Schimmelpenning‐Feuerstein‐Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review

Author:

Ono Hiroto1,Yamaguchi Reimon1ORCID,Arai Minako2,Togi Sumihito3,Ura Hiroki3,Niida Yo3,Shimizu Akira1ORCID

Affiliation:

1. Department of Dermatology Kanazawa Medical University Uchinada Japan

2. Arai Dermatology Clinic Nanao Japan

3. Center for Clinical Genomics Kanazawa Medical University Uchinada Japan

Abstract

AbstractSchimmelpenning‐Feuerstein‐Mims syndrome (SFMS), an epidermal nevus disease, features skin lesions including craniofacial nevus sebaceous and extracutaneous anomalies (e.g. brain, eye, and bone). Recent genetic studies implicate HRAS, KRAS, and NRAS genes in somatic mutations. Our case, a 48‐year‐old man, presented with nevus sebaceous on the scalp; pigmented skin lesions on the right side of his neck, back, and chest along the Blaschko lines; a history of epilepsy; and mild intellectual disability. Accordingly, SFMS was suspected. DNA analysis of nevus sebaceous skin and peripheral blood leukocytes showed a pathogenic HRAS variant NM_005343.4:c.34G > A p.(Gly12Ser) in biopsy specimens from different skin layers but not blood, indicating somatic mosaic mutation. Until now, the HRAS p.(Gly12Ser) mutation has been reported in somatic RASopathies but not SFMS. The authors report this mutation in a case of SFMS, review another 15 cases of SFMS, and discuss HRAS c.34G > A p.(Gly12Ser) somatic mutations. RAS mutations of somatic RASopathies share activating hotspot mutations found in cancers, and produce different phenotypes depending on the developmental stage at which the somatic mutations occur.

Publisher

Wiley

Subject

Dermatology,General Medicine

Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Einseitige faziale verruköse Hautveränderungen und Amaurose bei einem Säugling;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-08

2. Unilateral verrucous facial skin lesions and amourosis in an infant;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-06-21

3. Sebaceous naevus syndrome with multisystemic manifestations;Archives of Disease in Childhood - Fetal and Neonatal Edition;2024-06-20

4. Mosaic RASopathies concept: different skin lesions, same systemic manifestations?;Journal of Medical Genetics;2024-01-30

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