​Dermatology - Neurofibromatosis

​Dermatology - Neurofibromatosis
Neurofibromatosis is a hereditary condition that mostly impacts the skin, neurological system, bones, and endocrine glands. There are two primary forms: Type 1, also known as classic von Recklinghausen, and Type 2, sometimes referred to as central or acoustic neurofibromatosis. Both types exhibit café-au-lait macules and neurofibromas, however, only Type 2 presents with bilateral acoustic neuromas, while only Type 1 displays Lisch nodules.

Patients exhibit a range of symptoms including hypertension headaches (pheochromocytomas), pathologic fractures (bone cysts), mental retardation, brain tumor (astrocytoma), auditory neuromas, short stature, and early puberty.
The lesions are café-au-lait macules, which can be either light or dark brown. They have a homogeneous appearance with well-defined edges and come in various sizes, ranging from small freckle-like macules less than 2 mm in diameter to very massive brown macules exceeding 20 cm. Typically, macules measure 2–5 cm and can range in quantity from a small number to a large number.
Axillary freckling refers to the presence of little freckle-like lesions in the armpits, which is a highly distinctive feature.
Neurofibromas are papules that can vary in color, appearing as skin-colored, pink, or brown. They can have a flat, dome-shaped, or pedunculated appearance and may have a soft or firm texture. Occasionally, they can be painful to the touch. The presence of the "buttonhole sign" - the invagination with the tip of the index finger - is a characteristic feature that is highly indicative of the condition. Plexiform neuromas are characterized by their flaccid, pliable, and spongy texture, and can potentially grow to a considerable size, affecting an entire limb, the head, or a section of the torso. Lisch nodules are pigmented benign growths on the iris that can be observed during a slit lamp examination. They have a glassy, transparent, dome-shaped appearance and range in color from yellow to brown.


A diagnosis is established when at least two of the following criteria are met: 1) Adults with more than six café-au-lait macules larger than 1.5 cm, and children with more than five lesions larger than 0.5 cm; 2) Multiple freckles in the armpit and groin areas; 3) More than two neurofibromas or one plexiform neurofibroma; 4) Abnormal development of the sphenoid wing or congenital bending/thinning of the outer layer of long bones, with or without abnormal joint formation; 5) Tumors in both optic nerves; 6) More than two Lisch nodules; or 7) Having a first-degree relative (parent, sibling, or child) with neurofibromatosis.
Albright syndrome, which consists of polycytic fibroma, dysplasia, and precocious puberty, is encompassed within the differential.


Direct patients to genetic counseling, orthopedics, and behavioral-developmental pediatrics.
Conduct regular annual monitoring to identify sarcomas that may develop within plexiform neuromas. Surgical intervention is necessary for the treatment of facial asymmetry and malignancies.