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Neurofibromatosis

DOI: 10.1186/2047-783x-14-3-102

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Abstract:

In 1882 the German pathologist Friedrich Daniel von Recklinghausen for the first time described a series of patients with a combination of cutaneous lesions and tumors of the peripheral and central nervous system. Only in the 20th century neurofibromatosis type 1 (NF1), namely Recklinghausen's disease, and neurofibromatosis type 2 (NF2), previously referred to as central neurofibromatosis, were distinguished from each other as two different autosomal dominantly inherited genetic disorders with common features [1-3]. Briefly, NF1 exposes a characteristical cutaneous phenotype including benign neurofibromas, which are mixed tumors composed of all cell types found in the peripheral nerves, hyperpigmented macules, termed café-au-lait macules, the so called axillary/inguinal freckling, as well as pigmented hamartomas of the iris, called Lisch nodules. NF2 on the other hand is mainly restricted to tumors of the central and peripheral nervous system, which are only seldomly accompanied by cutaneous disorders [4].NF1 is considered as one of the most common genetic disorders in human with an incidence of 1/3500 individuals. In 1997, Gutmann and colleagues updated the diagnostic criteria for NF1 and NF2 [5]. Usually cutaneous manifestations are the first symptoms observed in NF1 patients [6]. Café-au-lait macules (CALMs) mainly develop in childhood and are found in almost all patients. CALMs present as light brown macules of about 10 to 40 mm in diameter with an ovoid shape and poorly circumscribed borders (Figure 1). Whereas the presence of ≥ 6 CALMs is defined as strong diagnostic criterion for NF1, additional features are mandatory for a definite diagnosis. A common feature is a characteristic axillary and/or inguinal freckling, which usually develops subsequently to CALMs and which is observed in 90% of all patients (Figure 2) [7]. The development of neurofibromas around or on peripheral nerves is a distinct symptom of NF 1 but is observed to a lesser extent also in NF2 p

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