Restrictive Dermopathy: Case Report, Subject Review with Kaplan-Meier Analysis, and Differential Diagnosis of the Lethal Congenital Contractural Syndromes

ABSTRACT

We report on a 34-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 dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Other lethal contractural syndromes are discussed.

KEYWORD

Restrictive dermopathy - differential diagnosis - congenital disorder

REFERENCES

• 1 McKusick V A. Online Mendelian inheritance in man (OMIM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. Available at: http//www3.ncbi. nlm.nih.gov/omim/
• 2 Gross C, Hausser I, von der Wense A. Restriktive Dermopathie.  Pathologe . 1999;  20 365-370
• 3 Graham S B, Krafchik B R. What syndrome is this?.  Pediatr Dermatol . 1999;  16 151-153
• 4 Mau U, Kendziorra H, Kaiser P, Enders H. Restrictive dermopathy: report and review.  Am J Med Genet . 1997;  71 179-185
• 5 Hess J H. Edema and scleredema in premature infants. In: Premature and Congenitally Diseased Infants Philadelphia: Lea & Febiger; 1922
• 6 Yao Y, Gong F, Xiong Y, Xiong F, Tang S. Observation on the changes of lipid peroxidation in neonates with sclerema.  Hua Hsi I Ko Ta Hsueh Hsueh Pao (in Chinese) . 1997;  28 440-441
• 7 Isaacs H. Skin diseases. In: Gilbert-Barness E, ed. Potter's Pathology of the Fetus and Infant St. Louis, MO: Mosby 1997: 1340-1377
• 8 Moessinger A C. Fetal akinesia deformation sequence: an animal model.  Pediatrics . 1983;  72 857-863
• 9 Hall J G. Analysis of Pena Shokeir phenotype.  Am J Med Genet . 1986;  25 99-117
• 10 Meira L B, Graham Jr M J, Greenberg C R. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.  Am J Hum Genet . 2000;  66 1221-1228
• 11 Silengo M C, Davi G, Bianco R. The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.  Clin Genet . 1984;  25 201-204
• 12 Curry C J. Further comments on the Neu-Laxova syndrome.  Am J Med Genet . 1982;  13 441-444
• 13 Hall J G. The lethal multiple pterygium syndromes.  Am J Med Genet . 1984;  17 803-807
• 14 Aslan Y, Erduran E, Kutlu N. Autosomal recessive multiple pterygium syndrome: a new variant?.  Am J Med Genet . 2000;  93 194-197
• 15 Toriello H V. Invited editorial comment on ``restrictive dermopathy'' and report of another case.  Birth defects . 1988;  24 103-108
• 16 Esterly N B, McKusick V A. Stiff skin syndrome.  Pediatrics . 1971;  47 360-369
• 17 Cat I, Magdalena N I, Marinoni L P. Parana hard-skin syndrome: study of seven families (Letter).  Lancet . 1974;  1 215-216
• 18 Witt D R, Hayden M R, Holbrook K A, Dale B A, Baldwin V J, Taylor G P. Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia.  Am J Med Genet . 1986;  24 631-648
• 19 Holbrook K A, Dale B A, Witt D R, Hayden M R, Toriello H V. Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).  J Invest Dermatol . 1987;  88 330-339
• 20 Dean J C, Gray E S, Stewart K N. Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.  Clin Genet . 1993;  44 287-291
• 21 Sillevis Smitt H J, van Asperen J C, Niessen C M. Restrictive dermopathy: report of 12 cases. Dutch Task Force on Genodermatology.  Arch Dermatol . 1998;  134 577-579
• 22 Hamel B C, Happle R, Steylen P M. False-negative prenatal diagnosis of restrictive dermopathy.  Am J Med Genet . 1992;  44 824-826
• 23 Schulz III T J, Tompkins R G, Burke J F. Artificial skin.  Annu Rev Med . 2000;  51 231-244
• 24 Simman R, Priebe Jr J C, Simon M. Reconstruction of aplasia cutis congenita of the trunk in a newborn infant using acellular allogenic dermal graft and cultured epithelial autografts.  Ann Plast Surg . 2000;  44 451-454
• 25 Sheridan R, Choucair R, Donelan M, Lydon M, Petras L, Tompkins R. Acellular allodermis in burns surgery: 1-year results of a pilot trial.  J Burn Care Rehabil . 1998;  19 528-530
• 26 Besecker B, Hart CG A new treatment option for acne scars: allograft dermis. Dermatol Nurs .  1999;  11 111-114
• 27 Pellegrini G, Bondanza S, Guerra L, De Luca M. Cultivation of human keratinocyte stem cells: current and future clinical applications.  Med Biol Eng Comput . 1998;  36 778-790