
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
-
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
-
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
Papillon-Lefévre sendromu
Palma-plantar hiperkeratoz
Kalıtsal - AR
2-4 yaşlarında belirir
Avuç ve tabanlarda hiperkeratoz
Soğukta ve kuru havalarda ağrılı çatlaklar
Orbita bölgesinde skuamöz hücreli ca riski
Eklem çevrelerinde psöriasisi anımsatan krutlu lezyonlar
Deride foliküler keratoz
Kıllarda dökülmeler
Alopesi
Gingival fibromatozis
Süt dişlerinin erüpsiyonu normal
Palma-plantar hiperkeratozun başlamasıyla oral lezyonlar
Güçlü gingivitis
Stomatit (aftlı)
Agresif periodontal patolojiler (süt ve sürekli dişlerin kaybı)
Dişlerin erken yitirilmesi (kök rezorpsiyonu; periodontoklasia)
Mikrodonti
Kısa köklü dişler
Ağız kokusu
Alveol kretleri atrofisi (erken dönemde)
Bölgesel lenfadenopati
Mikroftalmi
Koroid ve tentorium cerebelli kireçlenmesi
Zeka geriliği
Fenotip: Bkz Haim-Munk sendromu
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Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, archnodactyly and peculiar deformity of the terminal phalanges. British Journal of Dermatology, 77: 42-54, 1965
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Smith P, Rosenzweig KA. Seven cases of Papillon-Lefevre syndrome. Periodontics, 5: 42-46, 1967
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Hacham-Zadeh S, Schaap T, Cohen MM. A genetic analysis of the Papillon-Lefevre syndrome in a Jewish family from Cochin. American Journal of Medical Genetics, 2: 153-157, 1978
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Puliyel JM, Sridharan Iyer KS. A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. British Journal of Dermatology, 115: 243-248, 1986
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Hart TC, Stabholz A, Meyle J, et al. Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. Journal of Periodontal Research, 32: 81-89, 1997
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Rüdiger S, Berglundh T. Root resorption and signs of repair in Papillon-Lefévre syndrome. A case study. Acta Odontologica Scandinavica, 57:221-224, 1999
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Hart TC, Hart PS, Michalec M D, et al. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. Journal of Medical Genetics, 37: 88-94, 2000
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Lefevre C, Blanchet-Bardon C, Jobard F, et al. Point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome. Journal of Investigative Dermatology, 117: 1657-1661, 2001
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Ullbro C, Crossner CG, Nederfors T, et al. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. Journal of the American Academy of Dermatology, 48:345–351, 2003
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Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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Sreeramulu B, Haragopal S, Shalini K, et al. The prosthodontic management of a young edentulous patient with the papillon lefevre syndrome-a rare case report. Journal of Clinical & Diagnostic Research, 6(10):1808–1811, 2012