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Results: 6

1.

Hereditary epistaxis

MedGen UID:
137928
Concept ID:
C0339819
Disease or Syndrome
2.

Hemangiomatosis

MedGen UID:
506074
Concept ID:
CN006540
Finding
3.

Telangiectasia

MedGen UID:
369777
Concept ID:
C1963248
Finding
4.

Hemangioma, capillary infantile

Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births (Mulliken and Young, 1988). Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations (see, e.g., CMC1, 163000; 108010; and CCM, 116860), in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Spring and Bentz, 2005; Legiehn and Heran, 2006). Legiehn and Heran (2006) noted that the term 'hemangioma' in adults is considered inaccurate and should be discarded. Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported (Walter et al., 1999). [from OMIM]

MedGen UID:
355573
Concept ID:
C1865871
Disease or Syndrome
5.

Pulmonary capillary hemangiomatosis

MedGen UID:
348097
Concept ID:
C1860397
Finding
6.

Osler hemorrhagic telangiectasia syndrome

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis not suspected until adolescence or later. Small AVMs (or telangiectases) close to the surface of the skin and mucous membranes often rupture and bleed after slight trauma. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years. Large AVMs often cause symptoms when they occur in the brain, liver, or lungs; complications from bleeding or shunting may be sudden and catastrophic. [from GeneReviews]

MedGen UID:
52657
Concept ID:
C0039445
Disease or Syndrome

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