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Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis.

作者信息

Mücke J, Willgerodt H, Künzel R, Brock D

出版信息

Eur J Pediatr. 1985 Mar;143(4):320-3. doi: 10.1007/BF00442313.

DOI:10.1007/BF00442313
PMID:3987735
Abstract

In 1983 the Proteus syndrome was delineated by Wiedemann et al. [12]. We report a 10-month-old girl, a further child affected by the new syndrome. The typical signs are macrodactyly, hemihypertrophy, pigmented nevi, hyperkeratosis, and subcutaneous hamartomatous tumours. Our patient shows an aggressive lipomatosis on the trunk and local relapses after surgical interventions in the regions involved. Histology of the adipose tissue showed considerable anisocytosis and increased cell volume.

摘要

相似文献

1
Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis.
Eur J Pediatr. 1985 Mar;143(4):320-3. doi: 10.1007/BF00442313.
2
Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature.巨指症、半侧肥大和结缔组织痣:一种新综合征的报告及文献综述。
J Pediatr. 1976 Dec;89(6):924-7. doi: 10.1016/s0022-3476(76)80597-5.
3
Bannayan syndrome--generalized lipomatosis associated with megalencephaly and macrodactyly.班纳扬综合征——与巨头畸形和巨指(趾)症相关的全身性脂肪瘤病。
Acta Pathol Jpn. 1986 Feb;36(2):269-77. doi: 10.1111/j.1440-1827.1986.tb01479.x.
4
Proteus syndrome.
Arch Dermatol. 1989 Aug;125(8):1109-14.
5
Proteus syndrome. Ultrastructural study of linear verrucous and depigmented nevi.
J Am Acad Dermatol. 1991 Aug;25(2 Pt 2):377-83.
6
[Proteus syndrome].
Hautarzt. 1991 Mar;42(3):186-8.
7
Macrodactyly and the epidermal nevus syndrome.巨指(趾)症与表皮痣综合征
J Hand Surg Am. 1987 Sep;12(5 Pt 1):730-3. doi: 10.1016/s0363-5023(87)80058-8.
8
A rare association of epidermal nevus syndrome and ainhum-like digital constrictions.表皮痣综合征与类阿洪病性指(趾)缩窄的罕见关联。
Pediatr Dermatol. 2002 Jul-Aug;19(4):349-52. doi: 10.1046/j.1525-1470.2002.00101.x.
9
Cutaneous manifestations of the Proteus syndrome.
Pediatr Dermatol. 1988 Feb;5(1):14-21. doi: 10.1111/j.1525-1470.1988.tb00878.x.
10
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.节段性过度生长、脂肪瘤病、动静脉畸形和表皮痣(SOLAMEN)综合征与镶嵌型PTEN基因纯合缺失有关。
Eur J Hum Genet. 2007 Jul;15(7):767-73. doi: 10.1038/sj.ejhg.5201823. Epub 2007 Mar 28.

引用本文的文献

1
Cutaneous manifestation of lethal genes.致死基因的皮肤表现
Hum Genet. 1986 Mar;72(3):280. doi: 10.1007/BF00291899.
2
Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.
Eur J Pediatr. 1988 Nov;148(2):122-5. doi: 10.1007/BF00445918.
3
Case report 509: Proteus syndrome.病例报告509:变形综合征。
Skeletal Radiol. 1988;17(7):536-8. doi: 10.1007/BF00364053.

本文引用的文献

1
The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors.班纳扬综合征:一种常染色体显性疾病,其特征包括巨头畸形、脂肪瘤、血管瘤以及颅内肿瘤风险。
Pediatrics. 1982 May;69(5):632-4.
2
The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.变形综合征。手部和/或足部部分巨人症、痣、半身肥大、皮下肿瘤、巨头畸形或其他颅骨异常,以及可能的生长加速和内脏病变。
Eur J Pediatr. 1983 Mar;140(1):5-12. doi: 10.1007/BF00661895.
3
4
Scintigraphic differentiation of congenital soft-tissue extremity enlargement with Tc-99m DTPA.
Skeletal Radiol. 1989;18(1):33-41. doi: 10.1007/BF00366770.
5
Cranial hemihypertrophy and neurodevelopmental prognosis.颅骨半侧肥大与神经发育预后。
J Med Genet. 1990 Mar;27(3):160-4. doi: 10.1136/jmg.27.3.160.
6
Pelvic lipomatosis in the Proteus syndrome: a further diagnostic sign.变形综合征中的盆腔脂肪过多症:一项进一步的诊断体征。
Eur J Pediatr. 1990 Sep;149(12):866. doi: 10.1007/BF02072076.
Congenital aggressive lipomatosis.
Skeletal Radiol. 1983;9(4):248-54. doi: 10.1007/BF00354126.
4
[Case of megalosyndactyly].[巨指并指畸形病例]
J Genet Hum. 1982 Dec;30 Suppl 5:393-401.
5
The study of genetic diseases and malformations.遗传性疾病和畸形的研究。
Birth Defects Orig Artic Ser. 1977;13(6):45-66.