Orthopaedic manifestations of neurofibromatosis type 1: A case report

被引：6

作者：

Nastase, Florentina ^{[1
]}

Radaschin, Diana Sabina ^{[2
,3
]}

Niculet, Elena ^{[4
,5
,6
]}

Bradeanu, Andrei Vlad ^{[4
]}

Verenca, Madalina Codruta ^{[1
]}

Nechita, Aurel ^{[7
]}

Chioncel, Valentin ^{[8
,9
]}

Nwabudike, Lawrence Chukwudi ^{[10
]}

Baroiu, Liliana ^{[2
,11
]}

Polea, Eduard Drima ^{[2
]}

Fotea, Silvia ^{[2
,6
]}

Anghel, Lucretia ^{[2
,12
]}

Nechifor, Alexandru ^{[2
]}

Tatu, Alin Laurentiu ^{[2
,3
,6
,13
]}

机构：

[1] Sf Ioan Clin Hosp Children, Dept Neuropsychomotor Rehabil, Galati 800487, Romania

[2] Univ Galatzi, Fac Med & Pharm, Clin Med Dept, Galati 800010, Romania

[3] Univ Galatzi, Res Ctr Field Med & Pharmaceut Sci, Galati 800010, Romania

[4] Univ Galatzi, Fac Med & Pharm, Dept Morphol & Funct Sci, 35 Al I Cuza St, Galati 800010, Romania

[5] Sf Apostol Andrei Emergency Clin Hosp, Dept Pathol, Galati 800578, Romania

[6] Univ Galatzi, Multidisciplinary Integrated Ctr Dermatol Interfa, Galati 800010, Romania

[7] Sf Ioan Clin Hosp Children, Dept Pediat, Galati 800487, Romania

[8] Carol Davila Univ Med & Pharm, Cardiothorac Dept, Bucharest 020021, Romania

[9] Bagdasar Arseni Emergency Hosp, Clin Cardiol Dept, Bucharest 041915, Romania

[10] N Paulescu Natl Inst Diabet, Dept Diabet Foot Care, Bucharest 011233, Romania

[11] Sf Cuvioasa Parascheva Clin Hosp Infect Dis, Infect Dis Dept 1, Galati 800179, Romania

[12] Sf Andrei Clin Emergency Hosp, Internal Med Dept, Galati 800578, Romania

[13] Sf Cuvioasa Parascheva Clin Hosp Infect Dis, Dermatol Dept, Galati 800179, Romania

来源：

EXPERIMENTAL AND THERAPEUTIC MEDICINE | 2022年 / 23卷 / 02期

关键词：

orthopaedic manifestations; neurofibromatosis type 1; von Recklinghausen disease; cafe-au-lait spots; pseudarthrosis; CONGENITAL PSEUDOARTHROSIS; DESCRIPTIVE ANALYSIS; TIBIA; CHILDREN; PSEUDARTHROSIS; PREVALENCE; GENE; DIAGNOSIS; HISTORY; CELLS;

D O I：

10.3892/etm.2021.11058

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is one of the most common autosomal dominant genetic diseases. It is characterized by 'cafe-au-lait' spots and multiple tumors starting from the central and peripheric nervous system. The diagnosis is determined on two out of seven criteria: i) A total of 6 or more light brown spots larger than 5 mm in diameter (pre-puberty) or 15 mm in diameter (post-puberty); ii) a total of 2 or more neurofibromas or one plexiform neurofibroma; iii) axillary or inguinal freckling; iv) optic glioma; v) a total of 2 or more Lisch nodules; vi) bone abnormalities: tibia pseudarthrosis or dysplasia of the sphenoid wing; and vii) a relative of first degree having an NF1 diagnosis. A total of similar to 50% of patients have significant musculoskeletal manifestation, with scoliosis and congenital pseudarthrosis of tibia most common. Management of the orthopaedic manifestations of NF1 is often difficult. Due to NF1 influencing multiple organ systems, patients are likely to benefit most from a multidisciplinary treatment strategy.

引用

页数：7

共 63 条

[1]

[Anonymous], 1988, Neurofibromatosis, V1, P172

[2] Neurofibromatosis: chronological history and current issues [J].

Antonio, Joao Roberto ;

Goloni-Bertollo, Eny Maria ;

Tridico, Livia Arroyo .

ANAIS BRASILEIROS DE DERMATOLOGIA, 2013, 88 (03) :329-343

[3]

Ardeleanu V, 2013, CHIRURGIA-BUCHAREST, V108, P580

[4] Current Pharmacological Treatment of Painful Diabetic Neuropathy: A Narrative Review [J].

Ardeleanu, Valeriu ;

Toma, Alexandra ;

Pafili, Kalliopi ;

Papanas, Nikolaos ;

Motofei, Ion ;

Diaconu, Camelia Cristina ;

Rizzo, Manfredi ;

Stoian, Anca Pantea .

MEDICINA-LITHUANIA, 2020, 56 (01)

[5] Congenital pseudarthrosis of the tibia associated with neurofibromatosis-1: Treatment with Ilizarov's device [J].

Boero, S ;

Catagni, M ;

Donzelli, O ;

Facchini, R ;

Frediani, PV .

JOURNAL OF PEDIATRIC ORTHOPAEDICS, 1997, 17 (05) :675-684

[6] Neurofibromatosis type 1 [J].

Boyd, Kevin P. ;

Korf, Bruce R. ;

Theos, Amy .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2009, 61 (01) :1-14

[7]

Crawford A H, 1999, J Am Acad Orthop Surg, V7, P217

[8] THE PROTEIN PRODUCT OF THE NEUROFIBROMATOSIS TYPE-1 GENE IS EXPRESSED AT HIGHEST ABUNDANCE IN NEURONS, SCHWANN-CELLS, AND OLIGODENDROCYTES [J].

DASTON, MM ;

SCRABLE, H ;

NORDLUND, M ;

STURBAUM, AK ;

NISSEN, LM ;

RATNER, N .

NEURON, 1992, 8 (03) :415-428

[9] Use of an intramedullary rod for treatment of congenital pseudarthrosis of the Tibia - A long-term follow-up study [J].

Dobbs, MB ;

Rich, MM ;

Gordon, JE ;

Szymanski, DA ;

Schoenecker, PL .

JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2004, 86A (06) :1186-1197

[10] Skeletal Abnormalities in Neurofibromatosis Type 1: Approaches to Therapeutic Options [J].

Elefteriou, Florent ;

Kolanczyk, Mateusz ;

Schindeler, Aaron ;

Viskochil, David H. ;

Hock, Janet M. ;

Schorry, Elizabeth K. ;

Crawford, Alvin H. ;

Friedman, Jan M. ;

Little, David ;

Peltonen, Juha ;

Carey, John C. ;

Feldman, David ;

Yu, Xijie ;

Armstrong, Linlea ;

Birch, Patricia ;

Kendler, David L. ;

Mundlos, Stefan ;

Yang, Fen-Chun ;

Agiostratidou, Gina ;

Hunter-Schaedle, Kim ;

Stevenson, David A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (10) :2327-2338

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