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Dermal sinus tract

MedGen UID:
1815047
Concept ID:
C5706141
Congenital Abnormality
HPO: HP:0020223

Definition

A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region. [from HPO]

Conditions with this feature

Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Craniofacial microsomia 2
MedGen UID:
1830923
Concept ID:
C5781610
Congenital Abnormality
Most patients with craniofacial microsomia-2 (CFM2) exhibit isolated unilateral or bilateral grade III microtia, with or without aural atresia, although some patients exhibit only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed (Quiat et al., 2023; Mao et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of craniofacial microsomia, see CFM1 (164210).

Professional guidelines

PubMed

Le HK, Cardona-Grau D, Chiang G
Neoreviews 2019 Dec;20(12):e711-e724. doi: 10.1542/neo.20-12-e711. PMID: 31792158
Hamzavi IH, Griffith JL, Riyaz F, Hessam S, Bechara FG
J Am Acad Dermatol 2015 Nov;73(5 Suppl 1):S78-81. doi: 10.1016/j.jaad.2015.07.050. PMID: 26470622
Hughes R, Kelly G, Sweeny C, Lally A, Kirby B
Am J Clin Dermatol 2015 Apr;16(2):111-23. doi: 10.1007/s40257-015-0118-8. PMID: 25708371

Recent clinical studies

Etiology

Gezer B, Karabagli H, Koktekir E, Sahinoglu M, Karabagli P
Turk Neurosurg 2020;30(4):573-576. doi: 10.5137/1019-5149.JTN.27692-19.6. PMID: 32530476
Barkley AS, Susarla SM, Lee A
World Neurosurg 2019 Jul;127:350-353. Epub 2019 Mar 28 doi: 10.1016/j.wneu.2019.03.222. PMID: 30930322
Tisdall MM, Hayward RD, Thompson DN
J Neurosurg Pediatr 2015 Jun;15(6):651-6. Epub 2015 Mar 13 doi: 10.3171/2014.11.PEDS14341. PMID: 26030333
Martínez-Lage JF, Almagro MJ, Ferri-Ñiguez B, Izura Azanza V, Serrano C, Domenech E
Childs Nerv Syst 2011 Apr;27(4):609-16. Epub 2010 Oct 27 doi: 10.1007/s00381-010-1308-6. PMID: 20978770
Radmanesh F, Nejat F, El Khashab M
Childs Nerv Syst 2010 Mar;26(3):349-57. Epub 2009 Aug 7 doi: 10.1007/s00381-009-0962-z. PMID: 19662426

Diagnosis

Vokshoor A, Jajj H, Grunwald T, Kolker S, Petros J
Spinal Cord Ser Cases 2023 Aug 2;9(1):40. doi: 10.1038/s41394-023-00575-5. PMID: 37532714Free PMC Article
Porat D, Finkel L, Eilbert W
Am J Emerg Med 2021 Nov;49:206-208. Epub 2021 Jun 12 doi: 10.1016/j.ajem.2021.06.016. PMID: 34144262
Gezer B, Karabagli H, Koktekir E, Sahinoglu M, Karabagli P
Turk Neurosurg 2020;30(4):573-576. doi: 10.5137/1019-5149.JTN.27692-19.6. PMID: 32530476
Prolo LM, Grant GA
J Pediatr 2018 Feb;193:276. Epub 2017 Nov 22 doi: 10.1016/j.jpeds.2017.10.049. PMID: 29174077
Tisdall MM, Hayward RD, Thompson DN
J Neurosurg Pediatr 2015 Jun;15(6):651-6. Epub 2015 Mar 13 doi: 10.3171/2014.11.PEDS14341. PMID: 26030333

Therapy

Vankipuram S, Sahoo SK, Srivastava C, Ojha BK
BMJ Case Rep 2017 Dec 20;2017 doi: 10.1136/bcr-2017-222366. PMID: 29269365Free PMC Article
Karremann M, Lange B, Zahn K, Neumaier-Probst E, Kunze SC, Lettgen B, Tenenbaum T
Klin Padiatr 2010 Dec;222(7):467-8. Epub 2010 Mar 18 doi: 10.1055/s-0030-1249063. PMID: 20301052
Selden NR, Nixon RR, Skoog SR, Lashley DB
J Neurosurg 2006 Sep;105(3 Suppl):214-8. doi: 10.3171/ped.2006.105.3.214. PMID: 16970235
Brook I
Pediatr Neurol 2002 Feb;26(2):99-105. doi: 10.1016/s0887-8994(01)00330-7. PMID: 11897473
Xenos C, Sgouros S, Walsh R, Hockley A
Pediatr Neurosurg 2000 Jun;32(6):295-307. doi: 10.1159/000028958. PMID: 10971191

Prognosis

Gezer B, Karabagli H, Koktekir E, Sahinoglu M, Karabagli P
Turk Neurosurg 2020;30(4):573-576. doi: 10.5137/1019-5149.JTN.27692-19.6. PMID: 32530476
Albert GW
Acta Paediatr 2016 Aug;105(8):890-4. Epub 2016 Apr 24 doi: 10.1111/apa.13422. PMID: 27059606
Tisdall MM, Hayward RD, Thompson DN
J Neurosurg Pediatr 2015 Jun;15(6):651-6. Epub 2015 Mar 13 doi: 10.3171/2014.11.PEDS14341. PMID: 26030333
De Vloo P, Lagae L, Sciot R, Demaerel P, van Loon J, Van Calenbergh F
Eur J Paediatr Neurol 2013 Nov;17(6):575-84. Epub 2013 May 24 doi: 10.1016/j.ejpn.2013.04.003. PMID: 23711910
Coumans JV, Walcott BP, Redjal N, Kahle KT, Nahed BV
J Clin Neurosci 2011 Apr;18(4):554-8. Epub 2011 Feb 12 doi: 10.1016/j.jocn.2010.11.008. PMID: 21316971

Clinical prediction guides

Gezer B, Karabagli H, Koktekir E, Sahinoglu M, Karabagli P
Turk Neurosurg 2020;30(4):573-576. doi: 10.5137/1019-5149.JTN.27692-19.6. PMID: 32530476
Eibach S, Moes G, Zovickian J, Pang D
Childs Nerv Syst 2017 Jan;33(1):55-67. Epub 2016 Aug 19 doi: 10.1007/s00381-016-3207-y. PMID: 27541864
Albert GW
Acta Paediatr 2016 Aug;105(8):890-4. Epub 2016 Apr 24 doi: 10.1111/apa.13422. PMID: 27059606
Selden NR, Nixon RR, Skoog SR, Lashley DB
J Neurosurg 2006 Sep;105(3 Suppl):214-8. doi: 10.3171/ped.2006.105.3.214. PMID: 16970235
Pang D
Neurosurg Focus 2001 Jan 15;10(1):e6. doi: 10.3171/foc.2001.10.1.7. PMID: 16749758

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