Presenter: Leeor Porges DO, Pamela Sheridan DO

Dermatology Program: Broward General Medical Center

Program Director: Carlos Nousari MD

Submitted on: July 9, 2016

CHIEF COMPLAINT:  dark spots on torso and extremities

CLINICAL HISTORY: A 17-year-old girl admitted for evaluation of non-radiating right upper quadrant abdominal pain which had been present for 3 days. The further exam showed unique skin lesions and extracutaneous findings. Family history includes a mother with multiple cafe au lait macules.

PHYSICAL EXAM:
Physical examination revealed 24 café-au-lait macules on her limbs and torso ranging in size from 0.5 cm to a 7 cm café-au-lait macule on her left lateral thigh. Additionally, she was found to have axillary freckling and three subcutaneous nodules on the face and neck. The preliminary ophthalmologic examination had shown multiple yellow to brown pigmented macules within the irises, clinically consistent with Lisch nodules.

LABORATORY TESTS:

MRI: retroperitoneal mass

DERMATOHISTOPATHOLOGY:

No biopsy was done. Histopathologically cafe au lait macules portray nonspecific findings which include a higher number of melanocytes compared to the surrounding skin and giant melanosomes.
Neurofibromas are well-circumscribed and un-encapsulated with spindle cells and mast cells in a collagenous stroma. Plexiform neurofibromas resemble Meissner’s corpuscles and have large nerve fascicles.

DIFFERENTIAL DIAGNOSIS:

1.   Neurofibromatosis type 1
2.   Watson syndrome
3.   Neurofibromatosis 2
4.   Juvenile xanthogranulomas with multiple cafe au lait macules
5.   Legius (NF1-like) syndrome