Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall

Journal of the American Academy of Dermatology

Volumn 55, Issue 2 SUPPL., 2006, Pages

  Gruson, Lisa M ^a   Orlow, Seth J ^a   Schaffer, Julie V ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMEN; ABDOMINAL CANCER; ABDOMINAL WALL; ADOLESCENT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; EYE MALFORMATION; FACE; FOOT; HEMIHYPERTROPHY; HUMAN; HUMAN TISSUE; MALE; MUSCULOSKELETAL SYSTEM MALFORMATION; NERVOUS SYSTEM MALFORMATION; NEURAL CREST CELL; NEVUS; PHACOMATOSIS PIGMENTOKERATOTICA; PHAKOMATOSIS; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SEBACEOUS NEVUS; SKIN MANIFESTATION; TRUNK; TUMOR GROWTH;

ABDOMINAL WALL; ADOLESCENT; HUMANS; HYPERTROPHY; MALE; NEUROCUTANEOUS SYNDROMES; NEVUS, PIGMENTED; RHABDOMYOSARCOMA, EMBRYONAL; SKIN; SKIN NEOPLASMS;

EID: 33745686193     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2005.08.045     Document Type: Article

References (45)

1. Happle R., Hoffman R., Restano L., Caputo R., and Tadini G. Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 65 (1996) 363-365
2. Sugarman G.I., and Reed W.B. Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neurol 21 (1969) 242-247
3. Wauschkuhn J., and Rohde B. Systemtisierte talgdrüsen-, pigment- und epitheliale naevi mit neurologischer symptomatik; Feurstein-Mimssches neuroektodermales syndrom. Hautarzt 22 (1971) 10-13
4. Stein K.M., Shumunes E., and Thew M. Neurofibromatosis presenting as the epidermal nevus syndrome. Arch Dermatol 105 (1972) 229-232
5. Dimond R.L., and Amon R.B. Epidermal nevus and rhabdomyosarcoma. Arch Dermatol 112 (1976) 1424-1426
6. Aschinberg L.C., Solomon L.M., Zeis P.M., Justice P., and Rosenthal I.M. Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 91 (1977) 56-60
7. Brufau C., Moran M., and Armijo M. Naevus sur naevus: a propos de 7 observations, trois associées a d'autres dysplasies, et une à un mélanome malin invasif. Ann Dermatol Venereol 113 (1986) 409-418
8. Goldberg L.H., Collins S.A.B., and Siegel D.M. The epidermal nevus syndrome: case report and review. Pediatr Dermatol 4 (1987) 27-33
9. Goldblum J.R., and Headington J.T. Hypophosphatemic vitamin D-resistant rickets and multiple spindle and epithelioid nevi associated with linear nevus sebaceus syndrome. J Am Acad Dermatol 29 (1993) 109-111
10. Tadini G., Ermacora E., Carminati G., Gelmetti C., Cambiaghi S., Brusasco A., et al. Unilateral speckled-lentiginous naevus, contralateral verrucous epidermal naevus, and diffuse ichthyosis-like hyperkeratosis: an unusual example of twin spotting?. Eur J Dermatol 5 (1995) 659-663
11. Hermes B., Cremer B., Happle R., and Henz B.M. Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. Dermatology 194 (1997) 77-79
12. Tadini G., Restano L., Gonzáles-Pérez R., Gonzáles-Enseñat, Vincente-Villa M.A., Cambiaghi S., et al. Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol 134 (1998) 333-337
13. Torrelo A., and Zambrano A. What syndrome is this: phacomatosis pigmentokeratotica (Happle). Pediatr Dermatol 15 (1998) 321-323
14. Boente M., Pizzi de Parra N., Larralde de Luna M., Bonet B., Santos Muñoz A., Parra V., et al. Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. Eur J Dermatol 10 (2000) 190-194
15. Wollenberg A., Butnaru C., and Oppel T. Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. Acta Derm Venereol 82 (2002) 55-57
16. Hill V.A., Felix R.H., Mortimer P.S., and Harper J.I. Phacomatosis pigmentokeratotica. J R Soc Med 96 (2003) 30-31
17. Saraswat A., Dogra S., Bbansali A., and Kumar B. Phacomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation. Br J Dermatol 148 (2003) 1074-1076
18. Okada E., Tamura A., and Ishikawa O. Phacomatosis pigmentokeratotica complicated by juvenile onset hypertension. Acta Derm Venereol 84 (2004) 397-398
19. Vidaurri-de la Cruz H., Tamayo-Sánchez L., Durán-Mckinster C., Orozco-Covarrubias M.L., and Ruiz-Maldonado R. Epidermal nevus syndromes: clinical findings in 35 patients. Pediatr Dermatol 21 (2004) 432-439
20. Martínez-Menchón T., Mahiques Santos L., Vilata Corell J.J., Febrer Bosch I., and Fortea Baixauli J.M. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol 22 (2005) 44-47
21. Kopf A.W., and Bart R.S. Tumor conference #27: combined organoid and melanocytic nevus. J Dermatol Surg Oncol 6 (1980) 28-30
22. Misago N., Narisawa Y., Nishi T., and Kohda H. Association of nevus sebaceus with an unusual type of "combined nevus". J Cutan Pathol 21 (1994) 76-81
23. Langenbach N., Hohenleutner U., and Landthaler M. Phacomatosis pigmentokeratotica: speckled lentiginous nevus in association with nevus sebaceus. Dermatology 197 (1998) 377-380
24. Kinoshita K., Shinkai H., and Utani A. Phacomatosis pigmentokeratotica without extracutaneous abnormalities. Dermatology 207 (2003) 415-416
25. Schaffer J.V., Orlow S.J., Lazova R., and Bolognia J.L. Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi. Arch Dermatol 137 (2001) 172-178
26. Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 12 (2002) 133-135
27. Holder J.E., Graham-Brown R.A.C., and Camp R.D.R. Partial unilateral lentiginosis associated with blue naevi. Br J Dermatol 130 (1994) 390-393
28. Piqué E.P., Aguilar A., Fariña M.C., Gallego M.A., Escalonilla P., and Requena L. Partial unilateral lentiginosis: report of seven cases and review of the literature. Clin Exp Dermatol 20 (1995) 319-322
29. Hofmann U.B., Ogilvie P., Müllges W., Bröcker E.-B., and Hamm H. Congenital unilateral speckled lentiginous blue nevi with asymmetric spinal muscular atrophy. J Am Acad Dermatol 39 (1998) 326-329
30. Vente C., Neumann C., Bertsch H., Rupprecht R., and Happle R. Speckled lentiginous nevus syndrome: report of a further case. Dermatology 209 (2004) 228-229
31. Selvaag E., Thune P., and Larsen T.E. Segmental neurofibromatosis presenting as a giant naevus spilus. Acta Derm Venereol (Stockh) 74 (1994) 327-334
32. Happle R. Gustav Schimmelpenning and the syndrome bearing his name. Dermatology 209 (2004) 84-87
33. Vujevich J.J., and Mancini A.J. The epidermal nevus syndromes: multisystem disorders. J Am Acad Dermatol 50 (2004) 957-961
34. Slaughter J.C., Hardman J.M., Kempe L.G., and Earle K.M. Neurocutaneous melanosis and leptomeningeal melanomatosis in children. Arch Pathol 88 (1969) 298-304
35. Hendrickson M.R., and Ross J.C. Neoplasms arising in congenital giant nevi: morphologic study of seven cases and a review of the literature. Am J Pathol 5 (1981) 109-135
36. Zúñiga S.R., Las Heras J., and Benveniste S. Rhabdomyosarcoma arising in a congenital giant nevus associated with neurocutaneous melanosis in a neonate. J Pediatr Surg 22 (1987) 1036-1038
37. Schmitt F.C., Bittencourt A., Mendonca N., and Dorea M. Rhabdomyosarcoma in a congenital pigmented nevus. Pediatr Pathol 12 (1992) 93-98
38. Hoang M.P., Sinkre P., and Albores-Saavedra J. Rhabdomyosarcoma arising in a congenital melanocytic nevus. Am J Dermatopathol 24 (2002) 26-29
39. Ilyas E.N., Goldsmith K., Lintner R., and Manders S.M. Rhabdomyosarcoma arising in a giant congenital melanocytic nevus. Cutis 73 (2004) 39-43
40. Lin J.S., Ma H.D., Chen Z.Y., and Zhang G.F. [Peripheral nerve tumor with rhabdomyosarcomatous differentiation (malignant "triton" tumor)-report of 3 cases]. Zhonghua Zhong Liu Za Zhi 10 (1988) 227-229
41. Cohen M.C., Kaschula R.O.C., Sinclair-Smith C., Emms M., and Drut R. Pluripotential melanoblastoma, a unifying concept on malignancies arising in congenital melanocytic nevi: report of two cases. Pediatr Pathol Lab Med 16 (1996) 801-812
42. Reed R.J. Neuromesenchyme: the concept of a neurocristic effector cell for dermal mesenchyme. Am J Dermatopathol 5 (1983) 385-395
43. Hoyme H.E., Seaver L.H., Jones K.L., Procopio F., Crooks W., and Feingold M. Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 79 (1998) 274-278
44. Steenman M., Westerveld A., and Mannens M. Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways. Genes Chromosomes Cancer 28 (2000) 1-13
45. Schultz U., and O'Leary C.P. Spinal AVM, epidermal nevus, and rhabdomyosarcoma: a rare neurocutaneous syndrome?. Neurology 56 (2001) 395-397