Multiple huge epidermal inclusion cysts mistaken as neurofibromatosis.
Epidermal inclusion cyst is one of the common benign soft tissue tumors, and it can be
easily confirmed and treated by surgical excision. We experienced a patient who had multiple
masses on the face and scalp region, and the masses had been misdiagnosed as neurofibromatosis
because of accompanying mental retardation. We would like to introduce a case of clinical
diagnosis error caused by the lack of radiologic evaluation and pathologic confirmation. A
27-year-old male patient visited with multiple masses, with a length of approximately 1 to 10 cm
on the face and scalp region. These mass have developed since childhood without known etiology,
and there has been no histologic examination or surgical excision done in the past. The
patient's history of seizure disorder and mental retardation led the primary clinician to
diagnose it as neurofibromatosis in the initial stage, and therefore, the clinician gave an
advice on the possibility of frequent recurrence to the patient. As the masses increased in
size, the patient came to our hospital after all. We found that the masses were soft and mobile
through the physical examination, and magnetic resonance imaging showed evidence of epidermal
inclusion cyst, which is distinguished from neurofibromatosis. Based on physical examination and
magnetic resonance imaging, we performed total excision and biopsies. On the histologic
examination, it was diagnosed as an epidermal inclusion cyst showing keratotic material
internally, and the cyst wall was composed of lamellate keratin. The follow-up period was 12
months, and a recurrence has not occurred. The wound was healed without any specific
complication, and both the patient and the guardian were satisfied with the physical
enhancement. We have observed a misdiagnosed case that was misconceived by the situation,
accompanying mental retardation. Due to this misconception, any surgical treatment was not
performed at all, and the symptoms eventually worsened as multiple huge epidermal inclusion
cysts. We present this case with a brief review of literature.
