ArticleMedicine2017
Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Schimmelpenning-Feuerstein-Mims syndrome: a systematic review of clinical cases to identify genotype-phenotype associations.Frontiers in medicine · 2025Pooled it
- Cancer in Multilineage Mosaic RASopathies due to Pathogenic Variants in HRAS or KRAS: A Systematic Review and Meta-analysis.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Pooled it
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- A Giant Nevus Sebaceous Lesion in an 18 Year-Old Male: A Case Report.World journal of plastic surgery · 2024Article
- Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.JCI insight · 2023Article
- Infant with Parotid Sialoblastoma and Nevus Sebaceous, Treated with Surgery and Adjuvant Chemotherapy.Children (Basel, Switzerland) · 2023Article
- Case Report: Leathery black plaque on the temple and scalp.F1000Research · 2023Article
- Defining the spatial landscape of KRAS mutated congenital pulmonary airway malformations: a distinct entity with a spectrum of histopathologic features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Identification of a recurrent mosaicCold Spring Harbor molecular case studies · 2021Article
- Renal Involvement in Linear Nevus Sebaceous Syndrome-An Underrecognized Feature.Pediatric reports · 2021Article
- Nevus sebaceus of Jadassohn - high frequency ultrasound imaging and videodermoscopy examination. Case presentation.Medicine and pharmacy reports · 2021Article
- Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.BMC medical genomics · 2020Article
- Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.Molecular genetics & genomic medicine · 2019Article
- Sebaceous nevus of Jadassohn: review and clinical-surgical approach.Anais brasileiros de dermatologiaReview
- Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.In vivo (Athens, Greece)Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleLinear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs. DIAGNOSIS: Cervical ultrasonography revealed a 4.6 × 4.6 × 2.2cm no echo packet with clear boundary in the subcutaneous tissues of the right neck. The neck MRI indicated a cyst in the subcutaneous tissues of the right neck. Whole-exome sequencing revealed a low-level heterozygous mutation of the KRAS gene (c.35C > T; p.G12D, 19%) in the skin lesion sample. This mutation was not present in the blood samples of the patient and her parents.
interventionsThe patient received sclerotherapy with paicibanil (OK-432) injection for the cyst. OUTCOMES: Following 1 year of treatment, the patient exhibited fewer seizures. The mental and motor development was significantly improved. The patient can currently walk with assistance and speak simple words. LESSONS: LNSS is a rare, congenital neurocutaneous syndrome consisting of a spectrum of abnormalities involving the skin, central nervous system, eyes, LMs and other systems. LNSS can be caused by postzygotic somatic mutation in the RAS family of genes. Multidisciplinary evaluation and treatment is needed.
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