Congenital naevi

    Congenital epidermal naevi

    • 1  Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365(7):611–19. Cross Ref link Pubmed link
    • 2  Hafner C, van Oers JM, Vogt T, et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006;116(8):2201–7. Cross Ref link Pubmed link
    • 3  Garcia‐Vargas A, Hafner C, Perez‐Rodriguez AG, et al. An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. Am J Med Genet A 2008;146A(17):2275–9. Cross Ref link Pubmed link
    • 4  Hafner C, Lopez‐Knowles E, Luis NM, et al. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci USA 2007;104(33):13450–4. Cross Ref link Pubmed link
    • 5  Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012;90(6):1108–15. Cross Ref link Pubmed link
    • 6  Hafner C, Toll A, Gantner S, et al. Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet 2012;49(4):249–53. Cross Ref link Pubmed link
    • 7  Hafner C, Toll A, Real FX. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N Engl J Med 2011;365(20):1940–2. Cross Ref link Pubmed link
    • 8  Bourdeaut F, Herault A, Gentien D, et al. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J Med Genet 2010;47(12):859–62. Cross Ref link Pubmed link
    • 9  Nomura K, Umeki K, Hatayama I, Kuronuma T. Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. Arch Dermatol 2001;137(9):1192–5. Cross Ref link Pubmed link
    • 10  Moss C, Jones DO, Blight A, Bowden PE. Birthmark due to cutaneous mosaicism for keratin 10 mutation. Lancet 1995;345(8949):596. Cross Ref link Pubmed link
    • 11  Happle R. [Acanthokeratolytic epidermal nevus: acanthokeratolysis is hereditary, not the nevus.] Hautarzt 1990;41(3):117–18. Pubmed link
    • 12  Groesser L, Herschberger E, Ruetten A, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 2012;44:783–7. Cross Ref link Pubmed link
    • 13  Munro CS, Wilkie AO. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998;352(9129):704–5. Cross Ref link Pubmed link
    • 14  Easton JA, Donnelly S, Kamps MA, et al. Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol 2012;132(9):2184–91. Cross Ref link Pubmed link
    • 15  Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16(4):899–906. Cross Ref link Pubmed link
    • 16  Loffeld A, McLellan NJ, Cole T, Payne SJ, Fricker D, Moss C. Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. Br J Dermatol 2006;154(6):1194–8. Cross Ref link Pubmed link
    • 17  De Jong E, Rulo HF, van de Kerkhof PC. Inflammatory linear verrucous epidermal naevus (ILVEN) versus linear psoriasis. A clinical, histological and immunohistochemical study. Acta Derm Venereol 1991;71(4):343–6. Pubmed link
    • 18  Hofer T. Does inflammatory linear verrucous epidermal nevus represent a segmental type 1/type 2 mosaic of psoriasis? Dermatology 2006;212(2):103–7. Cross Ref link Pubmed link
    • 19  Schimmelpenning GW. [Clinical contribution to symptomatology of phacomatosis.] Fortschr Geb Rontgenstr Nuklearmed 1957;87(6):716–20. Cross Ref link Pubmed link
    • 20  Feuerstein RC, Mims LC. Linear nevus sebaceus with convulsions and mental retardation. Am J Dis Child 1962;104:675–9. Pubmed link
    • 21  Hermes B, Cremer B, Happle R, Henz BM. Phacomatosis pigmentokeratotica: a patient with the rare melanocytic‐epidermal twin nevus syndrome. Dermatology 1997;194(1):77–9. Cross Ref link Pubmed link
    • 22  Groesser L, Herschberger E, Sagrera A, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 2013;133(8):1998–2003. Cross Ref link Pubmed link
    • 23  Levinsohn JL, Teng J, Craiglow BG, et al. Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. J Invest Dermatol 2014;134:1149–52. Cross Ref link Pubmed link
    • 24  Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84(5):389–95. Cross Ref link Pubmed link
    • 25  Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN. Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol 2004;140(8):947–53. Pubmed link
    • 26  Twede JV, Turner JT, Biesecker LG, Darling TN. Evolution of skin lesions in Proteus syndrome. J Am Acad Dermatol 2005;52(5):834–8. Cross Ref link Pubmed link
    • 27  Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A 2007;143A(24):2944–58. Cross Ref link Pubmed link
    • 28  Gucev ZS, Tasic V, Jancevska A, et al. Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A 2008;146A(20):2688–90. Cross Ref link Pubmed link
    • 29  Ousager LB, Bygum A, Hafner C. Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome. Br J Dermatol 2012;167(1):202–4. Cross Ref link Pubmed link
    • 30  Bygum A, Fagerberg CR, Clemmensen OJ, Fiebig B, Hafner C. Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. BMC Med Genet 2011;12:79. Cross Ref link Pubmed link
    • 31  Tadini G, Restano L, Happle R, Itin P. PENS syndrome: a new neurocutaneous phenotype. Dermatology 2012;224(1):24–30. Cross Ref link Pubmed link
    • 32  Torrelo A, Colmenero I, Kristal L, et al. Papular epidermal nevus with “skyline” basal cell layer (PENS). J Am Acad Dermatol 2011;64(5):888–92. Cross Ref link Pubmed link
    • 33  Happle R, Koch H, Lenz W. The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980;134(1):27–33. Cross Ref link Pubmed link
    • 34  Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3beta‐hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000;90(4):339–46. Cross Ref link Pubmed link
    • 35  Konig A, Happle R, Fink‐Puches R, et al. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol 2002;46(4):594–6. Cross Ref link Pubmed link
    • 36  Estape A, Josifova D, Rampling D, Glover M, Kinsler VA. CHILD syndrome without hemidysplasia. Br J Dermatol 2014, epub 2014/12/24.
    • 37  Happle R, Tinschert S. Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. Acta Derm Venereol 2008;88(4):382–7. Pubmed link
    • 38  Itin PH. Happle‐Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo‐ and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies. Dermatology 2009;218(3):221–5. Cross Ref link Pubmed link
    • 39  Ito T, Mitamura Y, Tsuji Y, Harada K, Urabe K. Bilateral nevus comedonicus syndrome. Yonago Acta Med 2013;56(2):59–61. Pubmed link
    • 40  Patrizi A, Neri I, Fiorentini C, Marzaduri S. Nevus comedonicus syndrome: a new pediatric case. Pediatr Dermatol 1998;15(4):304–6. Cross Ref link Pubmed link
    • 41  Popov L, Boianov L. [Undescribed congenital cutaneoocular syndrome (congenital cataract‐comedo syndrome)]. Suvremenna Meditsina 1962;13(5):49–50. Pubmed link
    • 42  Rosen H, Schmidt B, Lam HP, Meara JG, Labow BI. Management of nevus sebaceous and the risk of basal cell carcinoma: an 18‐year review. Pediatr Dermatol 2009;26(6):676–81. Cross Ref link Pubmed link
    • 43  Namkoong S, Kim JY, Gye J, et al. Pigmented epithelioid melanocytoma developed in a patient with Becker nevus syndrome. J Dermatol 2012;39(9):811–12. Cross Ref link Pubmed link
    • 44  Ruto F, Joly P, Fusade T, Lauret P. Becker naevus and malignant melanoma. Dermatology 1992;184(1):83. Cross Ref link Pubmed link
    • 45  Lim YH, Ovejero D, Sugarman JS, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23, and hypophosphatemia. Hum Mol Genet 2014;23(2):397–407. Cross Ref link Pubmed link
    • 46  Aschinberg LC, Solomon LM, Zeis PM, Justice P, Rosenthal IM. Vitamin D‐resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 1977;91(1):56–60. Cross Ref link Pubmed link
    • 47  Sugarman JL. Epidermal nevus syndromes. Semin Cutan Med Surg 2007;26(4):221–30. Cross Ref link Pubmed link
    • 48  Happle R. The group of epidermal nevus syndromes Part II. Less well defined phenotypes. J Am Acad Dermatol 2010;63(1):25–30; quiz 1–2. Cross Ref link Pubmed link
    • 49  Happle R. The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 2010;63(1):1–22; quiz 3–4. Cross Ref link Pubmed link
    • 50  Baker RS, Ross PA, Baumann RJ. Neurologic complications of the epidermal nevus syndrome. Arch Neurol 1987;44(2):227–32. Cross Ref link Pubmed link
    • 51  Lapidoth M, Israeli H, Ben Amitai D, Halachmi S. Treatment of verrucous epidermal nevus: experience with 71 cases. Dermatology 2013;226(4):342–6. Cross Ref link Pubmed link
    • 52  Alonso‐Castro L, Boixeda P, Reig I, de Daniel‐Rodriguez C, Fleta‐Asin B, Jaen‐Olasolo P. Carbon dioxide laser treatment of epidermal nevi: response and long‐term follow‐up. Actas Dermosifiliogr 2012;103(10):910–18. Cross Ref link
    • 53  Paller AS, van Steensel MA, Rodriguez‐Martin M, et al. Pathogenesis‐based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol 2011;131(11):2242–8. Cross Ref link Pubmed link
    • 54  Bygum A, Virtanen M, Brandrup F, et al. Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings. Acta Derm Venereol 2013;93(3):309–13. Cross Ref link Pubmed link
    • 55  Koh MJ, Lee JS, Chong WS. Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. Pediatr Dermatol 2013;30(3):370–3. Cross Ref link Pubmed link

    Congenital pigment cell naevi

      Congenital melanocytic naevi

      • 56  Alper JC, Holmes LB. The incidence and significance of birthmarks in a cohort of 4,641 newborns. Pediatr Dermatol 1983;1(1):58–68. Cross Ref link Pubmed link
      • 57  Chaithirayanon S, Chunharas A. A survey of birthmarks and cutaneous skin lesions in newborns. J Med Assoc Thailand 2013;96(Suppl. 1):S49–53.
      • 58  Jacobs AH, Walton RG. The incidence of birthmarks in the neonate. Pediatrics 1976;58(2):218–22. Pubmed link
      • 59  Castilla EE, da Graca DM, Orioli‐Parreiras IM. Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies. Br J Dermatol 1981;104(3):307–15. Cross Ref link Pubmed link
      • 60  Ruiz‐Maldonado R, Tamayo L, Laterza AM, Duran C. Giant pigmented nevi: clinical, histopathologic, and therapeutic considerations. J Pediatr 1992;120(6):906–11. Cross Ref link Pubmed link
      • 61  Kinsler VA, Birley J, Atherton DJ. Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988–2007. Part 1 – epidemiology, phenotype and outcomes. Br J Dermatol 2009;160(1):143–50. Cross Ref link Pubmed link
      • 62  Bittencourt FV, Marghoob AA, Kopf AW, Koenig KL, Bart RS. Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis. Pediatrics 2000;106(4):736–41. Cross Ref link Pubmed link
      • 63  Barnhill RL, Piepkorn MW, Busam KJ, eds. Pathology of Melanocytic Nevi and Malignant Melanoma.New York: Springer, 2004. Cross Ref link
      • 64  Kinsler VA, Abu‐Amero S, Budd P, et al. Germline melanocortin‐1‐receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol 2012;132(8):2026–32. Cross Ref link Pubmed link
      • 65  Cramer SF. The histogenesis of acquired melanocytic nevi. Based on a new concept of melanocytic differentiation. Am J Dermatopathol 1984;6(Suppl. 2):89–98. Cross Ref link
      • 66  Cramer SF. The melanocytic differentiation pathway in congenital melanocytic nevi: theoretical considerations. Pediatr Pathol 1988;8(3):253–65. Cross Ref link Pubmed link
      • 67  Adameyko I, Lallemend F, Aquino JB, et al. Schwann cell precursors from nerve innervation are a cellular origin of melanocytes in skin. Cell 2009;139(2):366–79. Cross Ref link Pubmed link
      • 68  Kinsler VA, Anderson G, Latimer B, et al. Immunohistochemical and ultrastructural features of congenital melanocytic naevus cells support a stem‐cell phenotype. Br J Dermatol 2013;169(2):374–83. Cross Ref link Pubmed link
      • 69  Barnhill RL, Chastain MA, Jerdan MS, Lebbe C, Janin A, Lugassy C. Angiotropic neonatal congenital melanocytic nevus: how extravascular migration of melanocytes may explain the development of congenital nevi. Am J Dermatopathol 2010;32:495–9. Cross Ref link Pubmed link
      • 70  Dupin E, Calloni G, Real C, Goncalves‐Trentin A, Le Douarin NM. Neural crest progenitors and stem cells. C R Biol 2007;330(6–7):521–9. Cross Ref link Pubmed link
      • 71  Kinsler VA, Anderson G, Latimer B, et al. Immunohistochemical and ultrastructural features of congenital melanocytic naevus cells support a stem‐cell phenotype. Br J Dermatol 2013;169:374–83. Cross Ref link Pubmed link
      • 72  Charbel C, Fontaine RH, Malouf GG, et al. NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi. J Invest Dermatol 2014;134(4):1067–74. Cross Ref link Pubmed link
      • 73  Bauer J, Curtin JA, Pinkel D, Bastian BC. Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. J Invest Dermatol 2007;127(1):179–82. Cross Ref link Pubmed link
      • 74  Kinsler VA, Krengel S, Riviere JB, et al. Next generation sequencing of nevus spilus‐type congenital melanocytic nevus: exquisite genotype‐phenotype correlation in mosaic rasopathies. J Invest Dermatol 2014;134:2658–60. Cross Ref link Pubmed link
      • 75  Strauss RM, Newton Bishop JA. Spontaneous involution of congenital melanocytic nevi of the scalp. J Am Acad Dermatol 2008;58(3):508–11. Cross Ref link Pubmed link
      • 76  Kinsler V, Bulstrode N. The role of surgery in the management of congenital melanocytic naevi in children: a perspective from Great Ormond Street Hospital. J Plast Reconstr Aesth Surg 2009;62(5):595–601. Cross Ref link
      • 77  Kinsler V. Satellite lesions in congenital melanocytic nevi – time for a change of name. Pediatr Dermatol 2011;28(2):212–13. Cross Ref link Pubmed link
      • 78  Herron MD, Vanderhooft SL, Smock K, Zhou H, Leachman SA, Coffin C. Proliferative nodules in congenital melanocytic nevi: a clinicopathologic and immunohistochemical analysis. Am J Surg Pathol 2004;28(8):1017–25. Cross Ref link Pubmed link
      • 79  Phadke PA, Rakheja D, Le LP, et al. Proliferative nodules arising within congenital melanocytic nevi: a histologic, immunohistochemical, and molecular analyses of 43 cases. Am J Surg Pathol 2011;35(5):656–69. Cross Ref link Pubmed link
      • 80  Schaffer JV, Orlow SJ, Lazova R, Bolognia JL. Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi. Arch Dermatol 2001;137(2):172–8. Cross Ref link Pubmed link
      • 81  Schaffer JV, Orlow SJ, Lazova R, Bolognia JL. Speckled lentiginous nevus – classic congenital melanocytic nevus hybrid not the result of “collision”. Arch Dermatol 2001;137(12):1655. Cross Ref link Pubmed link
      • 82  Kinsler VA, Chong WK, Aylett SE, Atherton DJ. Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. Br J Dermatol 2008;159(4):907–14. Cross Ref link Pubmed link
      • 83  Krengel S, Scope A, Dusza SW, Vonthein R, Marghoob AA. New recommendations for the categorization of cutaneous features of congenital melanocytic nevi. J Am Acad Dermatol 2013;68(3):441–51. Cross Ref link Pubmed link
      • 84  Barkovich AJ, Frieden IJ, Williams ML. MR of neurocutaneous melanosis. Am J Neuroradiol 1994;15(5):859–67. Pubmed link
      • 85  Kadonaga JN, Frieden IJ. Neurocutaneous melanosis: definition and review of the literature. J Am Acad Dermatol 1991;24(5 Pt 1):747–55. Cross Ref link Pubmed link
      • 86  Rokitansky J. Ein ausgezeichneter Fall von Pigment‐mal mit ausgebreiteter Pigmentierung der inneren Hirn‐ und Ruchenmarkshaute. Allg Wien Med Z 1861:113–16.
      • 87  Ramaswamy V, Delaney H, Haque S, Marghoob A, Khakoo Y. Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol 2012;54(6):563–8. Cross Ref link Pubmed link
      • 88  Arai M, Nosaka K, Kashihara K, Kaizaki Y. Neurocutaneous melanosis associated with Dandy‐Walker malformation and a meningohydroencephalocele. Case report. J Neurosurg 2004;100(5 Suppl. Pediatrics):501–5. Pubmed link
      • 89  Kadonaga JN, Barkovich AJ, Edwards MS, Frieden IJ. Neurocutaneous melanosis in association with the Dandy‐Walker complex. Pediatr Dermatol 1992;9(1):37–43. Cross Ref link Pubmed link
      • 90  Kinsler V, Shaw AC, J.H.M, Hennekam RC. The face in congenital melanocytic naevus syndrome. Am J Med Genet A 2012;158A(5):1014–19. Cross Ref link Pubmed link
      • 91  Foster RD, Williams ML, Barkovich AJ, Hoffman WY, Mathes SJ, Frieden IJ. Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children. Plast Reconstr Surg 2001;107(4):933–41. Cross Ref link Pubmed link
      • 92  Frieden IJ, Williams ML, Barkovich AJ. Giant congenital melanocytic nevi: brain magnetic resonance findings in neurologically asymptomatic children. J Am Acad Dermatol 1994;31(3 Pt 1):423–9. Cross Ref link Pubmed link
      • 93  Byrd SE, Darling CF, Tomita T, Chou P, de Leon GA, Radkowski MA. MR imaging of symptomatic neurocutaneous melanosis in children. Pediatr Radiol 1997;27(1):39–44. Cross Ref link Pubmed link
      • 94  Waelchli R et al. xxxxxxxxxx. Br J Dermatol 2015, in press.
      • 95  Kinsler VA, Paine SM, Anderson GW, et al. Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. Acta Neuropathol (Berl) 2012;2:453–6. Cross Ref link
      • 96  Fu YJ, Morota N, Nakagawa A, Takahashi H, Kakita A. Neurocutaneous melanosis: surgical pathological features of an apparently hamartomatous lesion in the amygdala. J Neurosurg Pediatr 2010;6(1):82–6. Cross Ref link Pubmed link
      • 97  Andermann F. Neurocutaneous melanosis and epilepsy surgery. Epileptic Disord 2005;7(1):57. Pubmed link
      • 98  Ruiz‐Maldonado R, del Rosario Barona‐Mazuera M, Hidalgo‐Galvan LR, et al. Giant congenital melanocytic nevi, neurocutaneous melanosis and neurological alterations. Dermatology 1997;195(2):125–8. Cross Ref link Pubmed link
      • 99  Shpall S, Frieden I, Chesney M, Newman T. Risk of malignant transformation of congenital melanocytic nevi in blacks. Pediatr Dermatol 1994;11(3):204–8. Cross Ref link Pubmed link
      • 100  Krengel S, Hauschild A, Schafer T. Melanoma risk in congenital melanocytic naevi: a systematic review. Br J Dermatol 2006;155(1):1–8. Cross Ref link Pubmed link
      • 101  Bett BJ. Large or multiple congenital melanocytic nevi: occurrence of cutaneous melanoma in 1008 persons. J Am Acad Dermatol 2005;52(5):793–7. Cross Ref link Pubmed link
      • 102  Hale EK, Stein J, Ben‐Porat L, et al. Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi – results from the NYU‐LCMN registry. Br J Dermatol 2005;152(3):512–17. Cross Ref link Pubmed link
      • 103  Zaal LH, Mooi WJ, Klip H, van der Horst CM. Risk of malignant transformation of congenital melanocytic nevi: a retrospective nationwide study from the Netherlands. Plast Reconstr Surg 2005;116(7):1902–9. Cross Ref link Pubmed link
      • 104  Cohen MC, Kaschula RO, Sinclair‐Smith C, Emms M, Drut R. Pluripotential melanoblastoma, a unifying concept on malignancies arising in congenital melanocytic nevi: report of two cases. Pediatr Pathol Lab Med 1996;16(5):801–12. Cross Ref link Pubmed link
      • 105  Hendrickson MR, Ross JC. Neoplasms arising in congenital giant nevi: morphologic study of seven cases and a review of the literature. Am J Surg Pathol 1981;5(2):109–35. Cross Ref link Pubmed link
      • 106  Hoang MP, Sinkre P, Bores‐Saavedra J. Rhabdomyosarcoma arising in a congenital melanocytic nevus. Am J Dermatopathol 2002;24(1):26–9. Cross Ref link Pubmed link
      • 107  Ilyas EN, Goldsmith K, Lintner R, Manders SM. Rhabdomyosarcoma arising in a giant congenital melanocytic nevus. Cutis 2004;73(1):39–43. Pubmed link
      • 108  Runtuwene V, van Eekelen M, Overvoorde J, et al. Noonan syndrome gain‐of‐function mutations in NRAS cause zebrafish gastrulation defects. Dis Model Mech 2011;4(3):393–9. Cross Ref link Pubmed link
      • 109  Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2010;42(1):27–9. Cross Ref link Pubmed link
      • 110  Hunter AG, Clifford B, Cox DM. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndrome. Clin Genet 1985;28(1):47–53. Cross Ref link Pubmed link
      • 111  Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 2013;50(5):339–44. Cross Ref link Pubmed link
      • 112  Bastian BC, Xiong J, Frieden IJ, et al. Genetic changes in neoplasms arising in congenital melanocytic nevi: differences between nodular proliferations and melanomas. Am J Pathol 2002;161(4):1163–9. Cross Ref link Pubmed link

      Congenital Spitz naevus, congenital blue naevus and congenital naevus spilus

      • 113  Zaenglein AL, Heintz P, Kamino H, Zisblatt M, Orlow SJ. Congenital Spitz nevus clinically mimicking melanoma. J Am Acad Dermatol 2002;47(3):441–4. Cross Ref link Pubmed link
      • 114  Harris MN, Hurwitz RM, Buckel LJ, Gray HR. Congenital spitz nevus. Dermatol Surg 2000;26(10):931–5. Cross Ref link Pubmed link
      • 115  Feito‐Rodriguez M, de Lucas‐Laguna R, Bastian BC, et al. Nodular lesions arising in a large congenital melanocytic nevus in a newborn with eruptive disseminated Spitz nevi. Br J Dermatol 2011;165(5):1138–42. Cross Ref link Pubmed link
      • 116  Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457(7229):599–602. Cross Ref link Pubmed link
      • 117  Marano SR, Brooks RA, Spetzler RF, Rekate HL. Giant congenital cellular blue nevus of the scalp of a newborn with an underlying skull defect and invasion of the dura mater. Neurosurgery 1986;18(1):85–9. Cross Ref link Pubmed link
      • 118  Micali G, Innocenzi D, Nasca MR. Cellular blue nevus of the scalp infiltrating the underlying bone: case report and review. Pediatr Dermatol 1997;14(3):199–203. Cross Ref link Pubmed link
      • 119  Nakamura Y, Shibata‐Ito M, Nakamura Y, et al. Malignant blue nevus arising in a giant congenital cellular blue nevus in an infant. Pediatr Dermatol 2012;29(5):651–5. Cross Ref link Pubmed link
      • 120  Serarslan G, Yaldiz M, Verdi M. Giant congenital cellular blue naevus of the scalp with disseminated common blue naevi of the body. J Eur Acad Dermatol Venereol 2009;23(2):190–1. Cross Ref link Pubmed link
      • 121  Shi G, Zhou Y, Li SJ, Fan YM. Clinicopathologic features of an infant with generalized congenital epithelioid blue nevi. Pediatr Dev Pathol 2013;16(6):442–6. Cross Ref link Pubmed link
      • 122  Hawkes JE, Campbell J, Garvin D, Cannon‐Albright L, Cassidy P, Leachman SA. Lack of GNAQ and GNA11 germ‐line mutations in familial melanoma pedigrees with uveal melanoma or blue nevi. Front Oncol 2013;3:160. Cross Ref link Pubmed link
      • 123  Happle R. Speckled lentiginous naevus: which of the two disorders do you mean? Clin Exp Dermatol 2009;34(2):133–5. Cross Ref link Pubmed link
      • 124  Stewart DM, Altman J, Mehregan AH. Speckled lentiginous nevus. Arch Dermatol 1978;114(6):895–6. Cross Ref link Pubmed link
      • 125  Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 2002;12(2):133–5. Pubmed link
      • 126  Torchia D, Schachner LA. Speckled lentiginous nevus syndrome: central nervous system abnormalities as a critical diagnostic feature. Pediatr Dermatol 2011;28(6):749. Cross Ref link Pubmed link
      • 127  Groesser L, Herschberger E, Sagrera A, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 2013;133(8):1998–2003. Cross Ref link Pubmed link
      • 128  Sarin KY, McNiff JM, Kwok S, Kim J, Khavari PA. Activating HRAS mutation in nevus spilus. J Invest Dermatol 2014;134(6):1766–8. Cross Ref link Pubmed link
      • 129  Betti R, Inselvini E, Palvarini M, Crosti C. Agminated intradermal Spitz nevi arising on an unusual speckled lentiginous nevus with localized lentiginosis: a continuum? Am J Dermatopathol 1997;19(5):524–7. Cross Ref link Pubmed link
      • 130  Aloi F, Tomasini C, Pippione M. Agminated Spitz nevi occurring within a congenital speckled lentiginous nevus. Am J Dermatopathol 1995;17(6):594–8. Cross Ref link Pubmed link
      • 131  Bastian BC, LeBoit PE, Pinkel D. Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am J Pathol 2000;157(3):967–72. Cross Ref link Pubmed link

      Congenital connective tissue naevi and fat naevi

      • 132  Saussine A, Marrou K, Delanoe P, et al. Connective tissue nevi: an entity revisited. J Am Acad Dermatol 2012;67(2):233–9. Cross Ref link Pubmed link
      • 133  Beachkofsky TM, Sapp JC, Biesecker LG, Darling TN. Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol 2010;63(5):799–804. Cross Ref link Pubmed link
      • 134  Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in pik3ca cause cloves syndrome. Am J Hum Genet 2012;90(6):1108–15. Cross Ref link Pubmed link
      • 135  Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A 2007;143A(24):2944–58. Cross Ref link Pubmed link
      • 136  Bordas X, Ferrandiz C, Ribera M, Galofre E. Papular elastorrhexis: a variety of nevus anelasticus? Arch Dermatol 1987;123(4):433–4. Cross Ref link Pubmed link
      • 137  Buechner SA, Itin P. Papular elastorrhexis. report of five cases. Dermatology 2002;205(2):198–200. Cross Ref link Pubmed link
      • 138  Wang AR, Kent K, Jagdeo J, Robinson‐Bostom L, Bercovitch L. Nevus anelasticus: how should such lesions be classified? J Cutan Pathol 2014;41(6):519–23. Cross Ref link Pubmed link
      • 139  Glover MT, Malone M, Atherton DJ. Michelin‐tire baby syndrome resulting from diffuse smooth muscle hamartoma. Pediatr Dermatol 1989;6(4):329–31. Cross Ref link Pubmed link
      • 140  Ross CM. Generalized folded skin with underlying lipomatous nevus: the michelin tyre baby. Arch Dermatol 1972;106(5):766. Cross Ref link Pubmed link
      • 141  Happle R, Kuster W. Nevus psiloliparus: a distinct fatty tissue nevus. Dermatology 1998;197(1):6–10. Cross Ref link Pubmed link
      • 142  Happle R, Horster S. Nevus psiloliparus: report of two nonsyndromic cases. Eur J Dermatol 2004;14(5):314–16. Pubmed link
      • 143  Hershkovitz D, Amitai B, Sprecher E. Familial cutaneous collagenomas resulting from a novel mutation in LEMD3. Br J Dermatol 2007;156(2):375–7. Cross Ref link Pubmed link
      • 144  Hellemans J, Preobrazhenska O, Willaert A, et al. Loss‐of‐function mutations in LEMD3 result in osteopoikilosis, Buschke‐Ollendorff syndrome and melorheostosis. Nat Genet 2004;36(11):1213–18. Cross Ref link Pubmed link
      • 145  Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365(7):611–19. Cross Ref link Pubmed link
      • 146  Mirzaa G, Conway R, Graham JM, Dobyns WB. PIK3CA‐related segmental overgrowth. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Stephens K, eds. GeneReviews. Seattle, WA: University of Washington, 2013. http://www.ncbi.nlm.nih.gov/books/NBK1116/ (last accessed January 2015).
      • 147  Harris HW, Miller OF. Midline cutaneous and spinal defects. Midline cutaneous abnormalities associated with occult spinal disorders. Arch Dermatol 1976;112(12):1724–8. Cross Ref link Pubmed link

      ‘Naevoid’ entities and currently unclassifiable naevi

      • 148  Ingordo V, Gentile C, Iannazzone SS, Cusano F, Naldi L. The ‘EpiEnlist’ project: a dermo‐epidemiologic study on a representative sample of young Italian males. Prevalence of selected pigmentary lesions. J Eur Acad Dermatol Venereol 2007;21(8):1091–6. Cross Ref link Pubmed link
      • 149  Sciallis GF, Sciallis AP. Becker nevus with an underlying desmoid tumor: a case report and review including Mayo Clinic's experience. Arch Dermatol 2010;146(12):1408–12. Cross Ref link Pubmed link
      • 150  Happle R, Koopman RJ. Becker nevus syndrome. Am J Med Genet 1997;68(3):357–61. Cross Ref link Pubmed link
      • 151  Happle R, Koopman RJ. Becker nevus syndrome and supernumerary nipples. Am J Med Genet 1998;77(1):78. Cross Ref link Pubmed link
      • 152  Ro YS, Ko JY. Linear congenital Becker nevus. Cutis 2005;75(2):122–4. Pubmed link
      • 153  Schauder S, Hanefeld F, Noske UM, Zoll B. Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes? Br J Dermatol 2000;142(6):1204–7. Cross Ref link Pubmed link
      • 154  Moulin G, Hill MP, Guillaud V, Barrut D, Chevallier J, Thomas L. [Acquired atrophic pigmented band‐like lesions following Blaschko's lines.] Ann Dermatol Venereol 1992;119(10):729–36. Pubmed link
      • 155  Afshar M, Melancon J, Hata T. Photoletter to the editor: Linear atrophoderma of Moulin progressing slowly over 46 years. J Dermatolog Case Rep 2012;6(4):125–6.
      • 156  Villani AP, Amini‐Adle M, Wagschal D, Balme B, Thomas L. Linear atrophoderma of moulin: report of 4 cases and 20th anniversary case review. Dermatology 2013;227(1):5–9. Cross Ref link Pubmed link
      • 157  Danarti R, Bittar M, Happle R, Konig A. Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene. J Am Acad Dermatol 2003;49(3):492–8. Cross Ref link Pubmed link
      • 158  Happle R. A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. Arch Dermatol 1997;133(12):1505–9. Cross Ref link Pubmed link
      • 159  Poblete‐Gutierrez P, Wiederholt T, Konig A, et al. Allelic loss underlies type 2 segmental Hailey‐Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest 2004;114(10):1467–74. Cross Ref link Pubmed link
      • 160  Folster‐Holst R, Nellen RG, Jensen JM, et al. Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease. Br J Dermatol 2012;166(2):464–6. Cross Ref link Pubmed link
      • 161  Happle R. Superimposed segmental manifestation of polygenic skin disorders. Br J Dermatol 2007;57(4):690–9.

      Other developmental abnormalities affecting the skin

        Aplasia cutis congenita

        • 162  Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986;14(4):646–60. Cross Ref link Pubmed link
        • 163  Drolet B, Prendiville J, Golden J, Enjolras O, Esterly NB. 'Membranous aplasia cutis' with hair collars. Congenital absence of skin or neuroectodermal defect? Arch Dermatol 1995;131(12):1427–31. Cross Ref link Pubmed link
        • 164  Droubi D, Rothman IL. Aplasia cutis congenita of the arm with associated radial dysplasia: case report, review of the literature, and proposed classification. Pediatr Dermatol 2014;31(3):356–9. Cross Ref link Pubmed link
        • 165  Abuelo D, Feingold M. Scalp defects in trisomy 13. Clin Pediatr 1969;8(7):416–17. Cross Ref link
        • 166  Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C. The Wolf‐Hirschhorn syndrome in fetuses. Clin Genet 1992;42(6):281–7. Cross Ref link Pubmed link
        • 167  Hassed SJ, Wiley GB, Wang S, et al. RBPJ mutations identified in two families affected by Adams‐Oliver syndrome. Am J Hum Genet 2012;91(2):391–5. Cross Ref link Pubmed link
        • 168  Shaheen R, Aglan M, Keppler‐Noreuil K, et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal‐recessive Adams‐Oliver syndrome. Am J Hum Genet 2013;92(4):598–604. Cross Ref link Pubmed link
        • 169  Shaheen R, Faqeih E, Sunker A, et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams‐Oliver syndrome. Am J Hum Genet 2011;89(2):328–33. Cross Ref link Pubmed link
        • 170  Southgate L, Machado RD, Snape KM, et al. Gain‐of‐function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 2011;88(5):574–85. Cross Ref link Pubmed link
        • 171  Uyeda T, Echizenya T, Eto S, et al. Adams‐Oliver syndrome and familial MYH9 mutation. Pediatr Int 2012;54(3):407–9. Cross Ref link Pubmed link
        • 172  Chiaverini C, Charlesworth A, Fernandez A, et al. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. Br J Dermatol 2014;170(4):901–6. Cross Ref link Pubmed link
        • 173  Marneros AG. BMS1 is mutated in aplasia cutis congenita. PLOS Genet 2013;9(6):e1003573. Cross Ref link Pubmed link
        • 174  Indrieri A, van Rahden VA, Tiranti V, et al. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet 2012;91(5):942–9. Cross Ref link Pubmed link

        Congenital muscle hamartoma

        • 175  Slifman NR, Harrist TJ, Rhodes AR. Congenital arrector pili hamartoma. A case report and review of the spectrum of Becker's melanosis and pilar smooth‐muscle hamartoma. Arch Dermatol 1985;121(8):1034–7. Cross Ref link Pubmed link
        • 176  Zvulunov A, Rotem A, Merlob P, Metzker A. Congenital smooth muscle hamartoma. Prevalence, clinical findings, and follow‐up in 15 patients. Am J Dis Child 1990;144(7):782–4. Cross Ref link Pubmed link
        • 177  Hidano A, Purwoko R, Jitsukawa K. Statistical survey of skin changes in Japanese neonates. Pediatr Dermatol 1986;3(2):140–4. Cross Ref link Pubmed link
        • 178  Glover MT, Malone M, Atherton DJ. Michelin‐tire baby syndrome resulting from diffuse smooth muscle hamartoma. Pediatr Dermatol 1989;6(4):329–31. Cross Ref link Pubmed link
        • 179  Schnur RE, Herzberg AJ, Spinner N, et al. Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. J Am Acad Dermatol 1993;28(2 Pt 2):364–70. Cross Ref link Pubmed link
        • 180  Garcia‐Gavin J, Perez‐Perez L, Allegue F, Perez‐Pedrosa A, Ortiz‐Rey JA, Zulaica A. Multiple congenital familial smooth muscle hamartoma in two siblings. Dermatol Online J 2012;18(5):7. Pubmed link
        • 181  Gualandri L, Cambiaghi S, Ermacora E, Tadini G, Gianotti R, Caputo R. Multiple familial smooth muscle hamartomas. Pediatr Dermatol 2001;18(1):17–20. Cross Ref link Pubmed link
        • 182  Hendrick SJ, Sanchez RL, Blackwell SJ, Raimer SS. Striated muscle hamartoma: description of two cases. Pediatr Dermatol 1986;3(2):153–7. Cross Ref link Pubmed link
        • 183  Sanchez RL, Raimer SS. Clinical and histologic features of striated muscle hamartoma: possible relationship to Delleman's syndrome. J Cutan Pathol 1994;21(1):40–6. Cross Ref link Pubmed link

        Heterotrimeric G‐protein mosaic disorders

        • 184  Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterized by ­osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. N Engl J Med 1937;216:727–46. Cross Ref link
        • 185  Lumbroso S, Paris F, Sultan C. Activating Gsalpha mutations: analysis of 113 patients with signs of McCune‐Albright syndrome – a European Collaborative Study. J Clin Endocrinol Metab 2004;89(5):2107–13. Cross Ref link Pubmed link
        • 186  Pichard DC, Boyce AM, Collins MT, Cowen EW. Oral pigmentation in McCune‐Albright syndrome. JAMA Dermatol 2014;150(7):760–3. Cross Ref link Pubmed link
        • 187  Wasniewska M, Matarazzo P, Weber G, et al. Clinical presentation of McCune‐Albright syndrome in males. J Pediatr Endocrinol Metab 2006;19(Suppl. 2):619–22. Cross Ref link Pubmed link
        • 188  Diaz A, Danon M, Crawford J. McCune‐Albright syndrome and disorders due to activating mutations of GNAS1. J Pediatr Endocrinol Metab 2007;20(8):853–80. Cross Ref link Pubmed link
        • 189  Bousson V, Rey‐Jouvin C, Laredo JD, et al. Fibrous dysplasia and McCune‐Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow‐up guidelines. Eur J Radiol 2014;83(10):1828–42. Cross Ref link Pubmed link
        • 190  Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune‐Albright syndrome. N Engl J Med 1991;325(24):1688–95. Cross Ref link Pubmed link
        • 191  Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T. Quantitative and sensitive detection of GNAS mutations causing McCune‐Albright syndrome with next generation sequencing. PLoS One 2013;8(3):e60525. Cross Ref link Pubmed link
        • 192  Sturge WA. A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain. Trans Clin Soc Lond 1879;12:162–7.
        • 193  Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge‐Weber syndrome in patients with facial port‐wine stain. Pediatr Dermatol 2012;29(1):32–7. Cross Ref link Pubmed link
        • 194  Adams ME, Aylett SE, Squier W, Chong W. A spectrum of unusual neuroimaging findings in patients with suspected Sturge‐Weber syndrome. Am J Neuroradiol 2009;30(2):276–81. Cross Ref link Pubmed link
        • 195  Baselga E. Sturge‐Weber syndrome. Semin Cutan Med Surg 2004;23(2):87–98. Cross Ref link Pubmed link
        • 196  Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge‐Weber syndrome. Neurologist 2011;17(4):179–84. Cross Ref link Pubmed link
        • 197  Lo W, Marchuk DA, Ball KL, et al. Updates and future horizons on the understanding, diagnosis, and treatment of Sturge‐Weber syndrome brain involvement. Dev Med Child Neurol 2012;54(3):214–23. Cross Ref link Pubmed link
        • 198  Greene AK, Taber SF, Ball KL, Padwa BL, Mulliken JB. Sturge‐Weber syndrome: soft‐tissue and skeletal overgrowth. J Craniofac Surg 2009;20(Suppl. 1):617–21. Cross Ref link Pubmed link
        • 199  Mazereeuw‐Hautier J, Syed S, Harper JI. Bilateral facial capillary malformation associated with eye and brain abnormalities. Arch Dermatol 2006;142(8):994–8. Pubmed link
        • 200  Tallman B, Tan OT, Morelli JG, et al. Location of port‐wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics 1991;87(3):323–7. Pubmed link
        • 201  Waelchli R, Aylett SE, Robinson K, Chong KW, Martinez AE, Kinsler VA. New vascular classification of port‐wine stains: improving prediction of Sturge‐Weber risk. Br J Dermatol 2014;171(4):861–7. Cross Ref link Pubmed link
        • 202  Ch'ng S, Tan ST. Facial port‐wine stains – clinical stratification and risks of neuro‐ocular involvement. J Plast Reconstr Aesth Surg 2008;61(8):889–93. Cross Ref link
        • 203  Mehta M, Salas AH, Fay A. Trigeminal dermatome distribution in patients with glaucoma and facial port wine stain. Dermatology 2009;219(3):219–24. Cross Ref link Pubmed link
        • 204  Bay MJ, Kossoff EH, Lehmann CU, Zabel TA, Comi AM. Survey of aspirin use in Sturge‐Weber syndrome. J Child Neurol 2011;26(6):692–702. Cross Ref link Pubmed link
        • 205  Lance EI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM. Aspirin use in Sturge‐Weber syndrome: side effects and clinical outcomes. J Child Neurol 2013;28(2):213–18. Cross Ref link Pubmed link
        • 206  Shirley MD, Tang H, Gallione CJ, et al. Sturge‐Weber syndrome and port‐wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013;368(21):1971–9. Cross Ref link Pubmed link
        • 207  Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16(4):899–906. Cross Ref link Pubmed link
        • 208  Ota M, Kawamura T, Ito N. Phakomatosis pigmentovascularis. Jpn J Dermatol 1947;52:1–31.
        • 209  Vidaurri‐de la CH, Tamayo‐Sanchez L, Duran‐Mckinster C, Orozco‐Covarrubias ML, Ruiz‐Maldonado R. Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients. J Dermatol 2003;30(5):381–8. Cross Ref link Pubmed link
        • 210  Hasegawa Y, Yasuhara, M. A variant of phakomatosis pigmentovascularis. Skin Res 1979;21:178–86.
        • 211  Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005;141(3):385–8. Cross Ref link Pubmed link
        • 212  Shields CL, Kligman BE, Suriano M, et al. Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. Arch Ophthalmol 2011;129(6):746–50. Cross Ref link Pubmed link
        • 213  Teekhasaenee C, Ritch R. Glaucoma in phakomatosis pigmentovascularis. Ophthalmology 1997;104(1):150–7. Cross Ref link Pubmed link
        • 214  Krema H, Simpson R, McGowan H. Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. Can J Ophthalmol 2013;48(3):e41–2. Cross Ref link Pubmed link
        • 215  Tran HV, Zografos L. Primary choroidal melanoma in phakomatosis pigmentovascularis IIa. Ophthalmology 2005;112(7):1232–5. Cross Ref link Pubmed link
        • 216  Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363(23):2191–9. Cross Ref link Pubmed link
        • 217  Thomas AC, Zeng Z, Rivière JB, et al. Mosaic activating mutations in GNA11 cause phakomatosis pigmentovascularis. Submitted March 2015.
        • 218  Danarti R, Happle R. Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. Eur J Dermatol 2003;13(6):612. Pubmed link