
B
Barraquer-Simons sendromu
Nedeni bilinmiyor (otoimmun hastalık kuşkusu)
Edinsel bir lipodistrofi türü
Baş-boyun ve yüz çevresi ile toraks yağ dokusunun progressif atrofisi
Diabetes mellitus
Hipertrigliseridemi
Hipokomplemantemi
Karaciğer yağlanması
Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. Journal of Human Genetics, 59(1):16-23, 2014
Simsek-Kiper PO, Roach E, Utine GE, Boduroglu K. Barraquer-Simons syndrome: a rare clinical entity. American Journal of Medical Genetics A, 164A(7):1756-1760, 2014
Akinci B, Koseoglu FD, Onay H, et al. Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. Metabolism, 64(9):1086-1095, 2015
H
H
J
M
M
N
N
R
R
Z
Zunich nöroektodermal sendromu (CHIME sendromu)
Kalıtsal
Brakisefali
Belirgin alın çıkıntısı
Oksiput düz
Ense kalın
Saçlar seyrek, ince ve soluk renkli
Kıvrık kulaklar
İşitme sorunları
Retinal koloboma
Hipertelorizm
Yayvan burun
Filtrum kısa
Kalın dudaklar
Yarık damak
Kesici dişlerde yarıklar
Fallot tetralojisi
Ventriküler septum defekti
Büyük damarlarda transpozisyon
Küçük meme uçları
Hidronefroz
Üreter anomalileri
Parmak anomalileri
Deride migratory ichthyosiform dermatosis
Avuçiçleri ve ayak tabanları derisi kalın
Zeka geriliği
Hipotoni
Epileptik ataklar
Serebral atrofi
Agresif davranışlar
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Zunich J, Esterly NB, Kaye CI. Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Archives of Dermatology, 124: 1188-1189, 1988
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Shashi V, Zunich J, Kelly TE, Fryburg JS. Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. Journal of Medical Genetics, 32: 465-469, 1995
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Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H. Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. Pediatic Dermatology, 13: 363-371, 1996
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Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics, 90: 685-688, 2012
Z
Zunich nöroektodermal sendromu (CHIME sendromu)
Kalıtsal
Brakisefali
Belirgin alın çıkıntısı
Oksiput düz
Ense kalın
Saçlar seyrek, ince ve soluk renkli
Kıvrık kulaklar
İşitme sorunları
Retinal koloboma
Hipertelorizm
Yayvan burun
Filtrum kısa
Kalın dudaklar
Yarık damak
Kesici dişlerde yarıklar
Fallot tetralojisi
Ventriküler septum defekti
Büyük damarlarda transpozisyon
Küçük meme uçları
Hidronefroz
Üreter anomalileri
Parmak anomalileri
Deride migratory ichthyosiform dermatosis
Avuçiçleri ve ayak tabanları derisi kalın
Zeka geriliği
Hipotoni
Epileptik ataklar
Serebral atrofi
Agresif davranışlar
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Zunich J, Esterly NB, Kaye CI. Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Archives of Dermatology, 124: 1188-1189, 1988
-
Shashi V, Zunich J, Kelly TE, Fryburg JS. Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. Journal of Medical Genetics, 32: 465-469, 1995
-
Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H. Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. Pediatic Dermatology, 13: 363-371, 1996
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Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics, 90: 685-688, 2012
Z
Zellweger sendromu
Zhu-Tokita-Takenouchi-Kim (ZTTK) sendromu
Zimmermann-Laband sendromu
Zinsser-Cole-Engman sendromu
Zlotogora-Ogur sendromu
Zollinger-Ellison sendromu
ZTTK sendromu Bkz Zhu-Tokita-Takenouchi-Kim sendromu
Zunich nöroektodermal sendromu
Z
Zellweger sendromu
Zhu-Tokita-Takenouchi-Kim (ZTTK) sendromu
Zimmermann-Laband sendromu
Zinsser-Cole-Engman sendromu
Zlotogora-Ogur sendromu
Zollinger-Ellison sendromu
ZTTK sendromu Bkz Zhu-Tokita-Takenouchi-Kim sendromu
Zunich nöroektodermal sendromu
Z
Zellweger sendromu
Zhu-Tokita-Takenouchi-Kim (ZTTK) sendromu
Zimmermann-Laband sendromu
Zinsser-Cole-Engman sendromu
Zlotogora-Ogur sendromu
Zollinger-Ellison sendromu
ZTTK sendromu Bkz Zhu-Tokita-Takenouchi-Kim sendromu
Zunich nöroektodermal sendromu
Nörofibromatosis sendromları
4 önemli fenotip
Nörofibromatozis tip 1 (von Recklinghausen hastalığı)
Kalıtsal - AD/Spontan (ileri yaş gebeliklerinde)
1. Nörofibroma’lar: patognomonik bulgu (%5 nörofibrosarkoma riski)
Buna ek olarak aşağıdakilerden en az biri bulunmalı
2. Lisch nodülleri (irisin benign melanositik hamartoması)
3. Cafe´-au-lait lekeleri
4. Çiller (derinin güneş görmeyen bölgelerinde- aksilla, kasık)
5. Ailede NF1 Spontan - gen mutasyonu öyküsü
6. Kemik lezyonları (sfenoid kanat displazisi, sfenoid kemik agenezi, uzun kemiklerde ince korteks, tibia displazisi, osteopenia, osteoporosis, skolyoz, sternum anomalileri, spina bifida, gelişme geriliği)
7. Optik glioma
Ek bulgular: makrosefali, sfenoid kemik displazisi, hipertelorizm, glokom, renal arter stenozu (renal hipertansiyon), hidroasefalus, tümörler (meningioma, hipotalamus tümörleri, rabdomyosarkoma, endokrin sistem tümörleri)
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D'Agostino AN, Soule EH, Miller RH. Sarcomas of the peripheral nerves and somatic soft tissue associated with multiple neurofibromatosis. Cancer, 16: 1015-1027, 1963
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Szudek J, Birch P, Friedman JM, The National Neurofibromatosis Foundation International Database Participants. Growth in North American white children with neurofibromatosis 1 (NF1). Journal of Medical Genetics, 37: 933-938, 2000
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Lakkis MM, and Tennekoon GI. Neurofibromatosis Type 1: I. General Overview.
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Journal of Neuroscience Research, 62:755–763, 2000
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Szudek, J., Evans, D. G., Friedman, J. M. Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Human Genetics, 112: 289-297, 2003
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Khosrotehrani K, Bastuji-Garin S, Riccardi VM, et al. Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients. American Journal of Medical Genetics A, 132A: 49-53, 2005
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Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited. Pediatrics, 123: 124-133, 2009
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Viskochil DH, Hock JM, Schorry EK, et al. Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options. American Journal of Medical Genetics, 149A:2327–2338, 2009
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Garcia-Romero MT, Parkin P, Lara-Corrales I. Mosaic Neurofibromatosis Type 1: A Systematic Review. Pediatric Dermatology, 33(1):9–17, 2016
Nörofibromatozis tip 2 (Santral tip nörofibromatozis)
Kalıtsal - AD/Spontan
Jüvenil katartakt
Retinal hamartoma
Lisch nodülleri yok
Deride cafe´-au-lait lekeleri (çok az)
Nörofibromalar (az ve küçük)
Deride schwanomma türü oluşumlar
Periferik nöropati
Beyin tümörleri (meningioma, glioma, schwannoma, ependimoma)
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Baser ME, Friedman JM, Evans DGR. Maternal gene effect in neurofibromatosis 2: fact or artifact? (Letter) Journal of Medical Genetics, 38: 783-784, 2001
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Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. American Journal of Human Genetics 71: 715-723, 2002
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McLaughlin ME, Pepin SM, MacCollin M, et al. Ocular pathologic findings of neurofibromatosis type 2. Archives of Ophthalmology, 125: 389-394, 2007
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Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet, 373: 1974-1986, 2009
Nörofibromatozis tip 3 ve 4
Kalıtsal - AD (öteki tiplere kıyasla ender)
Tip 3 (Riccardi tipi): Lisch nodülleri yok, bilateral akustik nöroma, arka çukur meningioması, spinal ve paraspinal nörofibromalar, palmar nörofibromlar, deride az sayıda soluk cafe´-au-lait lekeleri
Tip 4: Lisch nodülleri genellikle yok, atipik nörofibromalar
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Martuza RL, Ojemann RG. Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment. Neurosurgery, 10: 1-12, 1982
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Riccardi VM. Neurofibromatosis: clinical heterogeneity. Current Problems in Cancer, 7(2): 1-34, 1982
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Riccardi VM, Eichner JE. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Johns Hopkins University Press, Baltimore, 1986