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Gastrocutaneous syndrome

MedGen UID:
338154
Concept ID:
C1850899
Disease or Syndrome
Synonym: Peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia
SNOMED CT: Gastrocutaneous syndrome (782946000)
 
Monarch Initiative: MONDO:0007651
OMIM®: 137270
Orphanet: ORPHA2069

Definition

A rare syndromic hyperpigmentation of the skin with characteristics of multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. [from SNOMEDCT_US]

Clinical features

From HPO
Peptic ulcer
MedGen UID:
45384
Concept ID:
C0030920
Disease or Syndrome
The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.
Hiatus hernia
MedGen UID:
483347
Concept ID:
C3489393
Disease or Syndrome
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Multiple lentigines
MedGen UID:
272242
Concept ID:
C1328931
Disease or Syndrome
Presence of an unusually high number of lentigines (singular
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGastrocutaneous syndrome
Follow this link to review classifications for Gastrocutaneous syndrome in Orphanet.

Recent clinical studies

Etiology

Fernandes AR, Elliott T, McInnis C, Easterbrook B, Walton JM
J Pediatr Surg 2018 May;53(5):933-936. Epub 2018 Feb 8 doi: 10.1016/j.jpedsurg.2018.02.017. PMID: 29506815
Demirozu ZT, Radovancevic R, Hochman LF, Gregoric ID, Letsou GV, Kar B, Bogaev RC, Frazier OH
J Heart Lung Transplant 2011 Aug;30(8):849-53. Epub 2011 Apr 29 doi: 10.1016/j.healun.2011.03.008. PMID: 21530318
Slater B, Rangel S, Ramamoorthy C, Abrajano C, Albanese CT
J Pediatr Surg 2007 Jun;42(6):1118-21. doi: 10.1016/j.jpedsurg.2007.01.049. PMID: 17560232

Therapy

Cwaliński J, Hermann J, Banasiewicz T, Paszlowski J
Wound Manag Prev 2019 Jul;65(7):36-40. PMID: 31373562
Fernandes AR, Elliott T, McInnis C, Easterbrook B, Walton JM
J Pediatr Surg 2018 May;53(5):933-936. Epub 2018 Feb 8 doi: 10.1016/j.jpedsurg.2018.02.017. PMID: 29506815
Sikiric P, Seiwerth S, Rucman R, Turkovic B, Rokotov DS, Brcic L, Sever M, Klicek R, Radic B, Drmic D, Ilic S, Kolenc D, Vrcic H, Sebecic B
Curr Pharm Des 2011;17(16):1612-32. doi: 10.2174/138161211796196954. PMID: 21548867
Demirozu ZT, Radovancevic R, Hochman LF, Gregoric ID, Letsou GV, Kar B, Bogaev RC, Frazier OH
J Heart Lung Transplant 2011 Aug;30(8):849-53. Epub 2011 Apr 29 doi: 10.1016/j.healun.2011.03.008. PMID: 21530318
Leung E, Chung L, Hamouda A, Nassar AH
Surg Endosc 2007 Sep;21(9):1671-3. Epub 2007 Feb 16 doi: 10.1007/s00464-007-9224-x. PMID: 17762960

Prognosis

Fernandes AR, Elliott T, McInnis C, Easterbrook B, Walton JM
J Pediatr Surg 2018 May;53(5):933-936. Epub 2018 Feb 8 doi: 10.1016/j.jpedsurg.2018.02.017. PMID: 29506815

Clinical prediction guides

Cwaliński J, Hermann J, Banasiewicz T, Paszlowski J
Wound Manag Prev 2019 Jul;65(7):36-40. PMID: 31373562
Slater B, Rangel S, Ramamoorthy C, Abrajano C, Albanese CT
J Pediatr Surg 2007 Jun;42(6):1118-21. doi: 10.1016/j.jpedsurg.2007.01.049. PMID: 17560232

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