Schimmelpenning-Feuerstein-Mims Syndrome (SFM)

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GARD: ¹⁹ Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS). The nevus usually is located on the face, scalp, or neck. The most common CNS abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). Various other CNS abnormalities have been reported. Other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. LNSS is not inherited (it is sporadic). It can be caused by a somatic genetic change in any of several genes. Genetic changes that cause LNSS occur after fertilization and are only present in some body cells (mosaicism).

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, also known as nevus sebaceus of jadassohn, is related to melanocytic nevus syndrome, congenital and ras-associated autoimmune leukoproliferative disorder, and has symptoms including seizures An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are ERK Signaling and Disease. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and seizure

OMIM®: ⁵⁷ Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). (163200) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

Disease Ontology: ¹¹ A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has material basis in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.

Orphanet: ⁵⁸ A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.

Wikipedia ⁷⁵ Nevus sebaceus of jadassohn: Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in... more...

Schimmelpenning syndrome: Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi,... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Schimmelpenning-Feuerstein-Mims Syndrome