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Total: 13 |
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| PMID (PMCID) | ||
|---|---|---|
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28378438 |
FEMALE | Adult |
| Legius syndrome: A case report. | ||
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Kimura R, Yoshida Y, Maruoka R, Kosaki K, Yamamoto O. J Dermatol. 2017;44(4):459-460. |
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| A 37-year-old woman presented with multiple cafe-au-lait macules and freckles but has no other features of neurofibromatosis type 1 (NF-1). | ||
|
28150585 |
MIXED_SAMPLE | Infant |
| The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation. | ||
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Sekelska M, Briatkova L, Olcak T, Bolcekova A, Ilencikova D, Kadasi L, Zatkova A. Gen Physiol Biophys. 2017;36(2):205-210. |
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| Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. | ||
|
27173220 |
MALE | |
| NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1. | ||
|
Su SY, Zhou X, Pang XM, Chen CY, Li SH, Liu JL. Genet Mol Res. 2016;15(2):. |
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| Neurofibromatosis type 1, also known as NF1 or von Recklinghausen's disease, is a common neurocutaneous syndrome that presents with multiple cafe-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. | ||
|
25960657 (4410829) |
OTHER | |
| A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafe-au-lait macules and intertriginous freckling. | ||
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Jia WX, Xiao XM, Wu JB, Ma YP, Ge YP, Li Q, Mao QX, Li CR. Ther Clin Risk Manag. 2015;11:635-8. |
||
| This study reveals a novel KIT mutation in piebaldism, and it further supports that cafe-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1). | ||
|
23016555 (3967413) |
MIXED_SAMPLE | |
| Association of Piebaldism, multiple cafe-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). | ||
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Chiu YE, Dugan S, Basel D, Siegel DH. Pediatr Dermatol. 2013;30(3):379-82. |
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| Based on our current understanding of KIT and SPRED1 protein interactions, we propose that cafe-au-lait macules and freckling may be seen in some patients with piebaldism and does not necessarily represent coexistence of neurofibromatosis type 1. | ||
|
23399325 (3579694) |
MALE | Child |
| Four-year follow-up study in a NF1 boy with a focal pontine hamartoma. | ||
|
Parisi P, Persechino S, Paolino MC, Nicita F, Torrente I, Bozzao A, Villa MP. Ital J Pediatr. 2013;39:10. |
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| The condition usually appears in childhood and is diagnosed if two of the following are present: six or more cafe-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. | ||
|
22438235 |
MALE | Child |
| Cafe-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. | ||
|
Stevens CA, Chiang PW, Messiaen LM. Am J Med Genet A. 2012;158A(5):1195-9. |
||
| Cafe-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. | ||
|
22438235 |
MALE | Child |
| Cafe-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. | ||
|
Stevens CA, Chiang PW, Messiaen LM. Am J Med Genet A. 2012;158A(5):1195-9. |
||
| There are four reports describing six patients who were said to have both piebaldism and neurofibromatosis type 1 (NF1) due to the presence of multiple CALM and intertriginous freckling, but none of these patients had undergone comprehensive NF1 mutation analysis. | ||
|
21071237 |
FEMALE | |
| Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible. | ||
|
Chrcanovic BR, Gomez RS, Freire-Maia B. J Craniomaxillofac Surg. 2011;39(7):538-43. |
||
| Clinically, Neurofibromatosis type 1 is characterized by cafe-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors of the central nervous system. | ||
|
21323101 |
MIXED_SAMPLE | Middle Aged |
| Segmental neurofibromatosis: report of 3 cases. | ||
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Mansur AT, Goktay F, Akkaya AD, Gunes P. Cutis. 2011;87(1):45-50. |
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| Segmental neurofibromatosis (SNF) is an uncommon variant of neurofibromatosis type 1 (NF-1) that is characterized by cafe au lait spots, freckles, and/or neurofibromas limited to a body segment. | ||
|
16939586 |
MALE | |
| Bilateral segmental neurofibromatosis with gastric carcinoma. | ||
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Kajimoto A, Oiso N, Fukai K, Ishii M. Clin Exp Dermatol. 2007;32(1):43-4. |
||
| Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder characterized by cafe-au-lait spots, neurofibromas, intertriginous freckles, and Lisch nodules in the iris. | ||
|
15635820 |
FEMALE | Middle Aged |
| Autoimmune haemolysis as an unusual cause of anaemia in von Recklinghausen's disease. | ||
|
Tekin F, Ozutemiz O, Carcurgan S, Ilter T. Neth J Med. 2004;62(9):337-9. |
||
| Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nodules, short stature, optic glioma and central nervous system tumours. | ||
|
8849480 |
MALE | Adult |
| [A case report of dysembryoplastic neuroepithelial tumor associated with neurofibromatosis type 1]. | ||
|
Kannuki S, Bando K, Soga T, Matsumoto K, Hirose T. No Shinkei Geka. 1996;24(2):183-8. |
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| On general physiological examination, many cafe au lait spots and freckling could be noted, showing that the case was neurofibromatosis type 1. | ||