LEGIUS SYNDROME PDF DOWNLOAD

Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in and is often mistaken for neurofibromatosis type I (NF-1). It is caused by mutations in the SPRED1 gene. It is also known as neurofibromatosis type 1-like syndrome (NFLS).Causes‎: ‎Mutations in the SPRED1 gene. Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.‎Summary · ‎Symptoms · ‎Find a Specialist · ‎Organizations. Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.


LEGIUS SYNDROME PDF DOWNLOAD

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LEGIUS SYNDROME PDF DOWNLOAD


Facial dysmorphism was not observed.

Legius syndrome Sharma MK, Kumar R, Gupta S, Jain SK - Indian J Paediatr Dermatol

As legius syndrome of the patients had neurofibromas or Lisch nodules, Pasmant et al. All had pigmentary skin changes, but none had neurofibromas, Lisch nodules, dysmorphic features, or learning disabilities.

LEGIUS SYNDROME PDF DOWNLOAD

The phenotype included a high prevalence of cafe-au-lait spots and axillary and groin freckling. Other legius syndrome features included lipomas and learning disabilities.

Facial dysmorphism was not observed.

NF6 was ruled out by the presence of axillary freckling. Other features legius syndrome LEOPARD syndrome are electrocardiography conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and sensorineural deafness.

Legius syndrome Sharma MK, Kumar R, Gupta S, Jain SK - Indian J Paediatr Dermatol

How can the doctor tell if I have NF1 or Legius syndrome? If the doctor thinks there is some doubt about the diagnosis and the situation needs clarifying, legius syndrome genetic test can be undertaken.

Most individuals who are diagnosed with Legius syndrome will have a parent legius syndrome has the same condition. It is important to be clear whether a legius syndrome has NF1 or Legius syndrome to ensure the correct diagnosis has been made in the first place so the family has accurate information.

The NF1 was ruled out by the absence of Lisch nodules in iris, neurofibromas, and optic glioma on CT head. NF5 was ruled out by the legius syndrome of neurofibroma.