Segmental neurofibromatosis in childhood

American Journal of Medical Genetics, Part A - Tập 121A Số 2 - Trang 132-135 - 2003
Robert Listernick1,2, Anthony J. Mancini3,1,4, Joel Charrow1,5
1Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois
2Division of General Academic Pediatrics, The Children's Memorial Hospital, Chicago, Illinois, Chicago, Illinois
3Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois
4Division of Dermatology, The Children's Memorial Hospital, Chicago, Illinois
5Division of Genetics, The Children's Memorial Hospital, Chicago, Illinois

Tóm tắt

Abstract

Segmental neurofibromatosis refers to individuals who have manifestations of neurofibromatosis type 1 (NF‐1) limited to one area of the body. It results from a post‐conceptional mutation in the NF‐1 gene leading to somatic mosaicism. Although it is generally considered a rare condition, this report of 39 children with segmental NF‐1 demonstrates that it is commonly seen in a pediatric NF‐1 referral center. The mean age at diagnosis was 7.8 years (range: 2–25 years). Twenty‐nine patients had only pigmentary manifestations of segmental NF‐1, including seven who had only café‐au‐lait macules and 22 who had café‐au‐lait macules and freckling. Two patients had isolated plexiform neurofibromas; a third patient had a plexiform neurofibroma of the eyelid in addition to ipsilateral dysplasia of the sphenoid wing and Lisch nodules. A 12‐year‐old girl had an isolated tibial pseudarthrosis. An 8‐year‐old boy had an isolated optic pathway tumor, which behaved both biologically and radiographically as an NF1‐associated tumor. While most children with segmental NF‐1 have only localized pigmentary changes, some children will have isolated plexiform neurofibromas, pseudarthroses, or optic pathway tumors. Accurate diagnosis of segmental NF‐1 is crucial for both management and genetic counseling. © 2003 Wiley‐Liss, Inc.

Từ khóa


Tài liệu tham khảo

Boltshauser E, 1989, Neurofibromatosis type I in a child of a parent with segmental neurofibromatosis (NF‐5), Neurofibromatosis, 2, 244

10.1542/peds.105.3.608

10.1212/WNL.54.8.1646

Huson SM, 2000, Textbook of pediatric dermatology, 1204

10.1001/archderm.131.8.959

10.1056/NEJM199411243312102

10.1016/S0022-3476(05)80639-0

10.1016/S0022-3476(94)70122-9

10.1016/S0022-3476(95)70159-1

10.1002/ana.410410204

Miller RM, 1977, Segmental neurofibromatosis, Arch Dermatol, 113, 837, 10.1001/archderm.1977.01640060133020

10.1111/j.1365-2133.1994.tb06893.x

National Institutes of Health.1987.Neurofibromatosis. National Institutes of Health Consensus Development Conference Statement. Bethesda MD: The Institutes.

Obringer AC, 1989, The diagnosis of neurofibromatosis‐1 in the child under the age of 6 years, AJDC, 143, 717

10.1007/s002560000234

10.1016/S0002-9440(10)61673-2

Riccardi VM, 1986, Neurofibromatosis: Phenotype, natural history, and pathogenesis, 169

Roth RR, 1987, Segmental neurofibromatosis, Arch Dermatol, 123, 917, 10.1001/archderm.1987.01660310085020

Rubenstein A, 1983, Familial transmission of segmental neurofibromatosis, Neurology, 33, 76

10.1002/ajmg.1332

10.1212/WNL.56.11.1433

10.3171/jns.2000.92.2.0342

10.1016/0190-9622(90)70065-P

10.1038/sj.ejhg.5200493

10.1016/0190-9622(90)70306-3

10.1097/00003086-200208000-00013

Weleber RG, 1983, Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis, Arch Ophthalmol, 96, 740

Wolkenstein P, 1995, More on the frequency of segmental neurofibromatosis, Arch Dermatol, 131, 1465, 10.1001/archderm.1995.01690240131030

Thông tin
Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 121A Số 2

132-135

Thông tin tác giả