Neurofibromatosis type I (von Recklinghausen’s disease): A family case report and literature review

Authors: Parichehr Ghalayani,1 Zahra Saberi,2 and Farimah Sardari2


Five members of a family, a mother and her four offsprings, referred to the Department of Oral and Maxillofacial Medicine to be diagnosed and received oral and dental treatments. During clinical examination, we found clinical manifestations of neurofibromatosis in all of them. We have described all of them from older to younger in the following text:

Case 1

The mother, who was 50 years old, had several soft tissue cutaneous nodules on the body (neurofibroma), including the head and neck, and multiple hyperpigmented macules (Café-au-lait pigmentation) [Figure 1]. She did not have any systemic problems in the organs of her body or any oral manifestation. All her offsprings had skin neurofibroma and Café-au-lait pigmentations in variable sizes and frequencies [Figure 2]. She noted that her first child died because of severity of manifestations. She also mentioned that her mother and aunt had Café-au-lait spots and neurofibroma on their skin.

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Figure 1
Pelexiform neurofibroma and café-au-lait spots in the mother
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Figure 2
Café-au-lait spots and small neurofibromas in the third offspring
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