Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report
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CASE REPORT
Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report Chun Pan†, Xiaowei Zhou†, Anlan Hong, Fang Fang and Yan Wang*
Abstract Background: Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient. Case presentation: A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient: KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients. Conclusions: Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients. Keywords: Linear nevus sebaceous syndrome, Schimmelpenning syndrome, Mutation, KRAS, PRKRIR, RRP7A Background Linear nevus sebaceus syndrome (LNSS), also known as Schimmelpenning Syndrome, is a rare multisystem disorder with a spectrum of anomalies, including central nervous system, ocular, skeletal and cardiovascular defects [1]. Nevus sebaceous, a hallmark of LNSS, occurs in 0.1–0.3% newborns [2–4]. Clinically, LNSS is characterized by hairless, yellow–orange plaques of varying sizes *Correspondence: [email protected] † Chun Pan and Xiaowei Zhou have contributed equally to this manuscript Department of Dermatologic Surgery, Hospital for Skin Diseases (Institute of Dermatology), Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, Jiangsu, China
and shapes, and is most frequently located in areas with abundant sebaceous glands. Epidermal and skin adnexal changes, including acanthosis, sebaceous gland hyperplasia and ectopic apocrine glands, are also common [5, 6]. Familial cases of both LNSS and nevus sebaceous have been reported. Para-dominant inheritance was initially thought to be responsible for the familial aggregation, but has been disputed [7]. Some scholars speculate that both LNSS and nevus sebaceo
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