Neurofibromatosis comorbid with Lichen Sclerosus et Atrophicus: A Case Report

Neurofibromatosis comorbid with Lichen Sclerosus et Atrophicus: A Case Report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Neurofibromatosis comorbid with Lichen Sclerosus et Atrophicus: A Case Report Tiantian Bi, Zhiwei Guan, Yan Yang, Qinfeng Li This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7305351/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 12 You are reading this latest preprint version Abstract Background Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. Case presentation This report described a neonatal case with a 9-year-old girl presented with generalized café-au-lait macules (CALMs, >6 lesions exceeding 5 mm diameter) and vulvar porcelain-white atrophic plaques. Conclusions We describe the first reported pediatric case of concurrent NF1 and vulvar Lichen sclerosus et atrophicus. Figures Figure 1 Figure 2 Figure 3 Background Lichen sclerosus et atrophicus (LSA), a chronic inflammatory dermatosis primarily involving the vulvar and perianal regions, is clinically characterized by porcelain-white atrophic plaques, pruritus, and pain. While its etiology remains incompletely understood, proposed mechanisms include autoimmune dysregulation, genetic predisposition, and localized microenvironmental changes [ 1 ] .Neurofibromatosis type 1(NF1), the most common autosomal dominant neurocutaneous disorder, typically presents with café-au-lait macules, neurofibromas, and tumor predisposition.We describe the first reported pediatric case of concurrent NF1 and vulvar LSA,with particular emphasis on the clinical significance and potential pathogenic interplay between these entities. Case presentation A 9-year-old girl presented with generalized café-au-lait macules (CALMs, > 6 lesions exceeding 5 mm diameter) and vulvar porcelain-white atrophic plaques. Born at term to a primigravida mother via combined breastfeeding and formula feeding, she had no history of epilepsy or consanguinity. Family history revealed no neurocutaneous disorders.Cutaneous examination demonstrated: Multiple CALMs (largest 10×6 cm) distributed on the face, trunk, and extremities;Axillary and inguinal freckling (Crowe's sign);Absence of palpable neurofibromas;Ill-defined hypopigmented plaques with epidermal atrophy on vulvar inspection (Fig. 1 ). Brain MRI: Multiple patchy slightly hyperintense T2 lesions in bilateral basal ganglia-thalamic regions, brainstem, and cerebellar hemispheres on T2WI/FLAIR sequences. Lumbosacral MRI: Unremarkable lumbar spinal cord; partial sacral vertebral lamina unfusion with irregular morphology; nodular/beaded T1-isointense and T2-hyperintense lesions in sacral neural foramina, paravertebral regions, and adjacent musculature (suggestive of plexiform neurofibromas). Ocular exam:Two Lisch nodules on the iris. Remaining systemic evaluations unremarkable.Reflectance confocal microscopy (RCM) of vulvar lesions revealed:The epidermis exhibits mild atrophy with loss of the normal undulating architecture of the dermal papillae. The dermoepidermal junction appears indistinct. The dermis demonstrates a dense inflammatory infiltrate composed of moderately to highly refractive cells, accompanied by collagen homogenization and increased collagen density (Fig. 2 a-b).The epidermal and dermal changes in the skin biopsy are consistent with lichen sclerosus (Fig. 2 c).Genetic analysis revealed a de novo NF1 splice-site mutation (c.3113 + 1G > A. Figure 3 ). Based on clinical manifestations, histopathological examination, and genetic testing, the diagnosis of neurofibromatosis complicated by lichen sclerosus was established. A heterozygous splice-site mutation (c.3113 + 1G > A) in intron 23 of the NF1 gene was identified in the proband, leading to aberrant mRNA splicing. No pathogenic variants were detected in either parent. Discussionv Previously reported cutaneous manifestations of neurofibromatosis include lipoma, nevus anemicus, psoriasis, spilus nevus, juvenile xanthogranuloma, vitiligo, Becker's nevus, melanoma, and poliosis [ 2 ] . However, the coexistence of NF1 and LSA is exceedingly rare. In this case, the patient exhibited porcelain-white atrophic plaques localized to the clitoral hood, clitoral frenulum, labia minora, and labial frenulum, with peripheral extension to the perineal body, accompanied by pruritus.RCM is a non-invasive imaging modality that provides high-resolution visualization of epidermal, dermal, and subcutaneous cellular structures, approaching the diagnostic accuracy of conventional histopathology [ 3 ] . LSA demonstrates pathognomonic RCM features correlating strongly with histopathological findings [ 4 ] . RCM examination of this patient revealed key diagnostic features of LSA, including destruction of the dermo-epidermal junction clarity, dense dermal inflammatory infiltrates,collagen homogenization, and interstitial edema.This report further reinforces the evidence that RCM can be used to visualize the main diagnostic features of LSA in children. We recommend RCM as a useful auxiliary tool for diagnosing pediatric cases, though larger-scale case series studies are required. The NF1 gene, responsible for encoding neurofibromin, is the pathogenic driver of NF1. Loss-of-function mutations in this gene result in dysregulated cell proliferation and tumorigenesis. NF1 patients may exhibit T-cell dysfunction and aberrant cytokine secretion, which impair cutaneous and immune system homeostasis, thereby elevating the risk of autoimmune disorders [ 5 , 6 ] . Additionally, NF1 mutations may indirectly promote cutaneous inflammation via immune cell dysregulation. Neurological abnormalities in NF1 patients could further disrupt neuropeptide and neurotransmitter signaling, altering the cutaneous microenvironment [ 7 ] .Notably, while LSA classically originates in the labia majora and spreads centrifugally, this case presented with primary involvement of the clitoral hood and frenulum. Whether this atypical localization reflects NF1-related anatomical or immunological perturbations remains unclear and necessitates further investigation through expanded case series. This case report highlights a rare co-occurrence of NF1 and LSA. Whether this association is coincidental or mechanistically linked through NF1-related neuro-immune-cutaneous axis perturbations—potentially increasing LS susceptibility—remains unclear. Further studies are warranted to elucidate the interplay between NF1-associated neural defects, immune dysregulation, and cutaneous pathology. Abbreviations NF1: Neurofibromatosis Type 1 CALMs :café-au-lait macules LSA :Lichen sclerosus et atrophicus RCM :Reflectance confocal microscopy Declarations Availability of data and materials The datasets used and analysed during the current study are available from the corresponding author upon reasonable request. Ethics declarations Ethics approval and consent to participate The studies involving human participants were reviewed and approved by the Ethics Committee of Tianjin Children's Hospital. Consent for publication The parents of this patient consented to the publication of the case and any accompanying images with written informed consent.The authors provided consent for the publication of this article. Competing interests The authors declare no competing interests. Funding Information None Author Contribution Tiantian Bi, Zhiwei Guan, Yan Yang, contributed equally to this study. References Arif T, Fatima R, Sami M. Extragenital lichen sclerosus: A comprehensive review. Australas J Dermatol. 2022;63(4):452–62. 10.1111/ajd.13890 . Miraglia E, Moliterni E, Iacovino C, et al. Cutaneous manifestations in neurofibromatosis type 1. Clin Ter. 2020;171(5):e371–7. 10.7417/CT.2020.2242 . Kantere D, Neittaanmäki N, Maltese K, et al. Exploring reflectance confocal microscopy as a non-invasive diagnostic tool for genital lichen sclerosus. Exp Ther Med. 2022;23(6):410. 10.3892/etm.2022.11337 . Chen L, Wang Y, Gao X, et al. In vivo evaluation of vulvar lichen sclerosus with reflectance confocal microscopy and therapeutic monitoring in children. Skin Res Technol. 2023;29(1):e13234. 10.1111/srt.13234 . Karmakar S, Reilly KM. The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. CNS Oncol. 2017;6(1):45–60. 10.2217/cns-2016-0024 . Duman R, Duman N, Elmas M, et al. First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis? Clin Dysmorphol. 2016;25(1):31–4. 10.1097/MCD.0000000000000107 . White EE, Rhodes SD. The NF1+/- Immune Microenvironment: Dueling Roles in Neurofibroma Development and Malignant Transformation. Cancers (Basel). 2024;16(5):994. 10.3390/cancers16050994 . Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 27 Apr, 2026 Reviews received at journal 16 Sep, 2025 Reviews received at journal 15 Sep, 2025 Reviews received at journal 14 Sep, 2025 Reviewers agreed at journal 10 Sep, 2025 Reviewers agreed at journal 10 Sep, 2025 Reviewers agreed at journal 03 Sep, 2025 Reviewers invited by journal 03 Sep, 2025 Editor invited by journal 11 Aug, 2025 Editor assigned by journal 11 Aug, 2025 Submission checks completed at journal 11 Aug, 2025 First submitted to journal 05 Aug, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-7305351","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":511814504,"identity":"738a43d7-572e-403a-9e88-7841924459ec","order_by":0,"name":"Tiantian Bi","email":"","orcid":"","institution":"Tianjin Children's Hospital","correspondingAuthor":false,"prefix":"","firstName":"Tiantian","middleName":"","lastName":"Bi","suffix":""},{"id":511814505,"identity":"b7afade0-994a-46db-b13a-13ddc2b12b38","order_by":1,"name":"Zhiwei Guan","email":"","orcid":"","institution":"Tianjin Children's Hospital","correspondingAuthor":false,"prefix":"","firstName":"Zhiwei","middleName":"","lastName":"Guan","suffix":""},{"id":511814506,"identity":"24efbd41-e6e2-4b8e-b4cf-19b1e1810e4a","order_by":2,"name":"Yan Yang","email":"","orcid":"","institution":"Tianjin Children's Hospital","correspondingAuthor":false,"prefix":"","firstName":"Yan","middleName":"","lastName":"Yang","suffix":""},{"id":511814507,"identity":"e02b114c-db58-4bf7-88b6-099da94fc72c","order_by":3,"name":"Qinfeng Li","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAxElEQVRIiWNgGAWjYBACAyA+8KHCRo6Nvf0A0VoYH844k2bMx3MmgWgtzMacbYcT50k4GBCnxZz/+DVpBra09DYJhgSGHxXbCGuxbDhTJl3AY5PbJt14gLHnzG0iHHawJ016hkRabpvMgQRmxjZitBzmSZPmMTicziaRYECklmPsh415Eg4nEK/FsocHGMgH0gzbgIF8kCi/AEPswYGP/2zk5dvbDz74UUGEFgYGHkR0HCBGPRCwPyBS4SgYBaNgFIxYAAAlyT5e2xMDIwAAAABJRU5ErkJggg==","orcid":"","institution":"Tianjin Children's Hospital","correspondingAuthor":true,"prefix":"","firstName":"Qinfeng","middleName":"","lastName":"Li","suffix":""}],"badges":[],"createdAt":"2025-08-06 03:53:23","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-7305351/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-7305351/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":91072072,"identity":"6509236b-64a9-489e-a925-912c17c1b988","added_by":"auto","created_at":"2025-09-11 10:53:49","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":55985,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eCutaneous manifestaion. \u003c/strong\u003e(a)Multiple café-au-lait macules and freckles on the trunk.(b)Café-au-lait macules and freckles on the thigh and perianal region; porcelain-white atrophic plaques involving the clitoral hood, clitoral frenulum, labia minora, labial frenulum, and perineum, with a wrinkled surface and poorly defined borders.\u003c/p\u003e","description":"","filename":"1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-7305351/v1/b7ebc8a1d9ae702b70eb5c6b.jpg"},{"id":91070646,"identity":"be1c8cde-9840-4d70-a80b-4e6ca88e730b","added_by":"auto","created_at":"2025-09-11 10:45:49","extension":"jpg","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":161636,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eReflective confocal microscope image and Histopathological findings.\u003c/strong\u003e (a)The epidermis shows mild atrophy with effacement of the normal undulating dermal papillae architecture. The dermo-epidermal junction is indistinct, accompanied by a dense mononuclear inflammatory infiltrate in the dermis.(b):The dermis exhibits a polymorphic inflammatory infiltrate composed of variably sized refractile cells, accompanied by thickened sclerotic collagen bundles demonstrating homogenization with intervening hyporefractile cleft-like spaces.(c)The epidermis is atrophic and thinned, with complete loss of rete ridges. Liquefactive degeneration is observed in the basal cells. Collagen fibers in the superficial dermis show edema, sclerosis, and homogenized pale staining. A large number of inflammatory cells, predominantly lymphocytes and histiocytes, exhibit band-like infiltration in the middle and lower dermis.\u003c/p\u003e","description":"","filename":"2.jpg","url":"https://assets-eu.researchsquare.com/files/rs-7305351/v1/01b62b348074db9fd9d72c80.jpg"},{"id":91072074,"identity":"0838e3d1-24f0-43f1-80f4-b9c669c8e991","added_by":"auto","created_at":"2025-09-11 10:53:49","extension":"jpg","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":77099,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eGenetic result.\u003c/strong\u003e (a) Proband; (b) Proband’s father; (c) Proband’s mother.\u003c/p\u003e\n\u003cp\u003eA heterozygous splice-site mutation (c.3113+1G\u0026gt;A) in intron 23 of the NF1 gene was identified in the proband, leading to aberrant mRNA splicing. No pathogenic variants were detected in either parent.\u003c/p\u003e","description":"","filename":"3.jpg","url":"https://assets-eu.researchsquare.com/files/rs-7305351/v1/dfa1f6d672b4e452d1731ad5.jpg"},{"id":91073996,"identity":"5112e0bc-b503-4812-9a4b-b3f22d0c8e4b","added_by":"auto","created_at":"2025-09-11 11:01:54","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":647765,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7305351/v1/96accee9-a09c-4148-8c04-abdf3ed160bd.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Neurofibromatosis comorbid with Lichen Sclerosus et Atrophicus: A Case Report","fulltext":[{"header":"Background","content":"\u003cp\u003eLichen sclerosus et atrophicus (LSA), a chronic inflammatory dermatosis primarily involving the vulvar and perianal regions, is clinically characterized by porcelain-white atrophic plaques, pruritus, and pain. While its etiology remains incompletely understood, proposed mechanisms include autoimmune dysregulation, genetic predisposition, and localized microenvironmental changes\u003csup\u003e[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]\u003c/sup\u003e.Neurofibromatosis type 1(NF1), the most common autosomal dominant neurocutaneous disorder, typically presents with caf\u0026eacute;-au-lait macules, neurofibromas, and tumor predisposition.We describe the first reported pediatric case of concurrent NF1 and vulvar LSA,with particular emphasis on the clinical significance and potential pathogenic interplay between these entities.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA 9-year-old girl presented with generalized caf\u0026eacute;-au-lait macules (CALMs, \u0026gt;\u0026thinsp;6 lesions exceeding 5 mm diameter) and vulvar porcelain-white atrophic plaques. Born at term to a primigravida mother via combined breastfeeding and formula feeding, she had no history of epilepsy or consanguinity. Family history revealed no neurocutaneous disorders.Cutaneous examination demonstrated:\u003c/p\u003e\u003cp\u003eMultiple CALMs (largest 10\u0026times;6 cm) distributed on the face, trunk, and extremities;Axillary and inguinal freckling (Crowe's sign);Absence of palpable neurofibromas;Ill-defined hypopigmented plaques with epidermal atrophy on vulvar inspection (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). Brain MRI: Multiple patchy slightly hyperintense T2 lesions in bilateral basal ganglia-thalamic regions, brainstem, and cerebellar hemispheres on T2WI/FLAIR sequences. Lumbosacral MRI: Unremarkable lumbar spinal cord; partial sacral vertebral lamina unfusion with irregular morphology; nodular/beaded T1-isointense and T2-hyperintense lesions in sacral neural foramina, paravertebral regions, and adjacent musculature (suggestive of plexiform neurofibromas). Ocular exam:Two Lisch nodules on the iris. Remaining systemic evaluations unremarkable.Reflectance confocal microscopy (RCM) of vulvar lesions revealed:The epidermis exhibits mild atrophy with loss of the normal undulating architecture of the dermal papillae. The dermoepidermal junction appears indistinct. The dermis demonstrates a dense inflammatory infiltrate composed of moderately to highly refractive cells, accompanied by collagen homogenization and increased collagen density (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003ea-b).The epidermal and dermal changes in the skin biopsy are consistent with lichen sclerosus (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003ec).Genetic analysis revealed a de novo NF1 splice-site mutation (c.3113\u0026thinsp;+\u0026thinsp;1G\u0026thinsp;\u0026gt;\u0026thinsp;A. Figure\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e). Based on clinical manifestations, histopathological examination, and genetic testing, the diagnosis of neurofibromatosis complicated by lichen sclerosus was established.\u003c/p\u003e\u003cp\u003eA heterozygous splice-site mutation (c.3113\u0026thinsp;+\u0026thinsp;1G\u0026thinsp;\u0026gt;\u0026thinsp;A) in intron 23 of the NF1 gene was identified in the proband, leading to aberrant mRNA splicing. No pathogenic variants were detected in either parent.\u003c/p\u003e"},{"header":"Discussionv","content":"\u003cp\u003ePreviously reported cutaneous manifestations of neurofibromatosis include lipoma, nevus anemicus, psoriasis, spilus nevus, juvenile xanthogranuloma, vitiligo, Becker's nevus, melanoma, and poliosis\u003csup\u003e[\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]\u003c/sup\u003e. However, the coexistence of NF1 and LSA is exceedingly rare.\u003c/p\u003e\u003cp\u003eIn this case, the patient exhibited porcelain-white atrophic plaques localized to the clitoral hood, clitoral frenulum, labia minora, and labial frenulum, with peripheral extension to the perineal body, accompanied by pruritus.RCM is a non-invasive imaging modality that provides high-resolution visualization of epidermal, dermal, and subcutaneous cellular structures, approaching the diagnostic accuracy of conventional histopathology\u003csup\u003e[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]\u003c/sup\u003e. LSA demonstrates pathognomonic RCM features correlating strongly with histopathological findings\u003csup\u003e[\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e]\u003c/sup\u003e. RCM examination of this patient revealed key diagnostic features of LSA, including destruction of the dermo-epidermal junction clarity, dense dermal inflammatory infiltrates,collagen homogenization, and interstitial edema.This report further reinforces the evidence that RCM can be used to visualize the main diagnostic features of LSA in children. We recommend RCM as a useful auxiliary tool for diagnosing pediatric cases, though larger-scale case series studies are required.\u003c/p\u003e\u003cp\u003eThe NF1 gene, responsible for encoding neurofibromin, is the pathogenic driver of NF1. Loss-of-function mutations in this gene result in dysregulated cell proliferation and tumorigenesis. NF1 patients may exhibit T-cell dysfunction and aberrant cytokine secretion, which impair cutaneous and immune system homeostasis, thereby elevating the risk of autoimmune disorders \u003csup\u003e[\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e, \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]\u003c/sup\u003e. Additionally, NF1 mutations may indirectly promote cutaneous inflammation via immune cell dysregulation. Neurological abnormalities in NF1 patients could further disrupt neuropeptide and neurotransmitter signaling, altering the cutaneous microenvironment\u003csup\u003e[\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]\u003c/sup\u003e.Notably, while LSA classically originates in the labia majora and spreads centrifugally, this case presented with primary involvement of the clitoral hood and frenulum. Whether this atypical localization reflects NF1-related anatomical or immunological perturbations remains unclear and necessitates further investigation through expanded case series.\u003c/p\u003e\u003cp\u003eThis case report highlights a rare co-occurrence of NF1 and LSA. Whether this association is coincidental or mechanistically linked through NF1-related neuro-immune-cutaneous axis perturbations\u0026mdash;potentially increasing LS susceptibility\u0026mdash;remains unclear. Further studies are warranted to elucidate the interplay between NF1-associated neural defects, immune dysregulation, and cutaneous pathology.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003e\u003cstrong\u003eNF1:\u003c/strong\u003eNeurofibromatosis Type 1\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCALMs\u003c/strong\u003e:caf\u0026eacute;-au-lait macules\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eLSA\u003c/strong\u003e:Lichen sclerosus et atrophicus\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eRCM\u003c/strong\u003e:Reflectance confocal microscopy\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe datasets used and analysed during the current study are available from the corresponding author upon reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics declarations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eEthics approval and consent to participate\u003c/p\u003e\n\u003cp\u003eThe studies involving human participants were reviewed and approved by the Ethics Committee of Tianjin Children\u0026apos;s Hospital.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe parents of this patient consented to the publication of the case and any accompanying images with written informed consent.The authors provided consent for the publication of this article.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding Information\u003c/strong\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eNone\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eTiantian Bi, Zhiwei Guan, Yan Yang, contributed equally to this study.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eArif T, Fatima R, Sami M. Extragenital lichen sclerosus: A comprehensive review. Australas J Dermatol. 2022;63(4):452\u0026ndash;62. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1111/ajd.13890\u003c/span\u003e\u003cspan address=\"10.1111/ajd.13890\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eMiraglia E, Moliterni E, Iacovino C, et al. Cutaneous manifestations in neurofibromatosis type 1. Clin Ter. 2020;171(5):e371\u0026ndash;7. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.7417/CT.2020.2242\u003c/span\u003e\u003cspan address=\"10.7417/CT.2020.2242\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eKantere D, Neittaanm\u0026auml;ki N, Maltese K, et al. Exploring reflectance confocal microscopy as a non-invasive diagnostic tool for genital lichen sclerosus. Exp Ther Med. 2022;23(6):410. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.3892/etm.2022.11337\u003c/span\u003e\u003cspan address=\"10.3892/etm.2022.11337\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eChen L, Wang Y, Gao X, et al. In vivo evaluation of vulvar lichen sclerosus with reflectance confocal microscopy and therapeutic monitoring in children. Skin Res Technol. 2023;29(1):e13234. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1111/srt.13234\u003c/span\u003e\u003cspan address=\"10.1111/srt.13234\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eKarmakar S, Reilly KM. The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. 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Cancers (Basel). 2024;16(5):994. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.3390/cancers16050994\u003c/span\u003e\u003cspan address=\"10.3390/cancers16050994\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-pediatrics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bped","sideBox":"Learn more about [BMC Pediatrics](http://bmcpediatr.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bped/default.aspx","title":"BMC Pediatrics","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"","lastPublishedDoi":"10.21203/rs.3.rs-7305351/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7305351/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eBackground\u003c/p\u003e\n\u003cp\u003eNeurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system.\u003c/p\u003e\n\u003cp\u003eCase presentation\u003c/p\u003e\n\u003cp\u003eThis report described a neonatal case with a 9-year-old girl presented with generalized café-au-lait macules (CALMs, \u0026gt;6 lesions exceeding 5 mm diameter) and vulvar porcelain-white atrophic plaques.\u003c/p\u003e\n\u003cp\u003eConclusions\u003c/p\u003e\n\u003cp\u003eWe describe the first reported pediatric case of concurrent NF1 and vulvar Lichen sclerosus et atrophicus.\u003c/p\u003e","manuscriptTitle":"Neurofibromatosis comorbid with Lichen Sclerosus et Atrophicus: A Case Report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-09-11 10:45:44","doi":"10.21203/rs.3.rs-7305351/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision 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