Inpatient Pediatric Dermatopathology

  • Rami N. Al-RohilEmail author
  • Maria Angelica Selim


Pediatric dermatopathology includes a range of diseases, particularly inflammatory and genodermatosis, that pathologists may not be entirely familiar with. Furthermore, children are not biopsied frequently, and this limits the understanding of the histopathologic features in pediatric skin disorders. Some diseases may only be encountered early in life, and the differential diagnosis of certain conditions in children is different from that considered in adults. This chapter covers pediatric dermatopathology in the hospital setting.


Incontinentia pigmenti Ichthyosis Subcutaneous fat necrosis of the newborn Sclerema neonatorum 


  1. 1.
    Snow IM. Purpura, urticaria and angioneurotic edema of the hands and feet in a nursing baby. JAMA. 1913;61(1):18–9.CrossRefGoogle Scholar
  2. 2.
    Poyrazoglu HM, Per H, Gunduz Z, Dusunsel R, Arslan D, NarIn N, et al. Acute hemorrhagic edema of infancy. Pediatr Int. 2003;45(6):697–700.CrossRefGoogle Scholar
  3. 3.
    Fiore E, Rizzi M, Simonetti GD, Garzoni L, Bianchetti MG, Bettinelli A. Acute hemorrhagic edema of young children: a concise narrative review. Eur J Pediatr. 2011;170(12):1507–11.CrossRefGoogle Scholar
  4. 4.
    Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. 2003;139(9):1163–70.CrossRefGoogle Scholar
  5. 5.
    Pacheco TR, Levy M, Collyer JC, de Parra NP, Parra CA, Garay M, et al. Incontinentia pigmenti in male patients. J Am Acad Dermatol. 2006;55(2):251–5.CrossRefGoogle Scholar
  6. 6.
    Waring JI. Early mention of a harlequin fetus in America. Am J Dis Child. 1932;43(2):442.Google Scholar
  7. 7.
    Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005;76(5):794–803.CrossRefGoogle Scholar
  8. 8.
    Rajpopat S, Moss C, Mellerio J, Vahlquist A, Ganemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681–6.CrossRefGoogle Scholar
  9. 9.
    Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP. Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol. 1990;94(1):6–18.CrossRefGoogle Scholar
  10. 10.
    Thyssen JP, Godoy-Gijon E, Elias PM. Ichthyosis vulgaris: the filaggrin mutation disease. Br J Dermatol. 2013;168(6):1155–66.CrossRefGoogle Scholar
  11. 11.
    Feinstein A, Ackerman A, Ziprkowski L. Histology of autosomal dominant ichthyosis vulgaris and x-linked ichthyosis. Arch Dermatol. 1970;101(5):524–7.CrossRefGoogle Scholar
  12. 12.
    Traupe H, Kolde G, Happle R. Autosomal dominant lamellar ichthyosis: a new skin disorder. Clin Genet. 1984;26(5):457–61.CrossRefGoogle Scholar
  13. 13.
    Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16(4):349–59.PubMedGoogle Scholar
  14. 14.
    Richard G. Autosomal recessive congenital ichthyosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.Google Scholar
  15. 15.
    Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, et al. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet. 2007;44(10):615–20.CrossRefGoogle Scholar
  16. 16.
    Akiyama M, Holbrook KA. Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period. J Invest Dermatol. 1994;103(5):674–7.CrossRefGoogle Scholar
  17. 17.
    Melnik B, Kuster W, Hollmann J, Plewig G, Traupe H. Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern. Clin Genet. 1989;35(2):152–6.CrossRefGoogle Scholar
  18. 18.
    Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, et al. Autosomal recessive congenital ichthyosis: genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019;40:288–98.Google Scholar
  19. 19.
    Niemi KM, Kanerva L, Kuokkanen K, Ignatius J. Clinical, light and electron microscopic features of recessive congenital ichthyosis type I. Br J Dermatol. 1994;130(5):626–33.CrossRefGoogle Scholar
  20. 20.
    Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, et al. Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenatal Diagn. 2002;22(11):1028–32.CrossRefGoogle Scholar
  21. 21.
    Yang CS, Pomerantz H, Mannava KA, Corwin J, Weinstock MA, Fleckman P, et al. Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: a report from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol. 2016;74(5):1008–10.e2.CrossRefGoogle Scholar
  22. 22.
    Avril M, Riley C. Management of epidermolytic ichthyosis in the newborn. Neonatal Network : NN. 2016;35(1):19–28.CrossRefGoogle Scholar
  23. 23.
    DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. 1994;130(8):1026–35.CrossRefGoogle Scholar
  24. 24.
    Al-Rohil RN, Leung D, Carlson JA. Congenital vulnerability of cutaneous segments arising from skin mosaicism: a genetic basis for locus minoris resistentiae. Clin Dermatol. 2014;32(5):577–91.CrossRefGoogle Scholar
  25. 25.
    Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, et al. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet. 1999;22(3):286–90.CrossRefGoogle Scholar
  26. 26.
    Canueto J, Giros M, Ciria S, Pi-Castan G, Artigas M, Garcia-Dorado J, et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 2012;166(4):830–8.CrossRefGoogle Scholar
  27. 27.
    Hamaguchi T, Bondar G, Siegfried E, Penneys NS. Cutaneous histopathology of Conradi-Hunermann syndrome. J Cutan Pathol. 1995;22(1):38–41.CrossRefGoogle Scholar
  28. 28.
    Sjogren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study. Acta Psychiatr Neurol Scand Suppl. 1957;113:1–112.PubMedGoogle Scholar
  29. 29.
    Rubin G, Spagnut G, Morandi F, Valerio E, Cutrone M. Subcutaneous fat necrosis of the newborn. Clin Case Rep. 2015;3(12):1017–20.CrossRefGoogle Scholar
  30. 30.
    Canpolat N, Ozdil M, Kurugoglu S, Caliskan S, Sever L. Nephrocalcinosis as a complication of subcutaneous fat necrosis of the newborn. Turkish J Pediatr. 2012;54(6):667–70.Google Scholar
  31. 31.
    Zeb A, Darmstadt GL. Sclerema neonatorum: a review of nomenclature, clinical presentation, histological features, differential diagnoses and management. J Perinatol. 2008;28(7):453–60.CrossRefGoogle Scholar
  32. 32.
    Requena L, Sanchez YE. Panniculitis. Part II. Mostly lobular panniculitis. J Am Acad Dermatol. 2001;45(3):325–61; quiz 62–4CrossRefGoogle Scholar

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© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Pathology and DermatologyDuke University Medical CenterDurhamUSA

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