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Congenital Diseases of the Skin

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Dermatologic Ultrasound with Clinical and Histologic Correlations

Abstract

This chapter reviews common congenital diseases that can challenge the clinical diagnoses and can be supported by ultrasound. Thus, congenital pits, fistulae, cysts, hemangiomas, vascular malformations, aplasia cutis, neurofibromatosis, and ichthyosis are among the entities that are covered in this chapter.

Common congenital conditions that may challenge the diagnoses or follow ups

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References

  1. Kugelman A, Hadad B, Ben-David J, et al. Preauricular tags and pits in newborn: the role of hearing tests. Acta Pediatr. 1997;86:170–2.

    Article  CAS  Google Scholar 

  2. Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. The preauricular sinus: a review of its clinical presentation, treatment, and associations. Pediatr Dermatol. 2004;21:191–6.

    Article  PubMed  Google Scholar 

  3. Wortsman X, Jemec GBE. Ultrasound of the ear pinna. J Ultrasound Med. 2008;27:761–70.

    PubMed  Google Scholar 

  4. Ahuja AT, Marshall JN, Roebuck DJ, King AD, Metreweli C. Sonographic appearances of preauricular sinus. Clin Radiol. 2000;55:528–32.

    Article  PubMed  CAS  Google Scholar 

  5. Maran AGD, Buchanan DR. Branchial cysts, sinuses and fistulae. Clin Otolaryngol. 1978;3:77–92.

    Article  PubMed  CAS  Google Scholar 

  6. Ahuja AT, King AD, Metreweli C. Second branchial cleft cysts: variability of sonographic appearances in adult cases. AJNR Am J Neuroradiol. 2000;21:315–9.

    PubMed  CAS  Google Scholar 

  7. Wadsworth DT, Siegel MJ. Thyroglossal duct cysts: variability of sonographic findings. AJR Am J Roentgenol. 1994;163:1475–7.

    Article  PubMed  CAS  Google Scholar 

  8. Ahuja AT, King AD, King W, Metreweli C. Thyroglossal duct cysts: sonographic appearances in adults. AJNR Am J Neuroradiol. 1999;20:579–82.

    PubMed  CAS  Google Scholar 

  9. Ahuja AT, Wong KT, King AD, et al. Imaging for thyroglossal duct cysts:the bare essentials. Clin Radiol. 2005;60:141–8.

    Article  PubMed  CAS  Google Scholar 

  10. Ozel SK, Kazez A, Koseogullari AA, Akpolat N. Scapular bronchogenic cysts in children: case report and review of the literature. Pediatr Surg Int. 2005;21:843–5.

    Article  PubMed  Google Scholar 

  11. Jona JZ. Extramediastinal bronchogenic cysts in children. Pediatr Dermatol. 1995;12:304–6.

    Article  PubMed  CAS  Google Scholar 

  12. Muramatsu T, Shirai T, Sakamoto K. Cutaneous bronchogenic cyst. Int J Dermatol. 1990;29:143–4.

    Article  PubMed  CAS  Google Scholar 

  13. Nocini P, Barbaglio A, Dolci M, et al. Dermoid cyst of the nose: a case report and review of the literature. J Oral Maxillofac Surg. 1996;54:357–62.

    Article  PubMed  CAS  Google Scholar 

  14. Tuba Sanal H. Ultrasound finding of dermoid cyst located in neck region:sack –of-marbles sign. KBB Forum 2008;7(1).www.KBB-Forum.net.

  15. Smirniotopoulos JG, Chiechi MV. Teratomas, dermoids, and ­epidermoids of the head and neck. Radiographics. 1995;15:1437–55.

    PubMed  CAS  Google Scholar 

  16. Chim H, Drolet B, Duffy K, Koshima I, Gosain AK. Vascular anomalies and lymphedema. Plast Reconstr Surg. 2010;126:55e–69e.

    Article  PubMed  Google Scholar 

  17. Fadell 2nd MF, Jones BV. Adams DM. Prenatal diagnosis and postnatal follow-up of rapidly involuting congenital hemangioma (RICH). Pediatr Radiol. 2011;41(8):1057–60.

    Article  PubMed  Google Scholar 

  18. Mulliken JB, Enjolras O. Congenital hemangiomas and infantile hemangioma: missing links. J Am Acad Dermatol. 2004;50:875–82.

    Article  PubMed  Google Scholar 

  19. North PE, Waner M, James CA, Mizeracki A, Frieden IJ, Mihm Jr MC. Congenital nonprogressive hemangioma: a distinct clinicopathologic entity unlike infantile hemangioma. Arch Dermatol. 2001;137:1607–20.

    PubMed  CAS  Google Scholar 

  20. Dubois J, Garel L, David M, Powell J. Vascular soft-tissue tumors in infancy: distinguishing features on Doppler sonography. AJR Am J Roentgenol. 2002;178:1541–5.

    Article  PubMed  Google Scholar 

  21. Gorincour G, Kokta V, Rypens F, Garel L, Powell J, Dubois J. Imaging characteristics of two subtypes of congenital hemangiomas: rapidly involuting congenital hemangiomas and non-­involuting congenital hemangiomas. Pediatr Radiol. 2005;35:1178–85.

    Article  PubMed  Google Scholar 

  22. Redondo P. Vascular malformations (I). Concept, classification, pathogenesis and clinical features. Actas Dermosifiliogr. 2007;98(3):141–58. spanish.

    Article  PubMed  CAS  Google Scholar 

  23. Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg. 1982;69:412.

    Article  PubMed  CAS  Google Scholar 

  24. Gupta A, Kozakewich H. Histopathology of vascular anomalies. Clin Plast Surg. 2011;38(1):31–44.

    Article  PubMed  Google Scholar 

  25. Jackson IT, Carreño R, Potparic Z, Hussain K. Hemangiomas, ­vascular malformations, and lymphovenous malformations: classification and methods of treatment. Plast Reconstr Surg. 1993;91:1216–30.

    Google Scholar 

  26. Burkhead A, Poindexter G, Morrell DS. A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome. J Perinatol. 2009;29(8):582–4.

    Article  PubMed  CAS  Google Scholar 

  27. Ribuffo D, Costantini M, Gullo P, Houseman ND, Taylor GI. Aplasia cutis congenita of the scalp, the skull, and the dura. Scand J Plast Reconstr Surg Hand Surg. 2003;37(3):176–80.

    Article  PubMed  CAS  Google Scholar 

  28. Bharti G, Groves L, David LR, Sanger C, Argenta LC. Aplasia cutis congenita: clinical management of a rare congenital anomaly. J Craniofac Surg. 2011;22(1):159–65.

    Article  PubMed  Google Scholar 

  29. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986;14(4):646–60.

    Article  PubMed  CAS  Google Scholar 

  30. Schena D, Germi L, Zamperetti MR, Colato C, Girolomoni G. Buschke-ollendorff syndrome. Int J Dermatol. 2008;47(11):1159–61.

    Article  PubMed  Google Scholar 

  31. Hassikou H, Tabache F, Safi S, Baai M, Hadri L. Buschke-ollendorff syndrome. Joint Bone Spine. 2008;75(2):212–4.

    Article  PubMed  Google Scholar 

  32. Vergara A, Isarría MJ, Sánchez-Caminero P, Rodríguez-Peralto JL, Guerra A. Family buschke-ollendorff síndrome. Actas Dermosifiliogr. 2005;96(1):52–3.

    Article  PubMed  Google Scholar 

  33. Yadegari M, Whyte MP, Mumm S, Phelps RG, Shanske A, Totty WG. Buschke-ollendorff syndrome: absence of LEMD3 mutation in an affected family. Arch Dermatol. 2010;146(1):63–8.

    Article  PubMed  CAS  Google Scholar 

  34. Verbov J, Graham R. Buschke-ollendorff syndrome–disseminated dermatofibrosis with osteopoikilosis. Clin Exp Dermatol. 1986;11(1):1.

    Article  Google Scholar 

  35. Roberts NM, Langtry JA, Branfoot AC, Gleeson J, Staughton RC. Case report: osteopoikilosis and the buschke-ollendorff syndrome. Br J Radiol. 1993;66(785):468–70. Review.

    Article  PubMed  CAS  Google Scholar 

  36. Horey L, Wollina DU, Ptikha T, Hafner A, Ingber A, Liu L, et al. Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol. 2009;89(5):528–9.

    Article  Google Scholar 

  37. Pérez-Finol M, González-Alcira O, Reyna-Villasmil E. Urbach-wiethe disease. Med clin (Barc). 2009;133(7):278–9.

    Article  Google Scholar 

  38. Wollina U, Konrad H, Schönlebe J. Lipoid proteinosis. Acta Dermatovenerol Alp Panonica Adriat. 2004;13(4):131–4.

    PubMed  CAS  Google Scholar 

  39. Hamada T. Lipoid proteinosis. Clin Exp Dermatol. 2002;27(8):624–9.

    Article  PubMed  CAS  Google Scholar 

  40. Uchida T, Hayashi H, Inaoki M, Miyamoto T, Fujimoto W. A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. Br J Dermatol. 2007;156(1):152–7.

    Article  PubMed  CAS  Google Scholar 

  41. Holme SA, Lenane P, Krafchik BR. What syndrome es this? Urbach-weithe syndrome (Lipoid proteinosis). Pediatr Dermatol. 2005;22(3):266–7.

    Article  PubMed  Google Scholar 

  42. Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am. 2010;57(5):1131–53.

    Article  PubMed  Google Scholar 

  43. Arnsmeier SL, Riccardi VM, Paller AS. Familial multiple café au lait spots. Arch Dermatol. 1994;130(11):1425–6.

    Article  PubMed  CAS  Google Scholar 

  44. Braffman B, Naidich TP. The phakomatoses: part I. Neurofibromatosis and tuberous sclerosis. Neuroimaging Clin N Am. 1994;4(2):299–324.

    PubMed  CAS  Google Scholar 

  45. Hassell DS, Bancroft LW, Kransdorf MJ, Peterson JJ, Berquist TH, Murphey MD, et al. Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 2008;190(3):582–8.

    Article  PubMed  Google Scholar 

  46. Chen W, Jia JW, Wang JR. Soft tissue diffuse neurofibromas: sonographic findings. Soft tissue diffuse neurofibromas: sonographic findings. J Ultrasound Med. 2007;26(4):513–8.

    PubMed  Google Scholar 

  47. Lin J, Martel W. Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 2001;176(1):75–82.

    Article  PubMed  CAS  Google Scholar 

  48. Fuchs A et al. Lipomatous tumors of soft tissues in the extremities and the waist in adults. J Radiol. 2002;83(9 Pt 1):1035–57.

    PubMed  CAS  Google Scholar 

  49. Yildirim S. Neural fibrolipoma of the ulnar nerve in the hand: a case report. Hand Surg. 2005;10(2–3):323–6.

    Article  PubMed  Google Scholar 

  50. Akisue T et al. Neural fibrolipoma of the superficial peroneal nerve in the ankle: a case report with immunohistochemical analysis. Pathol Int. 2002;52(11):730–3.

    Article  PubMed  Google Scholar 

  51. Kim YJ et al. Neural fibrolipoma. J Am Acad Dermatol. 2005;53(3):528–9.

    Article  PubMed  Google Scholar 

  52. Sobel E, Giorgini RJ, Potter GK, Schwartz RD, Chieco TM. Progressive pedal macrodactyly surgical history with 15 year ­follow-up. Foot Ankle Int. 2000;21:45–50.

    PubMed  CAS  Google Scholar 

  53. Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol. 2009;10:351–64. doi:10.2165/11311070-000000000-00000.

    Article  PubMed  Google Scholar 

  54. Lefévre C, Audebert S, Jobard F, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Molec Genet. 2003;12:2369.

    Article  PubMed  Google Scholar 

  55. Berg C, Geipel A, Kohl M, Krokowski M, Baschat AA, Germer U, et al. Prenatal sonographic features of harlequin ichthyosis. Arch Gynecol Obstet. 2003;268:48–51.

    PubMed  CAS  Google Scholar 

  56. Watson WJ, Mabee Jr LM. Prenatal diagnosis of severe congenital ichthyosis (harlequin fetus) by ultrasonography. J Ultrasound Med. 1995;14:241–3.

    PubMed  CAS  Google Scholar 

  57. Meizner I. Prenatal ultrasonic features in a rare case of congenital ichthyosis (harlequin fetus). J Clin Ultrasound. 1992;20:132–4.

    Article  PubMed  CAS  Google Scholar 

  58. Mihalko M, Lindfors KK, Grix AW, Brant WE, McGahan JP. Prenatal sonographic diagnosis of harlequin ichthyosis. AJR Am J Roentgenol. 1989;153:827–8.

    Article  PubMed  CAS  Google Scholar 

  59. Kudla MJ, Timmerman D. Prenatal diagnosis of harlequin ichthyosis using 3- and 4-dimensional sonography. J Ultrasound Med. 2010;29:317–9.

    PubMed  Google Scholar 

  60. Vohra N, Rochelson B, Smith-Levitin M. Three-dimensional sonographic findings in congenital (harlequin) ichthyosis. J Ultrasound Med. 2003;22:737–9.

    PubMed  Google Scholar 

  61. Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol. 2002;20:82–5.

    Article  PubMed  CAS  Google Scholar 

  62. Wortsman X, Aranibar L, Morales C. Post-natal 2 D and 3D sonography of the skin and nail in congenital autosomal recessive Icthyosis correlated with cutaneous histology. J Ultrasound Med 2011;30:1437–9.

    Google Scholar 

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Authors and Affiliations

  1. Department of Radiology and Dermatology, Institute for Diagnostic Imaging and Research of the Skin and Soft Tissues, Clinica Servet, University of Chile, Faculty of Medicine, Almirante Pastene 150, Providencia, Santiago, Chile

    Ximena Wortsman MD

  2. Department of Medicine, Southern Illinois University School of Medicine, 3128 Temple Drive, Springfield, IL, 62704, USA

    Jacobo Wortsman MD

  3. Department of Dermatology, Hospital Clínico Universidad de Chile, Faculty of Medicine, University of Chile, Santos Dumont 999, Santiago, 8380456, Chile

    Ligia Aranibar MD

Authors
  1. Ximena Wortsman MD
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  2. Jacobo Wortsman MD
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  3. Ligia Aranibar MD
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Corresponding author

Correspondence to Ximena Wortsman MD .

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Editors and Affiliations

  1. Clinica Servet, Faculty of Medicine, University of Chile, Almirante Pastene 150, Santiago, 7500551, Chile

    Ximena Wortsman

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Wortsman, X., Wortsman, J., Aranibar, L. (2013). Congenital Diseases of the Skin. In: Wortsman, X. (eds) Dermatologic Ultrasound with Clinical and Histologic Correlations. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7184-4_3

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  • DOI: https://doi.org/10.1007/978-1-4614-7184-4_3

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