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Restrictive dermopathy in a premature infant: A case report

Yıl 2009, Cilt 40, Sayı 3, 149 - 153, 01.04.2009

Öz

Here, we present a 33-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a typical dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. This premature infant case was presented as she had a rare disorder which can be diagnosed with typical features and few cases have been reported in the literature.

Kaynakça

  • 1.Witt DR, Hay den MR, Holbrook KA, et al. Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 1986; 24: 631-648
  • 2.Korber JS, Glasson MJ. Pyloric atresia associated with epidermolysis bullosa. J Pediatr 1977; 90: 600
  • 3.Toriello HV, Higgins JV, Waterman DF. Autosomal recessive aplasia cutis congenita: report of two affected sibs. Am J Med Genet. 1983; 15: 153-156
  • 4.Leschot NJ, Treffers PE, Becker-Bloemkolk MJ, et al. Severe congenital skin defects in a newborn. EurJObstet Gynecol Reprod Biol 1980; 10: 381-388
  • 5.Jones KL (ed). Smith's Recognizable Patterns of Human Malformation (5 ed). Philadelphia: WB Saunders, 1997:182-183
  • 6.Navarro CL, De Sandre-Giovannoli A, Bernard R, etal. LaminA andZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy. Hum Molec Genet 2004; 13: 2493-2503
  • 7.Paige DG. Restrictive Dermopathy. In: Harper J, Oranje A, Prose N (eds). Textbook ofpediatric dermatology. (5th ed). Blackwell Publishing, 2006: 134-137
  • 8.Happle R, Stekhoven JH, Hamel BC, et al. Restrictive dermopathy in two brothers. Arch Derm 1992; 128: 232-235
  • 9.Holbrook KA, Dale BA, WittDR, etal. Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). J Invest Dermatol 1987; 88: 330-340
  • 10.Paige DG, LakeBD, Bailey AJ, etal. Restrictive dermopathy: a disorder offibroblasts. Brit J Derm 1992; 127: 630-634
  • 11.Dean JCS, Gray ES, Stewart KN, et al. Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression. Clin Genet 1993; 44: 287-291
  • 12.Hamel BC, Happle R, Steylen PM, et al. False-negative prenatal diagnosis of restrictive dermopathy. Am J Med Genet 1992; 44: 824-826
  • 13.Paige DG. Restrictive Dermopathy. In: Harper J, Oranje A, Prose N (eds). Textbook ofpediatric fhdermatology (2th ed).Oxford: Blackwell Publishing, 2005:134-137
  • 14.van der Stege JG, van Straaten HL, van der Wai AC, van EyckJ. Restrictive dermopathy and associated prenatal ultrasound findings: case report. Ultrasound Obstet Gynecol 1997; 10: 140-141
  • 15.Mau U, Kendziorra H, Kaiser P, Ender s H. Restrictive dermopathy: report and review. Am J Med Genet 1997; 71:179-185
  • 16.SmittJH, van Asperen CJ, Niessen CM, et al. Dutch Task Force on Genodermatology: Restrictive dermopathy: report of 12 cases. Arch Derm 1998; 134: 577-579
  • 17.Armbrust S, Hoffmann R, Jochum F, et al. Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms. Arch Dermatol 2005; 141: 611-613
  • 18.Kim YN, JeongDH, JeongSJ, et al. Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies. Prenat Diagn 2007; 27: 352-355

Restriktif dermopatili bir prematüre vaka takdimi

Yıl 2009, Cilt 40, Sayı 3, 149 - 153, 01.04.2009

Öz

Yazıda nadir bir letal genodermatoz olan restriktif dermopatili (RD) 33 haftalık bir bebek sunulmaktadır. Bu sendrom tipik dismorfîk yüz görünümü, solunum yetmezliği, eklemlerde yaygın fleksiyon kontraktürleri ve ince, alttaki dokuya sıkıca yapışıklık gösteren, anormal büyüyen ve farklılaşan bir ciltle karakterizedir. Bu prematüre bebek, tipik bulgularıyla tanı konabilen nadir görülen bir hastalığı olduğu ve literatürde az sayıda yenidoğan vakası bildirildiği için sunulmuştur.

Kaynakça

  • 1.Witt DR, Hay den MR, Holbrook KA, et al. Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 1986; 24: 631-648
  • 2.Korber JS, Glasson MJ. Pyloric atresia associated with epidermolysis bullosa. J Pediatr 1977; 90: 600
  • 3.Toriello HV, Higgins JV, Waterman DF. Autosomal recessive aplasia cutis congenita: report of two affected sibs. Am J Med Genet. 1983; 15: 153-156
  • 4.Leschot NJ, Treffers PE, Becker-Bloemkolk MJ, et al. Severe congenital skin defects in a newborn. EurJObstet Gynecol Reprod Biol 1980; 10: 381-388
  • 5.Jones KL (ed). Smith's Recognizable Patterns of Human Malformation (5 ed). Philadelphia: WB Saunders, 1997:182-183
  • 6.Navarro CL, De Sandre-Giovannoli A, Bernard R, etal. LaminA andZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy. Hum Molec Genet 2004; 13: 2493-2503
  • 7.Paige DG. Restrictive Dermopathy. In: Harper J, Oranje A, Prose N (eds). Textbook ofpediatric dermatology. (5th ed). Blackwell Publishing, 2006: 134-137
  • 8.Happle R, Stekhoven JH, Hamel BC, et al. Restrictive dermopathy in two brothers. Arch Derm 1992; 128: 232-235
  • 9.Holbrook KA, Dale BA, WittDR, etal. Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). J Invest Dermatol 1987; 88: 330-340
  • 10.Paige DG, LakeBD, Bailey AJ, etal. Restrictive dermopathy: a disorder offibroblasts. Brit J Derm 1992; 127: 630-634
  • 11.Dean JCS, Gray ES, Stewart KN, et al. Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression. Clin Genet 1993; 44: 287-291
  • 12.Hamel BC, Happle R, Steylen PM, et al. False-negative prenatal diagnosis of restrictive dermopathy. Am J Med Genet 1992; 44: 824-826
  • 13.Paige DG. Restrictive Dermopathy. In: Harper J, Oranje A, Prose N (eds). Textbook ofpediatric fhdermatology (2th ed).Oxford: Blackwell Publishing, 2005:134-137
  • 14.van der Stege JG, van Straaten HL, van der Wai AC, van EyckJ. Restrictive dermopathy and associated prenatal ultrasound findings: case report. Ultrasound Obstet Gynecol 1997; 10: 140-141
  • 15.Mau U, Kendziorra H, Kaiser P, Ender s H. Restrictive dermopathy: report and review. Am J Med Genet 1997; 71:179-185
  • 16.SmittJH, van Asperen CJ, Niessen CM, et al. Dutch Task Force on Genodermatology: Restrictive dermopathy: report of 12 cases. Arch Derm 1998; 134: 577-579
  • 17.Armbrust S, Hoffmann R, Jochum F, et al. Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms. Arch Dermatol 2005; 141: 611-613
  • 18.Kim YN, JeongDH, JeongSJ, et al. Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies. Prenat Diagn 2007; 27: 352-355

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Aslı MEMİŞOĞLU Bu kişi benim


Mehmet Ali SÖYLEMEZ Bu kişi benim


Suna CESUR Bu kişi benim


Mehmet DEMİRDÖVEN Bu kişi benim


Hüsnü Fahri OVALI Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2009
Yayınlandığı Sayı Yıl 2009, Cilt 40, Sayı 3

Kaynak Göster

Bibtex @ { zktipb236955, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2009}, volume = {40}, number = {3}, pages = {149 - 153}, doi = {10.16948/zktb.86874}, title = {Restriktif dermopatili bir prematüre vaka takdimi}, key = {cite}, author = {Memişoğlu, Aslı and Söylemez, Mehmet Ali and Cesur, Suna and Demirdöven, Mehmet and Ovalı, Hüsnü Fahri} }
APA Memişoğlu, A. , Söylemez, M. A. , Cesur, S. , Demirdöven, M. & Ovalı, H. F. (2009). Restriktif dermopatili bir prematüre vaka takdimi . Zeynep Kamil Tıp Bülteni , 40 (3) , 149-153 . Retrieved from https://dergipark.org.tr/tr/pub/zktipb/issue/22070/236955
MLA Memişoğlu, A. , Söylemez, M. A. , Cesur, S. , Demirdöven, M. , Ovalı, H. F. "Restriktif dermopatili bir prematüre vaka takdimi" . Zeynep Kamil Tıp Bülteni 40 (2009 ): 149-153 <https://dergipark.org.tr/tr/pub/zktipb/issue/22070/236955>
Chicago Memişoğlu, A. , Söylemez, M. A. , Cesur, S. , Demirdöven, M. , Ovalı, H. F. "Restriktif dermopatili bir prematüre vaka takdimi". Zeynep Kamil Tıp Bülteni 40 (2009 ): 149-153
RIS TY - JOUR T1 - Restriktif dermopatili bir prematüre vaka takdimi AU - AslıMemişoğlu, Mehmet AliSöylemez, SunaCesur, MehmetDemirdöven, Hüsnü FahriOvalı Y1 - 2009 PY - 2009 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 149 EP - 153 VL - 40 IS - 3 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2023 ER -
EndNote %0 Zeynep Kamil Tıp Bülteni Restriktif dermopatili bir prematüre vaka takdimi %A Aslı Memişoğlu , Mehmet Ali Söylemez , Suna Cesur , Mehmet Demirdöven , Hüsnü Fahri Ovalı %T Restriktif dermopatili bir prematüre vaka takdimi %D 2009 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 40 %N 3 %R %U
ISNAD Memişoğlu, Aslı , Söylemez, Mehmet Ali , Cesur, Suna , Demirdöven, Mehmet , Ovalı, Hüsnü Fahri . "Restriktif dermopatili bir prematüre vaka takdimi". Zeynep Kamil Tıp Bülteni 40 / 3 (Nisan 2009): 149-153 .
AMA Memişoğlu A. , Söylemez M. A. , Cesur S. , Demirdöven M. , Ovalı H. F. Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni. 2009; 40(3): 149-153.
Vancouver Memişoğlu A. , Söylemez M. A. , Cesur S. , Demirdöven M. , Ovalı H. F. Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni. 2009; 40(3): 149-153.
IEEE A. Memişoğlu , M. A. Söylemez , S. Cesur , M. Demirdöven ve H. F. Ovalı , "Restriktif dermopatili bir prematüre vaka takdimi", Zeynep Kamil Tıp Bülteni, c. 40, sayı. 3, ss. 149-153, Nis. 2009, doi:10.16948/zktb.86874