Abstract
Epidermal nevi are mosaic lesions reflecting an abnormal ectodermal embryonic development of the epidermis or its appendages, with excess or deficiency or structural changes of tissue elements being either present at birth or developing in postnatal life (Boente et al. 2000, Happle and Rogers 2002, Mehregan and Pinkus 1965, Rogers 1992, Solomon and Esterly 1975). The group of epidermal nevus syndromes denotes the association of an epidermal nevus with other cutaneous or extracutaneous anomalies (Boente et al. 2000, Happle 1995) each type being associated with specific additional defects (Happle 1991).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Aizawa K, Nakamura T, Ohyama Y, Saito Y, Hoshino J, Kanda T, Sumino H, Nagai R (2000) Renal artery stenosis associated with epidermal nevus syndrome. Nephron 84: 67–70.
Aschinberg LC, Solomon LM, Zeis PM, Justice P, Rosenthal IM (1977) Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 91: 56–60.
Boente M, Asial R, Happle R (2008) Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. Pediatr Dermatol 25: 76–80.
Boente M, Pizzi de Parra N, Larralde de Luna M, Bibas-Bonet H, Sanchez-Muñoz A, Parra V, Gramajo P, Moreno S, Asial RA (2000) Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinct type of twin spotting. Eur J Dermatol 10: 190–194.
Effendy I, Happle R (1992) Linear arrangement of multiple congenital melanocytic nevi. J Am Acad Dermatol 27: 853–854.
Feuerstein RC, Mims LC (1962) Linear nevus sebaceus with convulsions and mental retardation. Am J Dis Child 104: 675–679.
Goldblum JR, Headington JT (1993) Hypophosphatemic vitamin D-resistant rickets and multiple spindle and epithelioid nevi associated with linear nevus sebaceus syndrome. J Am Acad Dermatol 29: 109–111.
Gorlin RJ, Cohen MM Jr, Hennekam RCM (2001) Syndromes of the Head and Neck. 4th ed. Oxford: Oxford University Press.
Graf U, Frei H, Kägi A, Katz AJ, Würgler FE (1989) Thirty compounds tested in the Drosophila wing spot test. Mutat Res 222: 359–373.
Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16: 899–906.
Happle R (1991) How many epidermal nevus syndromes exist? A clinicogenetic classification. J Am Acad Dermatol 25: 550–556.
Happle R (1993) Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 129: 1460–1470.
Happle R (1995) Epidermal nevus syndromes. Sem Dermatol 14: 111–121.
Happle R (1999) Loss of heterozygosity in human skin. J Am EurJ Dermatol 12: 133–135.
Happle R (2002a) Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 12: 133–135.
Happle R (2002b) Dohi memorial lecture: new aspects of cutaneous mosaicism. J Dermatol 29: 681–692.
Happle R (2004) Gustav Schimmelpenning and the syndrome bearing his name. Dermatology 209: 84–87
Happle R, Hoffmann R, Restano L, Caputo R, Tadini G (1996) Phacomatosis pigmentokeratotica: a melanocyticepidermal twin nevus syndrome. Am J Med Genet 65: 363–365.
Happle R, König A (1999) Dominant traits may give rise to paired patches of either excessive or absent involvement. Am J Med Genet 84: 176–177.
Happle R, Koopman R, Mier PD (1990) Hypothesis: vascular twin naevi and somatic recombination in man. Lancet 335: 376–378.
Happle R, Rogers M (2002) Epidermal nevi. Adv Dermatol 18: 175–201.
Happle R, Steijlen PM (1989) Phacomatosis pigmentovascularis gedeutet als ein Phänomen der Zwillingsflecken. Hautarzt 40: 721–724.
Harrison BJ, Carpenter R (1977) Somatic crossing-over in Antirrhinum majus. Heredity 38: 169–189.
Hermes B, Cremer B, Happle R, Henz BM (1997) Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. Dermatology 194: 77–79.
Koopman RJJ (1999) Concept of twin spotting. Am J Med Genet 85: 355–358.
Marden PM, Venters HD (1996) A new neurocutaneous syndrome. Am J Dis Child 112: 79–81.
Majmudar V, Loffeld A, Happle R, Salim A (2007) Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. Clin Exp Dermatol 32: 690–692.
Martínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, Febrer Bosch I, Fortea Baixauli JM (2005) Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol 22: 44–47.
Mehregan A, Pinkus H (1965) Life history of organoid nevus. JCu tanPathol 21: 76–81.
Misago N, Narisawa Y, Nishi T, Kohda H (1994) Association of nevus sebaceus with an unusual type of combined nevus. J Cutan Pathol 21: 76–81.
Okada E, Tamura A, Ishikawa O (2004) Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. Acta Derm Venereol 84: 397–398. 58.
Patterson JT (1929) The production of mutations in somatic cells of Drosophila melanogaster by means of X-rays. J Exp Zool 53: 327–372.
Ratzenhofer E, Hohlbrugger H, Gebhart W, Lubec G (1981) Linearer epidermaler Naevus mit multiplen Mißbildungen (“epidermal nevus syndrome” Solomon). Klin Pädiatr 117: 117–119.
Rogers M (1992) Epidermal nevi and epidermal nevus syndromes: a review of 233 cases. Pediatr Dermatol 9: 342–344.
Schimmelpenning GW (1957) Klinischer Beitrag zur Symptomatologie der Phakomatosen. Fortschr Röntgenstr 87: 716–720.
Solomon LM, Esterly NB (1975) Epidermal and other congenital organoid nevi. Curr Probl Pediatr 6: 1–56.
Sugarman GI, Reed WB (1969) Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neurol 21: 242–247.
Tadini G, Ermacora E, Carminati G, Gelmetti C, Cambiaghi S, Brusasco A, Caputo R, Happle R (1995) Unilateral specked lentiginous naevus, contralateral verrucous epidermal naevus, and diffuse ichthyosis-like hyperkeratosis: an unusual example of twin spotting? Eur J Dermatol 5: 659–663.
Tadini G, Restano L, Gonzales-Perez R, Gonzales-Enseñat A, Vincente-Villa MA, Cambiaghi S, Marchettini P, Mastrangelo M, Happle R (1998) Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol 134: 333–342.
Vente C, Neumann C, Bertsch H, Rupprecht R, Happle R (2004) Speckled lentiginous nevus syndrome: report of a rspe ckles. Dermatology 212: 53–58.
Vidaurri-de la Cruz H, Happle R (2006) Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. Dermatology 212: 53–58.
Vig BK, Paddock EF (1970) Studies on the expression of somatic crossing over in Glycine max L. Theoret Applied Genet 40: 316–321.
Zutt M, Strutz F, Happle R, Habenicht EM, Emmert S, Haenssle HA, Kretschmer L, Neumann C (2003) Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. Dermatology 207: 72–76.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer-Verlag/Wien
About this chapter
Cite this chapter
Boente, M.d.C., Happle, R. (2008). Phacomatosis Pigmentokeratotica. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_22
Download citation
DOI: https://doi.org/10.1007/978-3-211-69500-5_22
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-21396-4
Online ISBN: 978-3-211-69500-5
eBook Packages: MedicineMedicine (R0)