Abstract:
RATIONALE:Linear 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. INTERVENTIONS:The 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.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Lihua J,Feng G,Shanshan M,Jialu X,Kewen Jdoi
10.1097/MD.0000000000008016subject
Has Abstractpub_date
2017-11-01 00:00:00pages
e8016issue
47eissn
0025-7974issn
1536-5964pii
00005792-201711270-00001journal_volume
96pub_type
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