Pathology
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Atlas of dermatopathology
Josef Feit, Hana Jedličková, Günter Burg, Luděk Matyska, Spasoje Radovanovic et al.
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ExpSys: non-tumors
ExpSys: tumors
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+ Introduction
+ Literature
+ Support
+ Skin biopsy
+ Non-tumorous skin diseases
+ Skin tumors
+ Cysts of the skin and subcutis
+ Soft tissue lesions
+ Some lesions of the oral cavity
+ Dermatovenerology
+ Collection of histological slides by prof. Günter Burg
+ Collection of histological slides by prof. Werner Kempf
+ Collection of histological slides of dr. Ram Chandra Adhikari
Recklinghausen's disease
MUDr. Hana Jedličková, PhD.
Introduction

Segmental neurofibromatosis is a rare variant of neurofibromatosis limited to one or several usually unilateral body areas. It is caused by a postzygotic mutation of the neurofibromatosis I gene, resulting in somatic mosaicism.

Von Recklinghausen neurofibromatosis belongs to the most frequent phakomatoses with estimated incidence 1 : 4000. NF is inherited as an autosomal dominant disorder. New mutation occurs in 30 – 50% of cases.

NF 1 has skin, neurological and orthopedic symptoms. It is caused by point mutation, deletions or mosaicism of NF1 gene on the chromosome 17, coding the protein neurofibromin. Neurofibromin is a tumor suppressor protein.

The risk of systemic disease in the limited form is low, nevertheless can not be excluded. If the mosaicism mutation occurs early, clinically the patient can suffer from generalized NF. In the case of gonadal mosaicism, the disease can be transferred to the offspring.

Classification

Classification of NF (Viskochil and Carey)

  • Neurofibromatosis 1, NF 1
  • Neurofibromatosis 2, NF 2
  • alternative forms of NF 1 or NF 2 (incomplete or atypical symptoms):
    • mixed type
    • localized NF (segmental, gastrointestinal, spinal, multiple café au lait spots
    • schwannomatosis
  • diseases with other symptoms:
    • Noonan syndrome
    • Watson syndrome
Clinical signs

Neurofibromatosis 1 diagnostic criteria (2 or more of the following):

  • 6 and more café au lait spots:
    • larger than 0.5 cm in adolescents
    • larger than 1.5 cm in adults
  • 1 – 2 neurofibromas or 1 plexiform neurofibroma
  • axillary or inguinal freckles
  • optic nerve glioma
  • Lisch nodules (iris hamartomas)
  • typical bone deformity: sphenoid bone dysplasia, long bone cortex thinning, pseudoarthrosis
  • a first degree relative fulfilling criteria of NF 1

Clinical features:

  • multiple neurofibromas are characteristic of neurofibromatosis (Recklinghausen's disease), type I.
  • location: mostly trunk
  • roundish, soft, pedunculated and pendulating tumors:
  • color: pink, skin color, light brown
  • some tumors can be pushed into the skin (herniation from the subcutis), slight pain
  • café au lait, nevi, skeletal changes, changes in the nerve system are common
  • typical are plexiform neurofibromas, which are very large (affect large body areas, eg. the whole extremity)

Cafe au lait spot (845)

Multiple neurofibromas (6127)

Multiple neurofibromas (843)

Basal neurofibroma (73617)

Pictures

Neurofibromas, Recklinghausen's disease: Neurofibroma, Clinical picture (843)

Morbus Recklinghausen, back: Neurofibroma, Clinical picture (844)

Morbus Recklinghausen, patch café au lait: Neurofibromatosis, cafe au lait spot, Clinical picture (845)

Morbus Recklinghausen, neurofibromas (dermatochalasia): Neurofibroma, Clinical picture (846)

Café au lait spot: Cafe au lait spot, Clinical picture (2832)

Neurofibromatosis of Recklinghausen: Neurofibromatosis of Recklinghausen, Clinical picture (3133) Neurofibromatosis of Recklinghausen, Clinical picture (3134) Neurofibromatosis of Recklinghausen, Clinical picture (3135) Neurofibromatosis of Recklinghausen, Clinical picture (3136)

Neurofibromatosis of Recklinghausen, neurofibromas and café au lait spot: Neurofibromatosis of Recklinghausen, type I., Clinical picture (6124) Neurofibromatosis of Recklinghausen, type I., Clinical picture (6125) Neurofibromatosis of Recklinghausen, type I., Clinical picture (6126) Neurofibromatosis of Recklinghausen, type I., Clinical picture (6127)

Neurofibromatosis of Recklinghausen, MRI: M. Recklinghausen, neurofibrom baze, MR T1 FS nativ transversal, X-ray (73618) M. Recklinghausen, neurofibrom baze, MR T1 FS kontrast transversal, X-ray (73617)

Further examples of neurofibromatosis:

Further examples of café au lait spots:

Histology

Histological picture in type I. neurofibromatosis corresponds to multiple neurofibromas. With time malignant transformation is common.

Recklinghausen's disease (12923)

Recklinghausen's disease (12923)

Pictures

Recklinghausen's disease: Neurofibroma, HE 2x (2166) Neurofibroma, HE 10x (2167) Neurofibroma, HE 40x (2168)

Another case: Neurofibromatosis of Recklinghausen, HE 20x (5376) Neurofibromatosis of Recklinghausen, HE 40x (12923)

Another case of Recklinghausen's disease: Neurofibromatosis of Recklinghausen, HE 10x (4142) Neurofibromatosis of Recklinghausen, HE 40x (4143) Neurofibromatosis of Recklinghausen, S100 40x (4144)

Neurofibroma, Recklinghausen's disease: Neurofibromatosis of Recklinghausen, HE 60x (13903)

Neurofibroma, Recklinghausen's disease: Neurofibromatosis of Recklinghausen, HE 60x (14204) Neurofibromatosis of Recklinghausen, HE 60x (14205)

Cafe au lait spot: Cafe au lait spot, HE 40x (5137)

Biopsy of the colon mucosa, m. Recklinghausen: Colon, neurofibromatosis of Recklinghausen, HE 40x (12731)