Ann Lab Med.  2015 Jan;35(1):178-180. 10.3343/alm.2015.35.1.178.

Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

• Kim SW
• Song JS
• Kang MS
• Sin JB
• Ki CS
• Jeon GW

• KMID: 2363174
• DOI: http://doi.org/10.3343/alm.2015.35.1.178

Abstract

No abstract available.

MeSH Terms

Base Sequence
Child, Preschool
DNA/chemistry/metabolism
Female
Humans
Mutation
Nevus, Pigmented/diagnosis/*genetics
Polymorphism, Single Nucleotide
Proto-Oncogene Proteins p21(ras)/*genetics
Republic of Korea
Skin/pathology
Skin Neoplasms/diagnosis/*genetics
Syndrome
DNA
Proto-Oncogene Proteins p21(ras)

Figure

• 

  Fig. 1 Clinical features of nevus sebaceus. (A) Well-demarcated slippery, skin-colored, orange-peel like, linear plaque on the patient's left parietal scalp and face. (B) Round plaque on the patient's occipital scalp, showing alopecia. (C) A limbal dermoid with a skin-colored pedunculated papule on the left eyelid.

• 

  Fig. 2 Pathology of nevus sebaceus showing proliferative changes of sebaceous glands and apocrine glands in the epidermis (H&E, ×100).

• 

  Fig. 3 The KRAS mutation (c.35G>A; p.Gly12Asp) was identified in genomic DNA isolated from the nevus sebaceus lesion (arrows), but not from adjacent normal skin tissue or peripheral blood leukocytes.

Reference

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