ABSTRACT
Diffuse neurofibroma is a rarely encountered subtype of neurofibroma but the most common to be misdiagnosed. Its imaging appearance is very similar to that of a vascular malformation, and it is often labelled one until a biopsy proves it to be otherwise. The infrequency of its association with neurofibromatosis makes it a rare and difficult diagnosis. Here, we report the case of a 16-year-old girl who presented with the complaint of a gradually progressive swelling around the right ankle and heel, which was initially diagnosed as a case of a vascular malformation. However, it subsequently turned out to be a diffuse neurofibroma.
Subject(s)
Hemangioma/diagnostic imaging , Neurofibroma/diagnostic imaging , Soft Tissue Neoplasms/diagnostic imaging , Adolescent , Diagnosis, Differential , Female , Humans , Lower Extremity , Neurofibroma/pathology , Soft Tissue Neoplasms/pathology , UltrasonographyABSTRACT
Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Herein we report a case of a 5-month-old male child who presented to our centre with complaint of seizure. The patient had various cutaneous and ocular stigmatas of the disease in the form of patchy alopecia of the scalp, right-sided limbal dermoid and a nodular skin tag near the lateral canthus of the right eye. MRI of the brain was conducted which revealed intracranial lipoma and arachnoid cyst. The constellation of signs and symptoms along with the skin, ocular and CNS findings led to the diagnosis of ECCL.
