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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
Clinical presentation: Multiple café au lait macules, axillary freckling, and macrocephaly are found. Patients can also have learning disabilities. Although this disorder is a so-called RASopathy like neurofibromatosis, patients do not have neurofibromas, Lisch nodules, or optic gliomas.
Disorders of keratinization and other genodermatoses
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
NF1 is caused by decreased levels of neurofibromin, due to mutation of the NF1 gene. The presence of multiple brown macules (café-au-lait macules), axillary and intertriginous freckling, and neurofibromas, which are benign nerve sheath tumors are characteristic of this disorder. Neurofibromas arising from peripheral cutaneous nerves appear as soft, skin-colored, pedunculated masses protruding from the skin surface and result in significant cosmetic disability (Figure 15.9). Lisch nodules in the iris are diagnostic. Optic nerve tumors and bony lesions like hypoplasia of the sphenoid wing, pseudoarthrosis of the long bones, and scoliosis due to vertebral involvement are common causes of morbidity. These patients are also at an increased risk of developing a variety of neoplasms like pheochromocytoma, rhabdomyosarcoma, chronic myelomonocytic leukaemia, etc.
Neuro-ophthalmology
Published in Mostafa Khalil, Omar Kouli, The Duke Elder Exam of Ophthalmology, 2019
Ophthalmic Optic nerve glioma.Bilateral Lisch nodules (iris hamartomas).Plexiform neurofibromas: ‘Bag of worms’ sensation in the eyelidsChoroidal naevi: Patients with this have a higher risk of choroidal melanoma
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae
Published in Ophthalmic Genetics, 2022
Akshaya L. Thananjeyan, Tanya Karaconji, Maree Flaherty, Sophia Zagora, Robyn V. Jamieson, John R. B. Grigg
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder primarily affecting the skin, eyes and peripheral nervous system (1). Occurring in approximately 1 in 3000 individuals worldwide (1), it is diagnosed by the revised diagnostic criteria for NF1 by Legius et al. (2) published in 2021. Clinical manifestations of NF1 described include café-au-lait macules, inguinal and/or axillary freckling, Lisch nodules, neurofibromas, optic pathway gliomas (OPG) and osseous dysplasia (2). These features may not be present at birth and may present later in life. Lisch nodules, for example, are unusual before the age of 2; however, they are present in over 90% of adults with NF1 (1).
Neurofibromatous neuropathy: An ultrastructural study
Published in Ultrastructural Pathology, 2018
Chiara Terracciano, Christa Pachatz, Emanuele Rastelli, Francesco Saverio Pastore, Mariarosa Anna Beatrice Melone, Roberto Massa
We report the sporadic case of a 46 years old woman presenting with bilateral painful masses in supraclavicular region. Her neurological examination showed diffuse hypo-reflexia, pain and thermal sensory reduction in the hands, and a reduced vibration and deep touch sensation in the distal portions of the lower limbs. None of the typical cutaneous lesions of NF1, such as “cafè au lait” macules, dermal fibromas, and axillary or inguinal freckling, were present. Ophthalmological evaluation ruled out the presence of Lisch nodules. Routine blood tests were unremarkable.
The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1
Published in Ophthalmic Genetics, 2021
Corina M. Chilibeck, Shaheen Shah, Heather C. Russell, Andrea L. Vincent
Lisch nodules were present in 64 patients by the end of the study (mean 10.3 ± 9.9 years, range 1.0–43). Patients diagnosed with NF1 at age 20 years or less with Lisch nodules observed are represented in Figure 4a; the mean age Lisch nodules were observed in patients 10 years and under was 5.4 ± 2.5 years (range 1.0–10), and in those 5 and under, at 3.5 ± 1.3 years (range 1.0–5.0). Correlation of age-specific penetrance of Lisch nodules with choroidal neurofibromas as observed are shown in Figure 4b and Figure 5.