patient's edema and ulcerations improved markedly with conservative wound care alone. Notably, he developed spontaneous auto-amputation of the distal phalanx of the right second toe, a complication not previously described in association with HYTILU.</p><p><strong>Conclusion: </strong>This case highlights an unusual demographic presentation of HYTILU in a young male with severe systolic heart failure and documents digital auto-amputation as a novel complication. The patient's clinical course underscores the central role of uncontrolled hypertension and microvascular compromise in disease pathogenesis, as well as the importance of addressing systemic cardiovascular pathology to achieve wound healing. Early recognition of HYTILU and differentiation from mimickers such as calciphylaxis and pyoderma gangrenosum are essential as management strategies differ substantially. Maintaining a high index of suspicion in atypical populations may prevent misdiagnosis, inappropriate interventions, and irreversible tissue loss.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"542-547"},"PeriodicalIF":0.7,"publicationDate":"2026-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13493108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788252","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
Clinically Suspected Eyelid Conjunctival Metastasis from Cutaneous Angiosarcoma Responding to Palliative Radiotherapy: A Case Report. 临床怀疑眼睑结膜转移的皮肤血管肉瘤对姑息性放疗的反应:1例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-16 eCollection Date: 2026-01-01 DOI: 10.1159/000553629
Riku Shirato, Mami Kudo, Wataru Yamagata, Teruki Yanagi
{"title":"Clinically Suspected Eyelid Conjunctival Metastasis from Cutaneous Angiosarcoma Responding to Palliative Radiotherapy: A Case Report.","authors":"Riku Shirato, Mami Kudo, Wataru Yamagata, Teruki Yanagi","doi":"10.1159/000553629","DOIUrl":"https://doi.org/10.1159/000553629","url":null,"abstract":"<p><strong>Introduction: </strong>Cutaneous angiosarcoma is a rare and highly aggressive vascular malignancy that commonly arises on the scalp and face of elderly individuals. It frequently metastasizes to visceral organs, whereas ocular involvement is exceedingly uncommon.</p><p><strong>Case presentation: </strong>We report a case of clinically suspected eyelid conjunctival metastasis from cutaneous angiosarcoma in a man in his 60s. The primary tumor involved the left scalp and cheek and was treated with intensity-modulated radiotherapy combined with weekly paclitaxel for 7 months. Although an initial response was observed, the disease progressed with distant metastases to the lungs, liver, and brain. During the terminal stage, a rapidly enlarging hemorrhagic lesion developed on the conjunctiva of the right eyelid, outside the previously irradiated field. Because of the patient's poor general condition, histopathological confirmation was not feasible. Based on the clinical course and characteristic appearance, the lesion was clinically diagnosed as conjunctival metastasis. Short-course palliative radiotherapy achieved effective hemostasis and symptomatic relief.</p><p><strong>Conclusion: </strong>This case highlights an unusual metastatic presentation of cutaneous angiosarcoma and supports the role of palliative radiotherapy in managing symptomatic ocular lesions.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"521-525"},"PeriodicalIF":0.7,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13489613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788276","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
Primary Extramammary Paget Disease of the Perineum Mimicking Chronic Dermatitis: A Case Report. 会阴原发性乳腺外Paget病模拟慢性皮炎1例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-16 eCollection Date: 2026-01-01 DOI: 10.1159/000552610
Hasan Kh A H A Ashkanani, Sarah Qasem, Alsadat Mosbeh, Reem Alneebari, Abdullah AlMubarki, Baydaa AlSannan, Abeer Abdullah AlBazali
{"title":"Primary Extramammary Paget Disease of the Perineum Mimicking Chronic Dermatitis: A Case Report.","authors":"Hasan Kh A H A Ashkanani, Sarah Qasem, Alsadat Mosbeh, Reem Alneebari, Abdullah AlMubarki, Baydaa AlSannan, Abeer Abdullah AlBazali","doi":"10.1159/000552610","DOIUrl":"https://doi.org/10.1159/000552610","url":null,"abstract":"<p><strong>Introduction: </strong>Extramammary Paget's disease (EMPD) is a rare cutaneous adenocarcinoma that typically arises in apocrine gland-rich areas of the skin (genital, perianal, axillary regions) of older adults. Clinically, it often presents as a chronic eczematous or pruritic plaque that can be mistaken for benign dermatoses.</p><p><strong>Case report: </strong>We report a 65-year-old postmenopausal woman with a 3-year history of a slowly expanding, itchy perineal plaque. The lesion was initially misdiagnosed as dermatitis and treated unsuccessfully with topical steroids, antifungals, and antibiotics. Examination revealed an indurated, verrucous plaque on the perineum with areas of flesh-colored, hypopigmented, and violaceous discoloration. There were no lymphadenopathy or other lesions. A punch biopsy showed epidermal hyperkeratosis and acanthosis with scattered <i>pagetoid</i> cells (large pale pleomorphic cells with atypical nuclei and mitoses) throughout the epidermis. Immunohistochemistry demonstrated tumor cell positivity for cytokeratin 7 (CK7), carcinoembryonic antigen (CEA), gross cystic disease fluid protein-15 (GCDFP-15), and HER2, consistent with primary EMPD. Metastatic workup, including pelvic MRI and colonoscopy, revealed no underlying internal malignancy. The patient underwent wide local excision with clear margins.</p><p><strong>Conclusion: </strong>This case highlights the importance of considering EMPD in chronic refractory anogenital dermatoses of the elderly. The CARE checklist was utilized in the writing of this case. Early skin biopsy and histopathologic examination are crucial for diagnosis. Definitive treatment with surgical excision offers the best chance for cure, and thorough evaluation for underlying carcinoma is essential in guiding management and follow-up.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"526-534"},"PeriodicalIF":0.7,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13489609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788423","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
Atypical Lupus Erythematosus Profundus of the Flank Evaluated by Serial Computed Tomography and Managed with Hydroxychloroquine: A Case Report. 非典型侧腹深红斑狼疮系列计算机体层摄影评价及羟氯喹治疗1例。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-13 eCollection Date: 2026-01-01 DOI: 10.1159/000553565
Takuma Yoshioka, Kazuya Goto, Hiroyuki Irie, Ayako Kojima, Kenji Kabashima
{"title":"Atypical Lupus Erythematosus Profundus of the Flank Evaluated by Serial Computed Tomography and Managed with Hydroxychloroquine: A Case Report.","authors":"Takuma Yoshioka, Kazuya Goto, Hiroyuki Irie, Ayako Kojima, Kenji Kabashima","doi":"10.1159/000553565","DOIUrl":"https://doi.org/10.1159/000553565","url":null,"abstract":"<p><strong>Introduction: </strong>Lupus erythematosus profundus (LEP) is a rare form of chronic cutaneous lupus erythematosus that predominantly involves the subcutaneous adipose tissue. When it presents at an atypical site, LEP may mimic infection or neoplasia, delaying diagnosis.</p><p><strong>Case presentation: </strong>A 37-year-old woman presented with a progressively enlarging ulcerated indurated lesion on the left flank. An initial biopsy performed at another hospital raised concern for a lymphoproliferative disorder. Computed tomography (CT) demonstrated panniculitic changes in the left flank and additional clinically occult lesions in the right buttock and left thigh. An incisional biopsy from the thigh, selected on the basis of the CT findings, showed interface dermatitis, lymphoplasmacytic panniculitis, dermal mucin deposition, and granular IgM deposition along the dermoepidermal junction, supporting a diagnosis of LEP and arguing against cutaneous lymphoma. Treatment with prednisolone followed by adjunctive hydroxychloroquine (HCQ) led to ulcer healing and radiologic improvement, allowing gradual corticosteroid tapering without relapse to date.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering LEP in atypical deep truncal lesions. In this patient, CT was useful for defining disease extent, identifying clinically occult lesions, selecting a biopsy site, and documenting treatment response. HCQ may also be a useful steroid-sparing adjunct in LEP.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"514-520"},"PeriodicalIF":0.7,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13472614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148758207","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
Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report. 巴西东南部的一种色素性干皮病变异型的新变异和可能的新创始效应:病例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-10 eCollection Date: 2026-01-01 DOI: 10.1159/000553414
Leonardo Ávila Ferreira, Mara Sanches Guaragna, Carlos Eduardo Steiner, Maria Letícia Cintra, Eliane Maria Ingrid Amstalden
{"title":"Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report.","authors":"Leonardo Ávila Ferreira, Mara Sanches Guaragna, Carlos Eduardo Steiner, Maria Letícia Cintra, Eliane Maria Ingrid Amstalden","doi":"10.1159/000553414","DOIUrl":"10.1159/000553414","url":null,"abstract":"<p><strong>Introduction: </strong>Xeroderma pigmentosum (XP) is a group of genodermatoses with autosomal recessive inheritance, comprising 9 subtypes designated A to J plus a variant (V) type, clinically characterized by increased photosensitivity, with specific subtypes more prone to ocular disease and progressive neurodegeneration.</p><p><strong>Case presentation: </strong>Three patients with the XP-V variant, a pair of sisters and an unrelated individual, presented with a novel homozygous c.1245-1G>A intronic splice site variant in the <i>POLH</i> gene classified as likely pathogenic. They exhibited numerous freckles and hypo- and hyperpigmented lesions that evolved into basal cell and squamous cell carcinomas, as well as thin malignant melanocytic lesions, photophobia, conjunctival telangiectasis, ectropion, and pterygia, without neurological symptoms.</p><p><strong>Conclusion: </strong>The possibility of dealing with a new founder effect for this specific variant in the State of Minas Gerais, in the Southeast region of Brazil, is suggested.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"500-507"},"PeriodicalIF":0.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148720682","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
A Case Report of Eosinophilic Annular Erythema Treated with Dapsone and Associated Changes in Serum Thymus and Activation Levels. 氨苯砜治疗嗜酸性环状红斑1例及血清胸腺和激活水平的变化。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-06 eCollection Date: 2026-01-01 DOI: 10.1159/000553424
Toshiyuki Sato, Akihiko Asahina, Yoshimasa Nobeyama
{"title":"A Case Report of Eosinophilic Annular Erythema Treated with Dapsone and Associated Changes in Serum Thymus and Activation Levels.","authors":"Toshiyuki Sato, Akihiko Asahina, Yoshimasa Nobeyama","doi":"10.1159/000553424","DOIUrl":"10.1159/000553424","url":null,"abstract":"<p><strong>Introduction: </strong>Eosinophilic annular erythema (EAE) is an inflammatory dermatosis characterized clinically by pruritic annular erythematous lesions and histopathologically by eosinophilic dermal infiltration, usually without flame figures. To date, neither standardized therapeutic guidelines nor established biomarkers reflecting disease activity have been identified.</p><p><strong>Case presentation: </strong>A 50-year-old woman was referred to us with a 1-month history of annular erythema that was refractory to topical corticosteroids and antihistamines. The patient had no medical history of any diseases including bronchial asthma and allergic rhinitis, beyond rectal cancer. The patient did not take any medicines including dietary supplements. Physical examination showed annular erythematous lesions on the lower extremities and trunk. Blood examination showed eosinophil count of 500/µL and thymus and activation-regulated chemokine (TARC), 1,959 pg/mL, with no autoantibodies. Histopathological examination of annular erythema revealed dense perivascular infiltration of eosinophils in the superficial dermis. After exclusion of major differential diagnoses, a diagnosis of EAE was established. Low-dose systemic corticosteroid therapy was initiated but the disease was exacerbated with increasing serum TARC level of 17,310 pg/mL. However, the addition of dapsone at 50 mg/day to prednisolone at 0.5 mg/kg/day resulted in rapid resolution of newly developed lesions along with decreased serum TARC level, allowing for subsequent tapering and discontinuation of corticosteroid.</p><p><strong>Conclusion: </strong>This single case suggests that serum TARC levels may reflect disease activity in EAE. However, further studies are needed to determine whether TARC can serve as a reliable disease activity biomarker in this disease.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"492-499"},"PeriodicalIF":0.7,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13456674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705516","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
Carcinoma Cuniculatum of the Hand: A Case Report. 手部鞘状癌1例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-07-03 eCollection Date: 2026-01-01 DOI: 10.1159/000553318
Mathilde Longrée, Marie Annick Reginster, Jorge E Arrese, Arjen F Nikkels
{"title":"Carcinoma Cuniculatum of the Hand: A Case Report.","authors":"Mathilde Longrée, Marie Annick Reginster, Jorge E Arrese, Arjen F Nikkels","doi":"10.1159/000553318","DOIUrl":"10.1159/000553318","url":null,"abstract":"<p><strong>Introduction: </strong>Cutaneous squamous cell carcinoma (cSCC) is a common malignant skin cancer arising from epidermal squamous cells, typically developing on chronically sun-exposed skin. The clinical diagnosis of cSCC is usually rather straightforward, although one should be aware of rare and atypical subtypes.</p><p><strong>Case presentation: </strong>An 83-year-old woman, hospitalized for the workup of auricular fibrillation, presented a 10 × 5.5 cm, indolent, indurated, slightly purulent, tumoral mass on her left hand, that progressively increased in volume since around 2 years. There was no functional failure and no locoregional adenopathies. The first punch biopsy favored a keratoacanthoma. The culture of the purulent discharge revealed no microorganisms. MRI did not reveal any deep soft tissue or bone invasion. Excisional surgery was performed under local anesthesia. Histology revealed a well-differentiated cSCC-like exophytic tumor with an endophytic architecture composed of tortuous, keratin-filled, interconnected crypts, highly suggestive of cSCC of the cuniculatum type.</p><p><strong>Conclusion: </strong>Carcinoma cuniculatum is an exceptional subtype of cSCC, with an indolent clinical evolution and a well-differentiated histological presentation. Dermatologists and plastic surgeons should be aware of this rare type of cSCC that is to be differentiated from verrucous carcinoma, keratoacanthoma, cSCC and pseudo-epitheliomatous hyperplasia. Aggressive therapy must be avoided as deep invasion is exceptional, the growth is highly indolent and locoregional or systemic metastatic lesions are nearly never observed. Surgical excision is the cornerstone of treatment.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"508-513"},"PeriodicalIF":0.7,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148721077","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
Co-Occurrence of En Coup de Sabre, Parry-Romberg Syndrome, and Hemimasticatory Spasm: A Case Report. 双刀刀、Parry-Romberg综合征和半咀嚼痉挛同时发生1例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-06-18 eCollection Date: 2026-01-01 DOI: 10.1159/000551986
Pooja Chaurasia, Asharbh Raman, Yugal K Sharma, Aayush Gupta
{"title":"Co-Occurrence of En Coup de Sabre, Parry-Romberg Syndrome, and Hemimasticatory Spasm: A Case Report.","authors":"Pooja Chaurasia, Asharbh Raman, Yugal K Sharma, Aayush Gupta","doi":"10.1159/000551986","DOIUrl":"10.1159/000551986","url":null,"abstract":"<p><strong>Introduction: </strong>En coup de sabre (ECDS) and Parry-Romberg syndrome (PRS) are rare, localised scleroderma subtypes, often considered to be overlapping variants of morphea. Hemimasticatory spasm (HMS), a distinct rare neuromuscular disorder characterised by unilateral paroxysmal contraction of the jaw muscles, has rarely been reported in association with these conditions.</p><p><strong>Case presentation: </strong>A 20-year-old man presented with a linear, cicatricial alopecic patch over the left parietal scalp, along with indurated and bound-down skin over the left cheek. This was followed by progressive depression and asymmetry of the left midface, accompanied by paroxysmal spasms during mastication and swallowing. Examination revealed cicatricial alopecia over the left parietal region and an atrophic plaque over the ipsilateral cheek. The left lower lip and tongue were atrophic, while the ipsilateral masseter muscle was visibly hypertrophied. Histopathological findings of the cheek lesion were consistent with morphea. A clinical diagnosis of co-existing ECDS, PRS, and HMS was made. Botulinum toxin type A was used to treat HMS, with marked reduction in symptoms and improvement in quality of life.</p><p><strong>Conclusion: </strong>This case highlights the rare but meaningful association between ECDS, PRS, and HMS, underscoring the importance of early recognition and multidisciplinary intervention. Botulinum toxin remains a valuable therapeutic option for managing symptomatic HMS in such contexts.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"481-486"},"PeriodicalIF":0.7,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13436937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148672977","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
Hair Shaft Normalization and Hair Growth in SPINK5-Syndromic Epidermal Differentiation Disorder (Netherton Syndrome) while on Treatment with Dupilumab: A Novel Therapeutic Approach for Trichorrhexis Invaginata - A Case Report. Dupilumab治疗时spink5综合征表皮分化障碍(内瑟顿综合征)患者的毛干正常化和毛发生长:一种治疗内阴毛癣的新方法-一个病例报告。
IF 0.7
Case Reports in Dermatology Pub Date : 2026-06-17 eCollection Date: 2026-01-01 DOI: 10.1159/000552918
Adriana Rendon, Niklas Negele, Knut Schäkel
{"title":"Hair Shaft Normalization and Hair Growth in SPINK5-Syndromic Epidermal Differentiation Disorder (Netherton Syndrome) while on Treatment with Dupilumab: A Novel Therapeutic Approach for Trichorrhexis Invaginata - A Case Report.","authors":"Adriana Rendon, Niklas Negele, Knut Schäkel","doi":"10.1159/000552918","DOIUrl":"10.1159/000552918","url":null,"abstract":"<p><strong>Introduction: </strong>SPINK5-syndromic epidermal differentiation disorder (also known as Netherton syndrome [NS]) is a severe chronic genetic disorder characterized by skin inflammation, severe atopy, and trichorrhexis invaginata (TI). Causative <i>SPINK5</i> gene mutations result in defective serine protease inhibitor LEKTI, leading to unopposed serine protease activity and resulting in impaired skin barrier and type 2 inflammation. TI is the result of an intermittent keratinization defect of the hair cortex, a problem without specific treatment available to date.</p><p><strong>Case presentation: </strong>We diagnosed NS in a 67-year-old woman who had severe skin manifestations and a hair-growth defect since childhood. Scalp hair was sparse in the nuchal and temporoparietal regions. Trichoscopy of these areas showed numerous \"bamboo\" hairs that broke off during contact with the dermatoscope. We initiated treatment with dupilumab and optimized the topical therapy. At a 3-month follow-up, improvement of rash, pruritus, and quality of life was reported. Furthermore, the previously brittle short hair was replaced with longer hair and normal hair shafts in the previously affected areas.</p><p><strong>Conclusions: </strong>TI, as part of NS, has a variable presentation, biologics currently treating cutaneous inflammation, but little is known about their effects on hair biology. In this report, we show that dupilumab treatment not only proved efficient for control of skin inflammation and pruritus but was also associated with near-complete resolution of \"bamboo\" hair and promoted hair growth. Especially how alterations in the inflammatory response in NS can be linked to a structural defect have not been addressed in the current literature so far.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"18 1","pages":"475-480"},"PeriodicalIF":0.7,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13427329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148652853","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书