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Case Reports
. 2022 May;11(5):2252-2255.
doi: 10.4103/jfmpc.jfmpc_1933_21. Epub 2022 May 14.

Neurofibromatosis 1: A family case series

Neha K Sethi  1 , Charu Chadha  1 , Sumit Goyal  2 , Manpreet Kaur  1
Affiliations
Case Reports

Neurofibromatosis 1: A family case series

Neha K Sethi et al. J Family Med Prim Care. 2022 May.

Abstract

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations. We present a photographically well-documented case series of NF in a family (n = 3). Skin manifestations were present in all the patients. The ophthalmic manifestations were Lisch nodules (100% of eyes), subcutaneous neurofibroma of eyelids (33% of eyes), mechanical ptosis (33% of eyes), and mechanical ectropion (16.5% of eyes). We report the rare occurrence of multiple solitary neurofibromas causing mechanical ptosis and mechanical ectropion.

Keywords: Familial; Lisch nodules; Von Recklinghausen disease; hereditary; mechanical ectropion; mechanical ptosis; neurofibroma.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Multiple neurofibromas on the face. (b) Multiple neurofibromas on the eyelid causing upper lid mechanical ptosis and lower lid mechanical ectropion. (c) Plexiform neurofibroma on the side of the scalp. (d) Several Lisch nodules on the iris
Figure 2
Figure 2
(a, b) Multiple neurofibromas on the face and forearm. (c) Café-au-lait spot on the neck. (d) Multiple Lisch nodules on the iris. (e) Surgical scar of the debulking surgery performed on the buttock. (f) Histopathology using HE staining revealed oval- to spindle-shaped cells with a scant amount of cytoplasm suggesting neurofibroma
Figure 3
Figure 3
(a) Multiple neurofibroma and café-au-lait spots on the palmar aspect of the hand. (b) and (c) Multiple neurofibromas and café-au-lait spots on the trunk. (d) Multiple Lisch nodules on the iris
See this image and copyright information in PMC

References

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