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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Neurofibromatosis type 1 differential diagnosis

Introduction


Template:Atherosclerosis

Overview

Overview

Neurofibromatosis type 1 should be differentiated from other genetic disorders who present with overlapping features, such as Von Hippel-Lindau syndrome, Carney complex, Li-Fraumeni syndrome, Gardner’s syndrome, Multiple endocrine neoplasia type 2, Cowden syndrome, Acromegaly/gigantism, Pituitary adenoma, Hyperparathyroidism, Pheochromocytoma/paraganglioma, Adrenocortical carcinoma.

Differentiating neurofibromatosis type 1 from other Diseases

Differentiating neurofibromatosis type 1 from other Diseases

Neurofibromatosis type 1 can be differentitated from other genetic disorders by the following characteristics:[1][2][3][4][5][6][7][8][9][10][11]

Disease Gene Chromosome Differentiating Features Components of MEN Diagnosis
Parathyroid Pitutary Pancreas
Von Hippel-Lindau syndrome[1] Von Hippel–Lindau tumor suppressor[1] 3p25.3[1] – – +
  • Clinical diagnosis[1]
  • In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.[1]
Carney complex[2] PRKAR1A[2] 17q23-q24[2]
  • Myxomas of the heart[2]
  • Hyperpigmentation of the skin (lentiginosis)[2]
  • Endocrine (ACTH-independent Cushing’s syndrome due to primary pigmented nodular adrenocortical disease)[2]
 – – –
  • Clinical diagnosis[2]
Neurofibromatosis type 1[12] NF1[12] 17[12] – – – Prenatal
  • Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.[12]

Postnatal Cardinal Clinical Features” are required for positive diagnosis.[12]

  • Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.[12]
  • Two or more neurofibromas of any type or 1 plexiform neurofibroma[12]
  • Freckling in the axillary (Crowe sign) or inguinal regions[12]
  • Optic glioma[12]
  • Two or more Lisch nodules (pigmented iris hamartomas)[12]
  • A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.[12]
Li-Fraumeni syndrome[3] TP53[3] 17[3] Early onset of diverse amount of cancers such as – – – Criteria
  • Sarcoma at a young age (below 45)[3]
  • A first-degree relative diagnosed with any cancer at a young age (below 45)[3]
  • A first or second degree relative with any cancer diagnosed before age 60.[3]
Gardner’s syndrome[4] APC[4] 5q21[4] – – –
  • Clinical diagnosis[4]
  • Colonoscopy[4]
Multiple endocrine neoplasia type 2[5] RET[5] – + – –

Criteria Two or more specific endocrine tumors

Cowden syndrome[6] PTEN[6] – Hamartomas[6] – – –
  • PTEN mutation probability risk calculator[6]
Acromegaly/gigantism[7] GNAS1[7] 20[7] – + –
Pituitary adenoma[8] – – – + –
Hyperparathyroidism[9] – – – + – –
Pheochromocytoma/paraganglioma[10] VHL RET NF1  SDHB SDHD[10] – Characterized by – – –
  • Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.[10]
Adrenocortical carcinoma[11] 17p, 13q[11] – – –
  • Increased serum glucose[11]
  • Increased urine cortisol[11]
  • Serum androstenedione and dehydroepiandrosterone[11]
  • Low serum potassium[11]
  • Low plasma renin activity[11]
  • High serum aldosterone.[11]
  • Excess serum estrogen.[11]
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013[13]
References

References

  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M, Bhullar JS (2017). “A Review of Von Hippel-Lindau Syndrome”. J Kidney Cancer VHL. 4 (3): 20–29. doi:10.15586/jkcvhl.2017.88. PMC 5541202. PMID 28785532.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Correa R, Salpea P, Stratakis CA (October 2015). “Carney complex: an update”. Eur. J. Endocrinol. 173 (4): M85–97. doi:10.1530/EJE-15-0209. PMC 4553126. PMID 26130139.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Correa H (June 2016). “Li-Fraumeni Syndrome”. J Pediatr Genet. 5 (2): 84–8. doi:10.1055/s-0036-1579759. PMC 4918696. PMID 27617148.
  4. ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 Füredi G, Varga I, Máj C, Szilágyi A, Madácsy L, Paál Z, Altorjay Á (September 2019). “[Gardner’s syndrome, a rare disease]”. Magy Seb (in Hungarian). 72 (3): 107–111. doi:10.1556/1046.72.2019.3.4. PMID 31544480.
  5. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 5.11 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301434. Vancouver style error: initials (help); Missing or empty |title= (help)
  6. ↑ 6.0 6.1 6.2 6.3 6.4 Taghavi A, Mirfazaelian H, Shirian S, Aledavood A, Akhgar A (June 2018). “Cowden syndrome”. Br J Hosp Med (Lond). 79 (6): 352–353. doi:10.12968/hmed.2018.79.6.352. PMID 29894252.
  7. ↑ 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 Colao A, Grasso L, Giustina A, Melmed S, Chanson P, Pereira AM, Pivonello R (March 2019). “Acromegaly”. Nat Rev Dis Primers. 5 (1): 20. doi:10.1038/s41572-019-0071-6. PMID 30899019. Vancouver style error: initials (help)
  8. ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 Møller MW, Andersen MS, Glintborg D, Pedersen CB, Halle B, Kristensen BW, Poulsen FR (May 2019). “[Pituitary adenoma]”. Ugeskr. Laeg. (in Danish). 181 (20). PMID 31124446.
  9. ↑ 9.00 9.01 9.02 9.03 9.04 9.05 9.06 9.07 9.08 9.09 Bilezikian JP, Bandeira L, Khan A, Cusano NE (January 2018). “Hyperparathyroidism”. Lancet. 391 (10116): 168–178. doi:10.1016/S0140-6736(17)31430-7. PMID 28923463.
  10. ↑ 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 10.8 Farrugia FA, Charalampopoulos A (July 2019). “Pheochromocytoma”. Endocr Regul. 53 (3): 191–212. doi:10.2478/enr-2019-0020. PMID 31517632.
  11. ↑ 11.00 11.01 11.02 11.03 11.04 11.05 11.06 11.07 11.08 11.09 11.10 11.11 11.12 11.13 11.14 11.15 11.16 Kranjčević K (December 2016). “[ADRENOCORTICAL CARCINOMA]”. Acta Med Croatica. 70 (4–5): 315–8. PMID 29087170.
  12. ↑ 12.00 12.01 12.02 12.03 12.04 12.05 12.06 12.07 12.08 12.09 12.10 12.11 12.12 12.13 12.14 12.15 Cimino PJ, Gutmann DH (2018). “Neurofibromatosis type 1”. Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
  13. ↑ Toledo SP, Lourenço DM, Toledo RA (July 2013). “A differential diagnosis of inherited endocrine tumors and their tumor counterparts”. Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.