id sid tid token lemma pos dpc-5771 1 1 dermatology dermatology NOUN dpc-5771 1 2 : : PUNCT dpc-5771 1 3 practical practical ADJ dpc-5771 1 4 and and CCONJ dpc-5771 1 5 conceptual conceptual ADJ dpc-5771 1 6 image image NOUN dpc-5771 1 7 letter letter NOUN dpc-5771 2 1 | | ADV dpc-5771 2 2 dermatol dermatol ADJ dpc-5771 2 3 pract pract NOUN dpc-5771 2 4 concept concept NOUN dpc-5771 2 5 . . PUNCT dpc-5771 3 1 2025;15(4):5771 2025;15(4):5771 NUM dpc-5771 3 2 1 1 NUM dpc-5771 3 3 legius legius NOUN dpc-5771 3 4 syndrome syndrome NOUN dpc-5771 3 5 : : PUNCT dpc-5771 3 6 a a DET dpc-5771 3 7 clinical clinical ADJ dpc-5771 3 8 observation observation NOUN dpc-5771 3 9 of of ADP dpc-5771 3 10 a a DET dpc-5771 3 11 father father NOUN dpc-5771 3 12 - - PUNCT dpc-5771 3 13 son son NOUN dpc-5771 3 14 pair pair NOUN dpc-5771 3 15 lin lin PROPN dpc-5771 3 16 wang1,2 wang1,2 PROPN dpc-5771 3 17 , , PUNCT dpc-5771 3 18 yiyun yiyun PROPN dpc-5771 3 19 wu2 wu2 PROPN dpc-5771 3 20 , , PUNCT dpc-5771 3 21 wenting wente VERB dpc-5771 3 22 xu2 xu2 NOUN dpc-5771 3 23 , , PUNCT dpc-5771 3 24 cheng cheng PROPN dpc-5771 3 25 tan2 tan2 PROPN dpc-5771 3 26 1 1 NUM dpc-5771 3 27 yancheng yancheng PROPN dpc-5771 3 28 tcm tcm PROPN dpc-5771 3 29 hospital hospital PROPN dpc-5771 3 30 affiliated affiliate VERB dpc-5771 3 31 to to ADP dpc-5771 3 32 nanjing nanjing PROPN dpc-5771 3 33 university university PROPN dpc-5771 3 34 of of ADP dpc-5771 3 35 chinese chinese ADJ dpc-5771 3 36 medicine medicine NOUN dpc-5771 3 37 , , PUNCT dpc-5771 3 38 yancheng yancheng PROPN dpc-5771 3 39 , , PUNCT dpc-5771 3 40 jiangsu jiangsu PROPN dpc-5771 3 41 , , PUNCT dpc-5771 3 42 china china PROPN dpc-5771 3 43 2 2 NUM dpc-5771 3 44 affiliated affiliated ADJ dpc-5771 3 45 hospital hospital NOUN dpc-5771 3 46 of of ADP dpc-5771 3 47 nanjing nanjing PROPN dpc-5771 3 48 university university PROPN dpc-5771 3 49 of of ADP dpc-5771 3 50 chinese chinese ADJ dpc-5771 3 51 medicine medicine NOUN dpc-5771 3 52 , , PUNCT dpc-5771 3 53 nanjing nanjing PROPN dpc-5771 3 54 , , PUNCT dpc-5771 3 55 china china PROPN dpc-5771 3 56 key key ADJ dpc-5771 3 57 words word NOUN dpc-5771 3 58 : : PUNCT dpc-5771 3 59 pigmentary pigmentary ADJ dpc-5771 3 60 disorder disorder NOUN dpc-5771 3 61 , , PUNCT dpc-5771 3 62 legius legius ADJ dpc-5771 3 63 syndrome syndrome NOUN dpc-5771 3 64 citation citation NOUN dpc-5771 3 65 : : PUNCT dpc-5771 3 66 wang wang PROPN dpc-5771 3 67 l l PROPN dpc-5771 3 68 , , PUNCT dpc-5771 3 69 wu wu PROPN dpc-5771 3 70 y y PROPN dpc-5771 3 71 , , PUNCT dpc-5771 3 72 xu xu PROPN dpc-5771 4 1 w w PROPN dpc-5771 4 2 , , PUNCT dpc-5771 4 3 tan tan PROPN dpc-5771 4 4 c. c. PROPN dpc-5771 4 5 legius legius PROPN dpc-5771 4 6 syndrome syndrome NOUN dpc-5771 4 7 : : PUNCT dpc-5771 4 8 a a DET dpc-5771 4 9 clinical clinical ADJ dpc-5771 4 10 observation observation NOUN dpc-5771 4 11 of of ADP dpc-5771 4 12 a a DET dpc-5771 4 13 father father NOUN dpc-5771 4 14 - - PUNCT dpc-5771 4 15 son son NOUN dpc-5771 4 16 pair pair NOUN dpc-5771 4 17 . . PUNCT dpc-5771 5 1 dermatol dermatol NOUN dpc-5771 5 2 pract pract PROPN dpc-5771 5 3 concept concept NOUN dpc-5771 5 4 . . PUNCT dpc-5771 6 1 2025;15(4):5771 2025;15(4):5771 NUM dpc-5771 6 2 . . PUNCT dpc-5771 7 1 doi doi NOUN dpc-5771 7 2 : : PUNCT dpc-5771 7 3 https://doi.org/10.5826/dpc.1504a5771 https://doi.org/10.5826/dpc.1504a5771 PROPN dpc-5771 7 4 accepted accept VERB dpc-5771 7 5 : : PUNCT dpc-5771 7 6 april april PROPN dpc-5771 7 7 22 22 NUM dpc-5771 7 8 , , PUNCT dpc-5771 7 9 2025 2025 NUM dpc-5771 7 10 ; ; PUNCT dpc-5771 7 11 published publish VERB dpc-5771 7 12 : : PUNCT dpc-5771 8 1 october october PROPN dpc-5771 8 2 2025 2025 NUM dpc-5771 8 3 copyright copyright NOUN dpc-5771 8 4 : : PUNCT dpc-5771 8 5 © © PROPN dpc-5771 8 6 2025 2025 NUM dpc-5771 8 7 wang wang PROPN dpc-5771 8 8 et et PROPN dpc-5771 8 9 al al PROPN dpc-5771 8 10 . . PUNCT dpc-5771 9 1 this this PRON dpc-5771 9 2 is be AUX dpc-5771 9 3 an an DET dpc-5771 9 4 open open ADJ dpc-5771 9 5 - - PUNCT dpc-5771 9 6 access access NOUN dpc-5771 9 7 article article NOUN dpc-5771 9 8 distributed distribute VERB dpc-5771 9 9 under under ADP dpc-5771 9 10 the the DET dpc-5771 9 11 terms term NOUN dpc-5771 9 12 of of ADP dpc-5771 9 13 the the DET dpc-5771 9 14 creative creative ADJ dpc-5771 9 15 commons common NOUN dpc-5771 9 16 attributionnoncommercial attributionnoncommercial ADJ dpc-5771 9 17 license license NOUN dpc-5771 9 18 ( ( PUNCT dpc-5771 9 19 by by ADP dpc-5771 9 20 - - PUNCT dpc-5771 9 21 nc-4.0 nc-4.0 NOUN dpc-5771 9 22 ) ) PUNCT dpc-5771 9 23 , , PUNCT dpc-5771 9 24 https://creativecommons.org/licenses/by-nc/4.0/ https://creativecommons.org/licenses/by-nc/4.0/ PROPN dpc-5771 9 25 , , PUNCT dpc-5771 9 26 which which PRON dpc-5771 9 27 permits permit VERB dpc-5771 9 28 unrestricted unrestricted ADJ dpc-5771 9 29 noncommercial noncommercial ADJ dpc-5771 9 30 use use NOUN dpc-5771 9 31 , , PUNCT dpc-5771 9 32 distribution distribution NOUN dpc-5771 9 33 , , PUNCT dpc-5771 9 34 and and CCONJ dpc-5771 9 35 reproduction reproduction NOUN dpc-5771 9 36 in in ADP dpc-5771 9 37 any any DET dpc-5771 9 38 medium medium NOUN dpc-5771 9 39 , , PUNCT dpc-5771 9 40 provided provide VERB dpc-5771 9 41 the the DET dpc-5771 9 42 original original ADJ dpc-5771 9 43 authors author NOUN dpc-5771 9 44 and and CCONJ dpc-5771 9 45 source source NOUN dpc-5771 9 46 are be AUX dpc-5771 9 47 credited credit VERB dpc-5771 9 48 . . PUNCT dpc-5771 10 1 funding funding NOUN dpc-5771 10 2 : : PUNCT dpc-5771 10 3 none none NOUN dpc-5771 10 4 . . PUNCT dpc-5771 11 1 competing compete VERB dpc-5771 11 2 interests interest NOUN dpc-5771 11 3 : : PUNCT dpc-5771 11 4 none none NOUN dpc-5771 11 5 . . PUNCT dpc-5771 12 1 authorship authorship NOUN dpc-5771 12 2 : : PUNCT dpc-5771 12 3 all all DET dpc-5771 12 4 authors author NOUN dpc-5771 12 5 have have AUX dpc-5771 12 6 contributed contribute VERB dpc-5771 12 7 significantly significantly ADV dpc-5771 12 8 to to ADP dpc-5771 12 9 this this DET dpc-5771 12 10 publication publication NOUN dpc-5771 12 11 . . PUNCT dpc-5771 13 1 corresponding correspond VERB dpc-5771 13 2 author author NOUN dpc-5771 13 3 : : PUNCT dpc-5771 13 4 cheng cheng PROPN dpc-5771 13 5 tan tan PROPN dpc-5771 13 6 , , PUNCT dpc-5771 13 7 md md PROPN dpc-5771 13 8 , , PUNCT dpc-5771 13 9 affiliated affiliated ADJ dpc-5771 13 10 hospital hospital NOUN dpc-5771 13 11 of of ADP dpc-5771 13 12 nanjing nanjing PROPN dpc-5771 13 13 university university PROPN dpc-5771 13 14 of of ADP dpc-5771 13 15 chinese chinese ADJ dpc-5771 13 16 medicine medicine NOUN dpc-5771 13 17 , , PUNCT dpc-5771 13 18 155 155 NUM dpc-5771 13 19 hanzhong hanzhong NOUN dpc-5771 13 20 road road NOUN dpc-5771 13 21 , , PUNCT dpc-5771 13 22 nanjing nanjing PROPN dpc-5771 13 23 , , PUNCT dpc-5771 13 24 china china PROPN dpc-5771 13 25 , , PUNCT dpc-5771 13 26 210029 210029 NUM dpc-5771 13 27 . . PUNCT dpc-5771 14 1 orcid orcid NOUN dpc-5771 14 2 : : PUNCT dpc-5771 14 3 0000 0000 NUM dpc-5771 14 4 - - PUNCT dpc-5771 14 5 0002 0002 NUM dpc-5771 14 6 - - PUNCT dpc-5771 14 7 8764 8764 NUM dpc-5771 14 8 - - PUNCT dpc-5771 14 9 2078 2078 NUM dpc-5771 14 10 . . PUNCT dpc-5771 15 1 e e X dpc-5771 15 2 - - NOUN dpc-5771 15 3 mail mail NOUN dpc-5771 15 4 : : PUNCT dpc-5771 15 5 tancheng@yeah.net tancheng@yeah.net NOUN dpc-5771 15 6 case case NOUN dpc-5771 15 7 presentation presentation NOUN dpc-5771 15 8 a a DET dpc-5771 15 9 3 3 NUM dpc-5771 15 10 - - PUNCT dpc-5771 15 11 year year NOUN dpc-5771 15 12 - - PUNCT dpc-5771 15 13 old old ADJ dpc-5771 15 14 male male NOUN dpc-5771 15 15 was be AUX dpc-5771 15 16 referred refer VERB dpc-5771 15 17 to to ADP dpc-5771 15 18 our our PRON dpc-5771 15 19 clinic clinic NOUN dpc-5771 15 20 to to PART dpc-5771 15 21 evaluate evaluate VERB dpc-5771 15 22 multiple multiple ADJ dpc-5771 15 23 café café NOUN dpc-5771 15 24 - - PUNCT dpc-5771 15 25 au au ADP dpc-5771 15 26 - - PUNCT dpc-5771 15 27 lait lait ADJ dpc-5771 15 28 macules macule NOUN dpc-5771 15 29 ( ( PUNCT dpc-5771 15 30 calms calm NOUN dpc-5771 15 31 ) ) PUNCT dpc-5771 15 32 present present ADJ dpc-5771 15 33 since since SCONJ dpc-5771 15 34 birth birth NOUN dpc-5771 15 35 . . PUNCT dpc-5771 16 1 his his PRON dpc-5771 16 2 growth growth NOUN dpc-5771 16 3 and and CCONJ dpc-5771 16 4 developmental developmental ADJ dpc-5771 16 5 milestones milestone NOUN dpc-5771 16 6 were be AUX dpc-5771 16 7 age age NOUN dpc-5771 16 8 - - PUNCT dpc-5771 16 9 appropriate appropriate ADJ dpc-5771 16 10 , , PUNCT dpc-5771 16 11 with with SCONJ dpc-5771 16 12 no no DET dpc-5771 16 13 other other ADJ dpc-5771 16 14 abnormality abnormality NOUN dpc-5771 16 15 observed observe VERB dpc-5771 16 16 . . PUNCT dpc-5771 17 1 ( ( PUNCT dpc-5771 17 2 figure figure NOUN dpc-5771 17 3 1a 1a NOUN dpc-5771 17 4 ) ) PUNCT dpc-5771 17 5 . . PUNCT dpc-5771 18 1 the the DET dpc-5771 18 2 family family NOUN dpc-5771 18 3 history history NOUN dpc-5771 18 4 was be AUX dpc-5771 18 5 significant significant ADJ dpc-5771 18 6 as as SCONJ dpc-5771 18 7 the the DET dpc-5771 18 8 patient patient NOUN dpc-5771 18 9 ’s ’s PART dpc-5771 18 10 father father NOUN dpc-5771 18 11 exhibited exhibit VERB dpc-5771 18 12 multiple multiple ADJ dpc-5771 18 13 calms calm NOUN dpc-5771 18 14 , , PUNCT dpc-5771 18 15 axillary axillary ADJ dpc-5771 18 16 freckling freckling NOUN dpc-5771 18 17 ( ( PUNCT dpc-5771 18 18 figures figure NOUN dpc-5771 18 19 1b 1b NUM dpc-5771 18 20 and and CCONJ dpc-5771 18 21 1d 1d NUM dpc-5771 18 22 ) ) PUNCT dpc-5771 18 23 , , PUNCT dpc-5771 18 24 and and CCONJ dpc-5771 18 25 several several ADJ dpc-5771 18 26 subcutaneous subcutaneous ADJ dpc-5771 18 27 lipomas lipoma NOUN dpc-5771 18 28 confirmed confirm VERB dpc-5771 18 29 by by ADP dpc-5771 18 30 ultrasound ultrasound NOUN dpc-5771 18 31 ( ( PUNCT dpc-5771 18 32 figure figure NOUN dpc-5771 18 33 1e 1e PROPN dpc-5771 18 34 ) ) PUNCT dpc-5771 18 35 . . PUNCT dpc-5771 19 1 genetic genetic ADJ dpc-5771 19 2 testing testing NOUN dpc-5771 19 3 revealed reveal VERB dpc-5771 19 4 a a DET dpc-5771 19 5 heterozygous heterozygous ADJ dpc-5771 19 6 frameshift frameshift NOUN dpc-5771 19 7 mutation mutation NOUN dpc-5771 19 8 in in ADP dpc-5771 19 9 exon exon NOUN dpc-5771 19 10 7 7 NUM dpc-5771 19 11 of of ADP dpc-5771 19 12 the the DET dpc-5771 19 13     SPACE dpc-5771 19 14 spred1 spred1 PROPN dpc-5771 19 15     SPACE dpc-5771 19 16 gene gene NOUN dpc-5771 19 17 ( ( PUNCT dpc-5771 19 18 nm_152594 nm_152594 NOUN dpc-5771 19 19 : : PUNCT dpc-5771 19 20 c c NOUN dpc-5771 19 21     SPACE dpc-5771 19 22 .1149_1152delagag .1149_1152delagag ADV dpc-5771 19 23 , , PUNCT dpc-5771 19 24 p.g385ifs*20 p.g385ifs*20 PROPN dpc-5771 19 25 ) ) PUNCT dpc-5771 19 26 . . PUNCT dpc-5771 20 1 this this DET dpc-5771 20 2 mutation mutation NOUN dpc-5771 20 3 was be AUX dpc-5771 20 4 also also ADV dpc-5771 20 5 detected detect VERB dpc-5771 20 6 in in ADP dpc-5771 20 7 the the DET dpc-5771 20 8 affected affected ADJ dpc-5771 20 9 father father NOUN dpc-5771 20 10 , , PUNCT dpc-5771 20 11 but but CCONJ dpc-5771 20 12 absent absent ADJ dpc-5771 20 13 in in ADP dpc-5771 20 14 the the DET dpc-5771 20 15 mother mother NOUN dpc-5771 20 16 ( ( PUNCT dpc-5771 20 17 figures figure NOUN dpc-5771 20 18 1f 1f NUM dpc-5771 20 19 – – PUNCT dpc-5771 20 20 h h NOUN dpc-5771 20 21 ) ) PUNCT dpc-5771 20 22 , , PUNCT dpc-5771 20 23 confirming confirm VERB dpc-5771 20 24 legius legius ADJ dpc-5771 20 25 syndrome syndrome NOUN dpc-5771 20 26 . . PUNCT dpc-5771 21 1 teaching teaching NOUN dpc-5771 21 2 point point NOUN dpc-5771 21 3 legius legius PRON dpc-5771 21 4 syndrome syndrome NOUN dpc-5771 21 5 is be AUX dpc-5771 21 6 an an DET dpc-5771 21 7 autosomal autosomal ADJ dpc-5771 21 8 dominant dominant ADJ dpc-5771 21 9 disorder disorder NOUN dpc-5771 21 10 caused cause VERB dpc-5771 21 11 by by ADP dpc-5771 21 12 germline germline NOUN dpc-5771 21 13 loss loss NOUN dpc-5771 21 14 - - PUNCT dpc-5771 21 15 of of ADP dpc-5771 21 16 - - PUNCT dpc-5771 21 17 function function NOUN dpc-5771 21 18 mutations mutation NOUN dpc-5771 21 19 in in ADP dpc-5771 21 20 the the DET dpc-5771 21 21     SPACE dpc-5771 21 22 spred1 spred1 PROPN dpc-5771 21 23     SPACE dpc-5771 21 24 gene gene NOUN dpc-5771 21 25 . . PUNCT dpc-5771 22 1 the the DET dpc-5771 22 2 clinical clinical ADJ dpc-5771 22 3 features feature NOUN dpc-5771 22 4 include include VERB dpc-5771 22 5 multiple multiple ADJ dpc-5771 22 6 calms calm NOUN dpc-5771 22 7 , , PUNCT dpc-5771 22 8 with with ADP dpc-5771 22 9 or or CCONJ dpc-5771 22 10 without without ADP dpc-5771 22 11 associated associated ADJ dpc-5771 22 12 intertriginous intertriginous ADJ dpc-5771 22 13 freckling freckling NOUN dpc-5771 23 1 [ [ X dpc-5771 23 2 1 1 NUM dpc-5771 23 3 ] ] PUNCT dpc-5771 23 4 . . PUNCT dpc-5771 24 1 associated associated PROPN dpc-5771 24 2 findings finding NOUN dpc-5771 24 3 may may AUX dpc-5771 24 4 encompass encompass VERB dpc-5771 24 5 lipomas lipoma NOUN dpc-5771 24 6 , , PUNCT dpc-5771 24 7 macrocephaly macrocephaly PROPN dpc-5771 24 8 , , PUNCT dpc-5771 24 9 or or CCONJ dpc-5771 24 10 neurodevelopmental neurodevelopmental ADJ dpc-5771 24 11 manifestations manifestation NOUN dpc-5771 24 12 , , PUNCT dpc-5771 24 13 including include VERB dpc-5771 24 14 learning learn VERB dpc-5771 24 15 disabilities disability NOUN dpc-5771 24 16 , , PUNCT dpc-5771 24 17 attention attention NOUN dpc-5771 24 18 - - PUNCT dpc-5771 24 19 deficit deficit NOUN dpc-5771 24 20 / / SYM dpc-5771 24 21 hyperactivity hyperactivity NOUN dpc-5771 24 22 disorder disorder NOUN dpc-5771 24 23 ( ( PUNCT dpc-5771 24 24 adhd adhd NOUN dpc-5771 24 25 ) ) PUNCT dpc-5771 24 26 , , PUNCT dpc-5771 24 27 and and CCONJ dpc-5771 24 28 mild mild ADJ dpc-5771 24 29 developmental developmental ADJ dpc-5771 24 30 delays delay NOUN dpc-5771 24 31 [ [ X dpc-5771 24 32 2 2 NUM dpc-5771 24 33 ] ] PUNCT dpc-5771 24 34 . . PUNCT dpc-5771 25 1 in in ADP dpc-5771 25 2 contrast contrast NOUN dpc-5771 25 3 to to ADP dpc-5771 25 4 neurofibromatosis neurofibromatosis NOUN dpc-5771 25 5 type type NOUN dpc-5771 25 6 1 1 NUM dpc-5771 25 7 ( ( PUNCT dpc-5771 25 8 nf1 nf1 NOUN dpc-5771 25 9 ) ) PUNCT dpc-5771 25 10 , , PUNCT dpc-5771 25 11 legius legius DET dpc-5771 25 12 syndrome syndrome NOUN dpc-5771 25 13 is be AUX dpc-5771 25 14 characterized characterize VERB dpc-5771 25 15 by by ADP dpc-5771 25 16 the the DET dpc-5771 25 17 absence absence NOUN dpc-5771 25 18 of of ADP dpc-5771 25 19 tumorigenic tumorigenic ADJ dpc-5771 25 20 manifestations manifestation NOUN dpc-5771 25 21 such such ADJ dpc-5771 25 22 as as ADP dpc-5771 25 23 neurofibromas neurofibroma NOUN dpc-5771 25 24 and and CCONJ dpc-5771 25 25 optic optic ADJ dpc-5771 25 26 pathway pathway NOUN dpc-5771 25 27 gliomas glioma NOUN dpc-5771 25 28 , , PUNCT dpc-5771 25 29 and and CCONJ dpc-5771 25 30 it it PRON dpc-5771 25 31 is be AUX dpc-5771 25 32 associated associate VERB dpc-5771 25 33 with with ADP dpc-5771 25 34 a a DET dpc-5771 25 35 milder mild ADJ dpc-5771 25 36 clinical clinical ADJ dpc-5771 25 37 phenotype phenotype NOUN dpc-5771 25 38 . . PUNCT dpc-5771 26 1 current current ADJ dpc-5771 26 2 clinical clinical ADJ dpc-5771 26 3 guidelines guideline NOUN dpc-5771 26 4 highlight highlight VERB dpc-5771 26 5 the the DET dpc-5771 26 6 importance importance NOUN dpc-5771 26 7 of of ADP dpc-5771 26 8 monitoring monitoring NOUN dpc-5771 26 9 and and CCONJ dpc-5771 26 10 managing manage VERB dpc-5771 26 11 neurodevelopmental neurodevelopmental ADJ dpc-5771 26 12 issues issue NOUN dpc-5771 26 13 , , PUNCT dpc-5771 26 14 given give VERB dpc-5771 26 15 that that SCONJ dpc-5771 26 16 there there PRON dpc-5771 26 17 is be VERB dpc-5771 26 18 no no DET dpc-5771 26 19 targeted target VERB dpc-5771 26 20 therapy therapy NOUN dpc-5771 26 21 available available ADJ dpc-5771 26 22 for for ADP dpc-5771 26 23 cutaneous cutaneous ADJ dpc-5771 26 24 lesions lesion NOUN dpc-5771 26 25 . . PUNCT dpc-5771 27 1 accurate accurate ADJ dpc-5771 27 2 diagnosis diagnosis NOUN dpc-5771 27 3 is be AUX dpc-5771 27 4 essential essential ADJ dpc-5771 27 5 for for ADP dpc-5771 27 6 distinguishing distinguish VERB dpc-5771 27 7 legius legius ADJ dpc-5771 27 8 syndrome syndrome NOUN dpc-5771 27 9 from from ADP dpc-5771 27 10 nf1 nf1 NOUN dpc-5771 27 11 , , PUNCT dpc-5771 27 12 thereby thereby ADV dpc-5771 27 13 preventing prevent VERB dpc-5771 27 14 unnecessary unnecessary ADJ dpc-5771 27 15 surveillance surveillance NOUN dpc-5771 27 16 measures measure NOUN dpc-5771 27 17 such such ADJ dpc-5771 27 18 as as ADP dpc-5771 27 19 tumor tumor NOUN dpc-5771 27 20 screening screening NOUN dpc-5771 27 21 and and CCONJ dpc-5771 27 22 mitigating mitigate VERB dpc-5771 27 23 familial familial ADJ dpc-5771 27 24 anxiety anxiety NOUN dpc-5771 27 25 associated associate VERB dpc-5771 27 26 with with ADP dpc-5771 27 27 nf1 nf1 NOUN dpc-5771 27 28 - - PUNCT dpc-5771 27 29 related relate VERB dpc-5771 27 30 complications complication NOUN dpc-5771 27 31 . . PUNCT dpc-5771 28 1 genetic genetic ADJ dpc-5771 28 2 counseling counseling NOUN dpc-5771 28 3 and and CCONJ dpc-5771 28 4 prenatal prenatal ADJ dpc-5771 28 5 testing testing NOUN dpc-5771 28 6 should should AUX dpc-5771 28 7 be be AUX dpc-5771 28 8 made make VERB dpc-5771 28 9 available available ADJ dpc-5771 28 10 to to ADP dpc-5771 28 11 affected affected ADJ dpc-5771 28 12 families family NOUN dpc-5771 28 13 . . PUNCT dpc-5771 29 1 2 2 NUM dpc-5771 29 2 image image NOUN dpc-5771 29 3 letter letter NOUN dpc-5771 29 4 | | ADV dpc-5771 29 5 dermatol dermatol ADJ dpc-5771 29 6 pract pract NOUN dpc-5771 29 7 concept concept NOUN dpc-5771 29 8 . . PUNCT dpc-5771 30 1 2025;15(4):5771 2025;15(4):5771 NUM dpc-5771 30 2 figure figure NOUN dpc-5771 30 3 1 1 NUM dpc-5771 30 4 . . PUNCT dpc-5771 31 1 clinical clinical ADJ dpc-5771 31 2 features feature NOUN dpc-5771 31 3 included include VERB dpc-5771 31 4 café café NOUN dpc-5771 31 5 - - PUNCT dpc-5771 31 6 au au ADP dpc-5771 31 7 - - ADJ dpc-5771 31 8 lait lait ADJ dpc-5771 31 9 macules macule NOUN dpc-5771 31 10 in in ADP dpc-5771 31 11 the the DET dpc-5771 31 12 patient patient NOUN dpc-5771 31 13 ( ( PUNCT dpc-5771 31 14 a a NOUN dpc-5771 31 15 ) ) PUNCT dpc-5771 31 16 and and CCONJ dpc-5771 31 17 café café NOUN dpc-5771 31 18 - - PUNCT dpc-5771 31 19 au au ADP dpc-5771 31 20 - - ADJ dpc-5771 31 21 lait lait ADJ dpc-5771 31 22 macules macule NOUN dpc-5771 31 23 with with ADP dpc-5771 31 24 facial facial ADJ dpc-5771 31 25 freckles freckle NOUN dpc-5771 31 26 in in ADP dpc-5771 31 27 the the DET dpc-5771 31 28 father father NOUN dpc-5771 31 29 ( ( PUNCT dpc-5771 31 30 b b X dpc-5771 31 31 – – PUNCT dpc-5771 31 32 d).ultrasound d).ultrasound PROPN dpc-5771 31 33 examination examination NOUN dpc-5771 31 34 of of ADP dpc-5771 31 35 the the DET dpc-5771 31 36 father father NOUN dpc-5771 31 37 ’s ’s PART dpc-5771 31 38 right right ADJ dpc-5771 31 39 flank flank NOUN dpc-5771 31 40 revealed reveal VERB dpc-5771 31 41 a a DET dpc-5771 31 42 slightly slightly ADV dpc-5771 31 43 hyperechoic hyperechoic ADJ dpc-5771 31 44 region region NOUN dpc-5771 31 45 ( ( PUNCT dpc-5771 31 46 28 28 NUM dpc-5771 31 47 mm mm NOUN dpc-5771 31 48 × × NOUN dpc-5771 31 49 7 7 NUM dpc-5771 31 50 mm mm NOUN dpc-5771 31 51 ) ) PUNCT dpc-5771 31 52 with with ADP dpc-5771 31 53 well well ADV dpc-5771 31 54 - - PUNCT dpc-5771 31 55 defined define VERB dpc-5771 31 56 margins margin NOUN dpc-5771 31 57 and and CCONJ dpc-5771 31 58 clear clear ADJ dpc-5771 31 59 demarcation demarcation NOUN dpc-5771 31 60 from from ADP dpc-5771 31 61 surrounding surround VERB dpc-5771 31 62 tissues tissue NOUN dpc-5771 31 63 , , PUNCT dpc-5771 31 64 consistent consistent ADJ dpc-5771 31 65 with with ADP dpc-5771 31 66 lipomas lipoma NOUN dpc-5771 31 67 ( ( PUNCT dpc-5771 31 68 e e NOUN dpc-5771 31 69 ) ) PUNCT dpc-5771 31 70 . . PUNCT dpc-5771 32 1 the the DET dpc-5771 32 2 patient patient NOUN dpc-5771 32 3 harbored harbor VERB dpc-5771 32 4 a a DET dpc-5771 32 5 heterozygous heterozygous ADJ dpc-5771 32 6 frameshift frameshift NOUN dpc-5771 32 7 mutation mutation NOUN dpc-5771 32 8 , , PUNCT dpc-5771 32 9 c.1149_1152delagag c.1149_1152delagag PROPN dpc-5771 32 10 ( ( PUNCT dpc-5771 32 11 p.g385ifs*20 p.g385ifs*20 PROPN dpc-5771 32 12 ) ) PUNCT dpc-5771 32 13 , , PUNCT dpc-5771 32 14 in in ADP dpc-5771 32 15 exon exon NOUN dpc-5771 32 16 7 7 NUM dpc-5771 32 17 of of ADP dpc-5771 32 18 the the DET dpc-5771 32 19     SPACE dpc-5771 32 20 spred1 spred1 PROPN dpc-5771 32 21     SPACE dpc-5771 32 22 gene gene NOUN dpc-5771 32 23 ( ( PUNCT dpc-5771 32 24 f f NOUN dpc-5771 32 25 ) ) PUNCT dpc-5771 32 26 . . PUNCT dpc-5771 33 1 this this DET dpc-5771 33 2 mutation mutation NOUN dpc-5771 33 3 was be AUX dpc-5771 33 4 identified identify VERB dpc-5771 33 5 in in ADP dpc-5771 33 6 his his PRON dpc-5771 33 7 father father NOUN dpc-5771 33 8 ( ( PUNCT dpc-5771 33 9 g g NOUN dpc-5771 33 10 ) ) PUNCT dpc-5771 33 11 but but CCONJ dpc-5771 33 12 absent absent ADJ dpc-5771 33 13 in in ADP dpc-5771 33 14 his his PRON dpc-5771 33 15 mother mother NOUN dpc-5771 33 16 ( ( PUNCT dpc-5771 33 17 h h NOUN dpc-5771 33 18 ) ) PUNCT dpc-5771 33 19 . . PUNCT dpc-5771 34 1 references reference NOUN dpc-5771 34 2 1 1 NUM dpc-5771 34 3 . . X dpc-5771 35 1 legius legius PROPN dpc-5771 35 2 e e PROPN dpc-5771 35 3 , , PUNCT dpc-5771 35 4 messiaen messiaen PROPN dpc-5771 35 5 l l PROPN dpc-5771 35 6 , , PUNCT dpc-5771 35 7 wolkenstein wolkenstein NOUN dpc-5771 35 8 p p NOUN dpc-5771 35 9 , , PUNCT dpc-5771 35 10 et et PROPN dpc-5771 35 11 al al PROPN dpc-5771 35 12 . . PROPN dpc-5771 35 13 revised revise VERB dpc-5771 35 14 diagnostic diagnostic ADJ dpc-5771 35 15 criteria criterion NOUN dpc-5771 35 16 for for ADP dpc-5771 35 17 neurofibromatosis neurofibromatosis NOUN dpc-5771 35 18 type type NOUN dpc-5771 35 19 1 1 NUM dpc-5771 35 20 and and CCONJ dpc-5771 35 21 legius legius ADJ dpc-5771 35 22 syndrome syndrome NOUN dpc-5771 35 23 : : PUNCT dpc-5771 35 24 an an DET dpc-5771 35 25 international international ADJ dpc-5771 35 26 consensus consensus NOUN dpc-5771 35 27 recommendation recommendation NOUN dpc-5771 35 28 . . PUNCT dpc-5771 36 1 genet genet PROPN dpc-5771 36 2 med med PROPN dpc-5771 36 3 . . PUNCT dpc-5771 37 1 2021;23(8):1506 2021;23(8):1506 NUM dpc-5771 37 2 - - PUNCT dpc-5771 37 3 1513.doi:10.1038 1513.doi:10.1038 NUM dpc-5771 37 4 / / SYM dpc-5771 37 5 s41436 s41436 NOUN dpc-5771 37 6 - - PUNCT dpc-5771 37 7 021 021 NUM dpc-5771 37 8 - - PUNCT dpc-5771 37 9 01170 01170 NUM dpc-5771 37 10 - - PUNCT dpc-5771 37 11 5 5 NUM dpc-5771 37 12 . . PUNCT dpc-5771 38 1 pmid pmid NOUN dpc-5771 38 2 : : PUNCT dpc-5771 38 3 34012067 34012067 NUM dpc-5771 38 4 . . PUNCT dpc-5771 39 1 2 2 X dpc-5771 39 2 . . X dpc-5771 39 3 pabst pabst PROPN dpc-5771 39 4 l l PROPN dpc-5771 39 5 , , PUNCT dpc-5771 39 6 carroll carroll PROPN dpc-5771 39 7 j j PROPN dpc-5771 39 8 , , PUNCT dpc-5771 39 9 lo lo PROPN dpc-5771 39 10 w w PROPN dpc-5771 39 11 , , PUNCT dpc-5771 39 12 truxal truxal PROPN dpc-5771 39 13 kv kv PROPN dpc-5771 39 14 . . PUNCT dpc-5771 40 1 moyamoya moyamoya PROPN dpc-5771 40 2 syndrome syndrome NOUN dpc-5771 40 3 in in ADP dpc-5771 40 4 a a DET dpc-5771 40 5 child child NOUN dpc-5771 40 6 with with ADP dpc-5771 40 7 legius legius ADJ dpc-5771 40 8 syndrome syndrome NOUN dpc-5771 40 9 : : PUNCT dpc-5771 40 10 introducing introduce VERB dpc-5771 40 11 a a DET dpc-5771 40 12 cerebral cerebral ADJ dpc-5771 40 13 vasculopathy vasculopathy NOUN dpc-5771 40 14 to to ADP dpc-5771 40 15 the the DET dpc-5771 40 16 spred1 spred1 PROPN dpc-5771 40 17 phenotype phenotype NOUN dpc-5771 40 18 ? ? PUNCT dpc-5771 41 1 am be AUX dpc-5771 41 2 j j PROPN dpc-5771 41 3 med med PROPN dpc-5771 41 4 genet genet PROPN dpc-5771 41 5 a. a. PROPN dpc-5771 41 6 2021;185(1):223 2021;185(1):223 NUM dpc-5771 41 7 - - SYM dpc-5771 41 8 227 227 NUM dpc-5771 41 9 . . PUNCT dpc-5771 42 1 doi doi NOUN dpc-5771 42 2 : : PUNCT dpc-5771 42 3 10.1002 10.1002 NUM dpc-5771 42 4 / / SYM dpc-5771 42 5 ajmg.a.61921 ajmg.a.61921 NOUN dpc-5771 42 6 . . PUNCT dpc-5771 43 1 pmid pmid NOUN dpc-5771 43 2 : : PUNCT dpc-5771 43 3 33078527 33078527 NUM dpc-5771 43 4 . . PUNCT