BibTex RIS Kaynak Göster

Restrictive dermopathy in a premature infant: A case report

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

Aslı Memişoğlu Mehmet Ali Söylemez Suna Cesur Mehmet Demirdöven Hüsnü Fahri Ovalı

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.

Anahtar Kelimeler

Infant Newborn Diseases Female Sepsis Fatal Outcome Arthrogryposis Congenital Abnormalities Infant Premature Premature Birth Skin Diseases

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

Aslı Memişoğlu Mehmet Ali Söylemez Suna Cesur Mehmet Demirdöven Hüsnü Fahri Ovalı

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.

Anahtar Kelimeler

Süt çocuğu yenidoğan hastalıklar Kadın Sepsis Ölümle sonuçlanma Artrogripoz Doğumsal anormallikler Süt çocuğu prematür Prematüre doğum Deri hastalıkları

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
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Aslı Memişoğlu Bu kişi benim

Mehmet Ali Söylemez Bu kişi benim

Suna Cesur Bu kişi benim

Mehmet Demirdöven Bu kişi benim

Hüsnü Fahri Ovalı Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2009
Yayımlandığı Sayı Yıl 2009 Cilt: 40 Sayı: 3

Kaynak Göster

APA Memişoğlu, A., Söylemez, M. A., Cesur, S., Demirdöven, M., vd. (2009). Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni, 40(3), 149-153. https://doi.org/10.16948/zktb.86874
AMA Memişoğlu A, Söylemez MA, Cesur S, Demirdöven M, Ovalı HF. Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni. Nisan 2009;40(3):149-153. doi:10.16948/zktb.86874
Chicago Memişoğlu, Aslı, Mehmet Ali Söylemez, Suna Cesur, Mehmet Demirdöven, ve Hüsnü Fahri Ovalı. “Restriktif Dermopatili Bir prematüre Vaka Takdimi”. Zeynep Kamil Tıp Bülteni 40, sy. 3 (Nisan 2009): 149-53. https://doi.org/10.16948/zktb.86874.
EndNote Memişoğlu A, Söylemez MA, Cesur S, Demirdöven M, Ovalı HF (01 Nisan 2009) Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni 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, sy. 3, ss. 149–153, 2009, doi: 10.16948/zktb.86874.
ISNAD Memişoğlu, Aslı vd. “Restriktif Dermopatili Bir prematüre Vaka Takdimi”. Zeynep Kamil Tıp Bülteni 40/3 (Nisan 2009), 149-153. https://doi.org/10.16948/zktb.86874.
JAMA Memişoğlu A, Söylemez MA, Cesur S, Demirdöven M, Ovalı HF. Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni. 2009;40:149–153.
MLA Memişoğlu, Aslı vd. “Restriktif Dermopatili Bir prematüre Vaka Takdimi”. Zeynep Kamil Tıp Bülteni, c. 40, sy. 3, 2009, ss. 149-53, doi:10.16948/zktb.86874.
Vancouver Memişoğlu A, Söylemez MA, Cesur S, Demirdöven M, Ovalı HF. Restriktif dermopatili bir prematüre vaka takdimi. Zeynep Kamil Tıp Bülteni. 2009;40(3):149-53.