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Linear nevus sebaceous syndrome(JNP; SFM)

MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
Synonyms: Jadassohn nevus phakomatosis; Linear nevus sebaceous; Linear sebaceous nevus sequence; Nevus sebaceus of Jadassohn; Nevus, Sebaceous of Jadassohn; Organoid nevus phakomatosis; SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC; Sebaceous nevus syndrome and hemimegalencephaly; SFM syndrome
SNOMED CT: Linear sebaceous nevus (52298009); Schimmelpeming Feuerstein Mims syndrome (239112008); Nevus sebaceous of Jadassohn (707136009); Epidermal nevus syndrome (239112008); Linear sebaceous nevus sequence (52298009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): HRAS (11p15.5); KRAS (12p12.1); NRAS (1p13.2)
 
HPO: HP:0010817
Monarch Initiative: MONDO:0008097
OMIM®: 163200
Orphanet: ORPHA2612

Definition

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). [from OMIM]

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Skin basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Hyperphosphaturia
MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
An increased excretion of phosphates in the urine.
Abnormal finger morphology
MedGen UID:
436247
Concept ID:
C2674737
Finding
An anomaly of a finger.
Abnormal toe morphology
MedGen UID:
390611
Concept ID:
C2674738
Finding
An anomaly of a toe.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Overgrowth of only one side of the body.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hemimegalencephaly
MedGen UID:
140910
Concept ID:
C0431391
Finding
Enlargement of all or parts of one cerebral hemisphere.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Hypophosphatemic rickets
MedGen UID:
309957
Concept ID:
C1704375
Disease or Syndrome
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Cranial asymmetry
MedGen UID:
348059
Concept ID:
C1860245
Finding
Asymmetry of the bones of the skull.
Abnormality of dental color
MedGen UID:
869132
Concept ID:
C4023551
Finding
A developmental defect of tooth color.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Nevus
MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Nevus sebaceous
MedGen UID:
840896
Concept ID:
C3854181
Neoplastic Process
A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.
Linear nevus sebaceous syndrome
MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
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).
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Congenital ocular coloboma
MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLinear nevus sebaceous syndrome

Conditions with this feature

Aortic arch interruption, facial palsy, and retinal coloboma
MedGen UID:
350733
Concept ID:
C1862681
Disease or Syndrome
Linear nevus sebaceous syndrome
MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
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).

Professional guidelines

PubMed

Flores-Sarnat L, Sarnat HB
Handb Clin Neurol 2015;132:9-25. doi: 10.1016/B978-0-444-62702-5.00002-0. PMID: 26564069

Recent clinical studies

Etiology

Saini L, Mukherjee S, Gunasekaran PK, Malhi P, Saini AG, De D, Padhy S, Ahuja C, Suthar R, Sahu JK, Sankhyan N, Yadav J, Sharawat IK
J Child Neurol 2022 Oct;37(10-11):864-870. Epub 2022 Aug 2 doi: 10.1177/08830738221114560. PMID: 35918819
Menascu S, Donner EJ
Pediatr Neurol 2008 Mar;38(3):207-10. doi: 10.1016/j.pediatrneurol.2007.10.012. PMID: 18279757
Brown KE, Goldstein SM, Douglas RS, Katowitz JA
J AAPOS 2003 Apr;7(2):148-9. doi: 10.1016/mpa.2003.S1091853103000120. PMID: 12736631
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr
Ophthalmology 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. PMID: 9709758
Muhle C, Brinkmann G, Muhle K, Heller M
Eur Radiol 1998;8(4):606-8. doi: 10.1007/s003300050444. PMID: 9569332

Diagnosis

Pan C, Zhou X, Hong A, Fang F, Wang Y
BMC Med Genomics 2020 Dec 12;13(1):188. doi: 10.1186/s12920-020-00847-1. PMID: 33308209Free PMC Article
Echegaray JJ, Chen R, Bellerive C, Singh AD
Ophthalmic Genet 2018 Apr;39(2):278-281. Epub 2018 Jan 15 doi: 10.1080/13816810.2017.1418390. PMID: 29333905
Trivedi N, Nehete G
Indian J Ophthalmol 2016 Sep;64(9):692-694. doi: 10.4103/0301-4738.99849. PMID: 27853026Free PMC Article
Kausar A, Zafar SN, Altaf S, Khan A
J Coll Physicians Surg Pak 2015 Mar;25(3):220-2. PMID: 25772967
Menascu S, Donner EJ
Pediatr Neurol 2008 Mar;38(3):207-10. doi: 10.1016/j.pediatrneurol.2007.10.012. PMID: 18279757

Therapy

Echegaray JJ, Chen R, Bellerive C, Singh AD
Ophthalmic Genet 2018 Apr;39(2):278-281. Epub 2018 Jan 15 doi: 10.1080/13816810.2017.1418390. PMID: 29333905
Lihua J, Feng G, Shanshan M, Jialu X, Kewen J
Medicine (Baltimore) 2017 Nov;96(47):e8016. doi: 10.1097/MD.0000000000008016. PMID: 29381910Free PMC Article
Sato T, Muroya K, Asakura Y, Yachie A, Nishimura G, Aida N, Machida J, Tanaka Y, Hasegawa T, Adachi M
Am J Med Genet A 2015 Oct;167A(10):2430-4. Epub 2015 Jun 8 doi: 10.1002/ajmg.a.37193. PMID: 26059403
Narazaki R, Ihara K, Namba N, Matsuzaki H, Ozono K, Hara T
Pediatr Nephrol 2012 May;27(5):861-3. Epub 2011 Dec 29 doi: 10.1007/s00467-011-2086-4. PMID: 22205508
Hoffman WH, Jueppner HW, Deyoung BR, O'dorisio MS, Given KS
Am J Med Genet A 2005 Apr 30;134(3):233-6. doi: 10.1002/ajmg.a.30599. PMID: 15742370

Prognosis

Echegaray JJ, Yeaney G, Chen R, Bellerive C, Singh AD
Ophthalmic Genet 2018 Oct;39(5):666-667. Epub 2018 Jul 10 doi: 10.1080/13816810.2018.1490962. PMID: 29989474
Sato T, Muroya K, Asakura Y, Yachie A, Nishimura G, Aida N, Machida J, Tanaka Y, Hasegawa T, Adachi M
Am J Med Genet A 2015 Oct;167A(10):2430-4. Epub 2015 Jun 8 doi: 10.1002/ajmg.a.37193. PMID: 26059403
Menascu S, Donner EJ
Pediatr Neurol 2008 Mar;38(3):207-10. doi: 10.1016/j.pediatrneurol.2007.10.012. PMID: 18279757
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr
Ophthalmology 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. PMID: 9709758
Muhle C, Brinkmann G, Muhle K, Heller M
Eur Radiol 1998;8(4):606-8. doi: 10.1007/s003300050444. PMID: 9569332

Clinical prediction guides

Kim YE, Kim YS, Lee HE, So KH, Choe Y, Suh BC, Kim JH, Park SK, Mathern GW, Gleeson JG, Rah JC, Baek ST
Cell Rep 2023 Jan 31;42(1):112003. Epub 2023 Jan 14 doi: 10.1016/j.celrep.2023.112003. PMID: 36641749
Saini L, Mukherjee S, Gunasekaran PK, Malhi P, Saini AG, De D, Padhy S, Ahuja C, Suthar R, Sahu JK, Sankhyan N, Yadav J, Sharawat IK
J Child Neurol 2022 Oct;37(10-11):864-870. Epub 2022 Aug 2 doi: 10.1177/08830738221114560. PMID: 35918819
Ozkiriş A, Evereklioglu C, Kula M, Somdaş M, Erkiliç K, Coşkun A
Ann Nucl Med 2003 Dec;17(8):703-6. doi: 10.1007/BF02984979. PMID: 14971616
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr
Ophthalmology 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. PMID: 9709758
Reichart PA, Lubach D, Becker J
Int J Oral Surg 1983 Dec;12(6):437-43. doi: 10.1016/s0300-9785(83)80035-0. PMID: 6425234

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