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Monday, August 24, 2015

A 2 Year Old Boy With Cafe au lait Spots

A 2 year old boy was seen by a general physician for symptoms of common cold. While doing the general physical
examination , he was seen to have a large pigmented flat patch on the right side of his abdomen. On questioning mother said it is present since birth and has increased in size with the growth of the child, it has never caused any problem and so she was not concerned.

Case Discussion:
Cafe au lait Spots: The name cafe au lait is French for "coffee with milk" and refers to their light-brown color. These are flat pigmented birth marks. The borders may be smooth or irregular. 
The size and number of cafe au lait spots differ widely and depends upon the underlying cause. Some may be insignificant while others may indicate some underlying medical condition. 

Café-au-lait spots are considered significant if:
 Prepubertal : > 5 mm in size and 5 in number
 Postpubertal : >15 mm in size and 6 in number
 Isolated Café-au-lait spot >15 cm in size
 Any Café-au-lait spot in the center of the body
 Café-au-lait spot associated with neurofibromatosis.

Causes: may include following:

 Neurofibromatosis
 Tuberous sclerosis
 McCune-Albright syndrome
 Ataxia telangiectasia
 Gaucher’s disease
 Chediak-Higashi syndrome
 Fanconi’s anemia.
 Hunter syndrome 

Whereas small café au lait spots are associated with various syndromes, large, solitary, light-brown patches often represent segmental lentigines that are not associated with any neurocutaneous syndromes or developmental anomalies. 

Clinical Features : The presence of numerous pigmented spots may raise the concern for some underlying genetic disorders. The associated physical findings of the genetic syndromes should be looked for to get a diagnosis. 
Cafe au lait spots are usually present at birth, are permanent , and may grow in size or number over time. Cafe au lait spots are themselves benign and do not cause any illness or problem other then the cosmetic issues if present on face, they may sometimes be associated with syndromes such as  Neurofibromatosis Type 1 and McCune-Albright syndrome and may have associated complication secondary to the syndromes. 

Management:
Café au lait macules do not require medical care. When café au lait spots are associated with neurofibromatosis (NF) or another underlying condition, monitoring of associated conditions is required.
Although treatment of these lesions is not necessary, several lasers have been used to treat café au lait macules with variable responses. The result of laser treatment is variable and many times the lesions may reappear. 

1 comment:

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