Van-Lohuizen Syndrome

Van-Lohuizen Syndrome

Article
Brain & Nerve
Eye & Vision
+4
Contributed byKrish Tangella MD, MBAMay 18, 2020

The topic Van-Lohuizen Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Cutis Marmorata Telangiectatica Congenita.

Quick Summary:

  • Cutis Marmorata Telangiectatica Congenita (CMTC) is described as a congenital birth mark. ‘Cutis marmorata’ means a reddish marble-like appearance of skin following exposure to cold weather; ‘telangiectatica’ indicates permanent widening of blood vessel; and ‘congenita’ indicates that the condition is present at birth
  • CMTC is an uncommon disorder and can occur sporadically (random) in any newborn. This defect is due to abnormally widening blood vessels of the skin, most commonly observed in the lower limbs
  • It is important to differentiate CMTC from normal (physiological) cutis marmorata, which is seen in some children when they are exposed to cold weather and disappears on rewarming. CMTC lesions are clearly distinguishable from surrounding skin and do not disappear on rewarming in comparison to physiologic cutis marmorata
  • Although CMTC is a benign (non-cancer, harmless) condition with a good prognosis, it is important to identify the lesions, because some children may have other troublesome associated conditions
  •  Telangiectatica Congenita can be associated with other congenital anomalies such as asymmetrical growth of the hands and legs (e.g. one leg may be fatter than the other), congenital glaucoma (increased pressure in the eyes), fusion of two or more fingers (syndactyly), and Kartagener’s syndrome (abnormality with cilia of the respiratory tract, leading to frequent infections)
  • The exact cause and mechanism of development of this disorder is unknown. Hence, there are no identifiable risk factors that can help prevent CMTC from occurring
  • In most individuals no treatment is required for CMTC and the prognosis is very good in those with no associated conditions

Please find comprehensive information on Cutis Marmorata Telangiectatica Congenita regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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