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Analysis of 54 Cases of Hypopigmentation and Hyperpigmentation Along the Lines of Blaschko

Analysis of 54 Cases of Hypopigmentation and Hyperpigmentation Along the Lines of Blaschko Abstract Objective: To define the spectrum of disease in cases of hypopigmentation and hyperpigmentation along the lines of Blaschko more accurately. Pigmentary anomalies along the lines of Blaschko, including hypomelanosis of Ito, linear and whorled nevoid hypermelanosis, and nevus depigmentosus, can be associated with notable abnormal systemic features. We believe that the incidence of associated abnormal features described in previous studies is exaggerated owing to referral and reporting bias. Design: Retrospective review of case series. Setting: An ambulatory, university hospital, pediatric dermatology practice and a large, city hospital, pediatric dermatology clinic. Patients: Fifty-four children referred consecutively over a 5-year period for evaluation of segmental, linear, or swirled hypopigmentation and/or hyperpigmentation along the lines of Blaschko. Main Outcome Measure: Incidence of associated abnormal systemic features. Results: Extracutaneous abnormal features were present in 16 (30%) of 54 children with aberrant pigmentation along the lines of Blaschko: in 9 (33%) of 27 with hypomelanosis of Ito, in 4 (31%) of 13 with linear and whorled nevoid hypermelanosis, in 1 (11%) of 9 with nevus depigmentosus, and in 2 (40%) of 5 with coexistent hypopigmentation and hyperpigmentation. Conclusions: Pigmentary anomalies along the lines of Blaschko are associated with abnormal systemic features far less often than has been reported previously. These pigmentary anomalies should not be considered distinct syndromes but rather grouped as a heterogeneous collection of disorders indicative of underlying genetic mosaicism. Such a classification will allow better understanding and evaluation of affected persons.Arch Dermatol. 1996;132:1167-1170 References 1. Blaschko A. Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut . In: Beilage zu den Verhandlungen der Deutschen Dermatologischen Gesellschaft: VII. Congress zu Breslau, Mai 1901 . Vienna, Austria: Braumüller; 1901. 2. Bolognia JL, Orlow SJ, Glick SA. Lines of Blaschko . J Am Acad Dermatol. 1994; 31:157-190.Crossref 3. Happle R. Lyonization and the lines of Blaschko . Hum Genet. 1985;70:200-206.Crossref 4. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin . Am Acad Dermatol. 1987;16:899-906.Crossref 5. Happle R. Pigmentary patterns associated with human mosaicism: a proposed classification . Eur J Dermatol. 1993;3:170-174. 6. Happle R. Mosaicism in human skin . Arch Dermatol. 1993;129:1460-1470.Crossref 7. Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism . Am J Hum Genet. 1989;45:193-205. 8. Loomis CA, Orlow SJ. Cutaneous findings in mosaicism and chimerism . Curr Opin Dermatol. 1996;3:87-92.Crossref 9. Jelinek JE, Bart RS, Schiff GM. Hypomelanosis of Ito (incontinentia pigmentia achromians): report of three cases and review of the literature . Arch Dermatol. 1973;107:596-601.Crossref 10. Ito M. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis . Tohoku J Exp Med. 1952;55:57-59.Crossref 11. Battistella PA, Peserico A, Bertoli P, Drigo P, Laverda AM, Casara GL. Hypomelanosis of Ito and hemimegalencephaly . Childs Nerv Syst. 1990;6:421-423.Crossref 12. Malherbe V, Pariente D, Tardieu M, et al. Central nervous system lesions in hypomelanosis of Ito: an MRI and pathologic study . J Neurol. 1993;240:302-304.Crossref 13. Zappella M. Autism and hypomelanosis of Ito in twins . Dev Med Child Neurol. 1993;35:826-832.Crossref 14. Kimura M, Yoshino K, Maeoka Y, Suzuki N. Hypomelanosis of Ito: MR findings . Pediatr Radiol. 1994;24:68-69.Crossref 15. Stricker M, Meley JM, Chassagne F, Beurey J. Congenital craniofacial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report . Br J Plast Surg. 1984;37:472-476.Crossref 16. Hamada T, Saito R, Sugai T, Morita Y. Incontinentia pigmenti achromians (Ito) . Arch Dermatol. 1967;96:673-676Crossref 17. Buzas JW, Sina B, Burnett JW. Hypomelanosis of Ito: report of a case and review of the literature . Am Acad Dermatol. 1981;4:195-204.Crossref 18. Takematsu H, Sato S, Igarashi M, Seiji M. Incontinentia pigmenti achromians (Ito) . Arch Dermatol. 1983;119:391-395.Crossref 19. Zvulunov A, Esterly NB. Neurocutaneous syndromes associated with pigmentary skin lesions . J Am Acad Dermatol. 1995;32:915-935.Crossref 20. Schwartz MF, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome . J Pediatr. 1977;90:236-240.Crossref 21. Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: spectrum of disease . J Pediatr. 1989;115:75-80.Crossref 22. Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Herrero CR. Hypomelanosis of Ito: neurological complications in 34 cases . Can J Neurol Sci. 1988;15:124-129. 23. Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases . Pediatr Dermatol. 1992;9:1-10.Crossref 24. Fryns JP, Lemaire J, Timmermans J, Soekarman D, Van den Berghe H. The association of hemifacial microsomia, homolateral micro/anophthalmos, hemi-hypotrophy, dental anomalies, submucous cleft palate, CNS malformations and hypopigmented skin lesions following Blaschko's lines in two unrelated female patients: further evidence for a lethal mutation surviving in mosaic form in 'hypomelanosis of Ito.' Genet Couns. 1993;4:63-67. 25. Jenkins D, Martin K, Young ID. Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis . J Med Genet. 1993;30:783-784.Crossref 26. Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism . J Med Genet. 1988;25:809-818.Crossref 27. Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito . J Pediatr. 1990;116:581-586.Crossref 28. Kalter DC, Griffiths WA, Atherton DJ. Linear and whorled nevoid hypermelanosis . J Am Acad Dermatol. 1988;19:1037-1044.Crossref 29. Iijima S, Naito Y, Naito S, Uyeno K. Reticulate hyperpigmentation distributed in a zosteriform fashion: a new clinical type of hyperpigmentation . Br J Dermatol. 1987;117:503-510.Crossref 30. Bjorngren H, Hoist R. Reticulate hyperpigmentation of Iijima, Naito, and Uyeno: a European case . Acta Dermatol Venereol (Stockh) . 1991;71:248-250. 31. Kanwar AJ. Linear and whorled nevoid hypermelanosis . Int J Dermatol. 1993; 32:385-386.Crossref 32. Alvarez J, Peteiro C, Toribio J. Linear and whorled nevoid hypermelanosis . Pediatr Dermatol. 1993;10:156-158.Crossref 33. Akiyama M, Aranami A, Sasaki Y, Ebihara T, Sugiura M. Familial linear and whorled nevoid hypermelanosis . J Am Acad Dermatol. 1994;30:831-833.Crossref 34. Port M, Courniotes J, Podwal M. Zosteriform lentiginous naevus with ipsilateral rigid cavus foot . Br J Dermatol. 1978;98:693-698.Crossref 35. Alimurung FM, Lapenas D, Willis I, Lang P. Zebra-like hyperpigmentation in an infant with multiple congenital defects . Arch Dermatol. 1979;115:878-881.Crossref 36. Kubota Y, Shimura Y. Linear and whorled nevoid hypermelanosis in a child with chromosomal mosaicism . Int J Dermatol. 1992;31:345-347.Crossref 37. Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. Three patients with ring (X) chromosomes and a severe phenotype . J Med Genet. 1993;30:482-486.Crossref 38. Woods CG, Bankier A, Curry J, et al. Asymmetry and skin pigmentary anomalies in chromosome mosaicism . J Med Genet. 1994;31:694-701.Crossref 39. Stanley WS, Powell CM, Devine GC, et al. Mosaic 5p tetrasomy . Am J Med Genet. 1993;45:774-776.Crossref 40. Francis JS, Sybert VP. Update on incontinentia pigmenti . Curr Opin Dermatol. 1995;2:55-60.Crossref 41. Ment L, Alper J, Sirota RL, Holmes LB. Infant with abnormal pigmentation, malformations, and immune deficiency . Arch Dermatol. 1978;114:1043-1044.Crossref 42. Bocian E, Mazurczak T, Bulawa E, Stanczak H, Rowicka G. Triple structure mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation . J Med Genet. 1993;30:614-615.Crossref 43. Bolognia JL, Pawelek JM. Biology of hypopigmentation . J Am Acad Dermatol. 1988;19:217-247.Crossref 44. Orlow SJ. Congenital and genetic disorders associated with hypopigmentation . Curr Probl Dermatol. 1994;6:157-184.Crossref 45. Sugarman GI, Reed WB. Two unusual neurocutaneous disorders with facial cutaneous signs . Arch Neurol. 1969;21:242-247.Crossref 46. Fitzpatrick TB. In Berg M, Tarnowski W. Nevus depigmentosus . Arch Dermatol. 1974;109:920-921.Crossref 47. Dhar S, Kanwar AJ, Kaur S. Nevus depigmentosus in India: experience with 50 patients . Pediatr Dermatol. 1993;10:299-300.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Analysis of 54 Cases of Hypopigmentation and Hyperpigmentation Along the Lines of Blaschko

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Publisher
American Medical Association
Copyright
Copyright © 1996 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1996.03890340027005
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Abstract

Abstract Objective: To define the spectrum of disease in cases of hypopigmentation and hyperpigmentation along the lines of Blaschko more accurately. Pigmentary anomalies along the lines of Blaschko, including hypomelanosis of Ito, linear and whorled nevoid hypermelanosis, and nevus depigmentosus, can be associated with notable abnormal systemic features. We believe that the incidence of associated abnormal features described in previous studies is exaggerated owing to referral and reporting bias. Design: Retrospective review of case series. Setting: An ambulatory, university hospital, pediatric dermatology practice and a large, city hospital, pediatric dermatology clinic. Patients: Fifty-four children referred consecutively over a 5-year period for evaluation of segmental, linear, or swirled hypopigmentation and/or hyperpigmentation along the lines of Blaschko. Main Outcome Measure: Incidence of associated abnormal systemic features. Results: Extracutaneous abnormal features were present in 16 (30%) of 54 children with aberrant pigmentation along the lines of Blaschko: in 9 (33%) of 27 with hypomelanosis of Ito, in 4 (31%) of 13 with linear and whorled nevoid hypermelanosis, in 1 (11%) of 9 with nevus depigmentosus, and in 2 (40%) of 5 with coexistent hypopigmentation and hyperpigmentation. Conclusions: Pigmentary anomalies along the lines of Blaschko are associated with abnormal systemic features far less often than has been reported previously. These pigmentary anomalies should not be considered distinct syndromes but rather grouped as a heterogeneous collection of disorders indicative of underlying genetic mosaicism. Such a classification will allow better understanding and evaluation of affected persons.Arch Dermatol. 1996;132:1167-1170 References 1. Blaschko A. Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut . In: Beilage zu den Verhandlungen der Deutschen Dermatologischen Gesellschaft: VII. Congress zu Breslau, Mai 1901 . Vienna, Austria: Braumüller; 1901. 2. Bolognia JL, Orlow SJ, Glick SA. Lines of Blaschko . J Am Acad Dermatol. 1994; 31:157-190.Crossref 3. Happle R. Lyonization and the lines of Blaschko . Hum Genet. 1985;70:200-206.Crossref 4. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin . Am Acad Dermatol. 1987;16:899-906.Crossref 5. Happle R. Pigmentary patterns associated with human mosaicism: a proposed classification . Eur J Dermatol. 1993;3:170-174. 6. Happle R. Mosaicism in human skin . Arch Dermatol. 1993;129:1460-1470.Crossref 7. Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism . Am J Hum Genet. 1989;45:193-205. 8. Loomis CA, Orlow SJ. Cutaneous findings in mosaicism and chimerism . Curr Opin Dermatol. 1996;3:87-92.Crossref 9. Jelinek JE, Bart RS, Schiff GM. Hypomelanosis of Ito (incontinentia pigmentia achromians): report of three cases and review of the literature . Arch Dermatol. 1973;107:596-601.Crossref 10. Ito M. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis . Tohoku J Exp Med. 1952;55:57-59.Crossref 11. Battistella PA, Peserico A, Bertoli P, Drigo P, Laverda AM, Casara GL. Hypomelanosis of Ito and hemimegalencephaly . Childs Nerv Syst. 1990;6:421-423.Crossref 12. Malherbe V, Pariente D, Tardieu M, et al. Central nervous system lesions in hypomelanosis of Ito: an MRI and pathologic study . J Neurol. 1993;240:302-304.Crossref 13. Zappella M. Autism and hypomelanosis of Ito in twins . Dev Med Child Neurol. 1993;35:826-832.Crossref 14. Kimura M, Yoshino K, Maeoka Y, Suzuki N. Hypomelanosis of Ito: MR findings . Pediatr Radiol. 1994;24:68-69.Crossref 15. Stricker M, Meley JM, Chassagne F, Beurey J. Congenital craniofacial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report . Br J Plast Surg. 1984;37:472-476.Crossref 16. Hamada T, Saito R, Sugai T, Morita Y. Incontinentia pigmenti achromians (Ito) . Arch Dermatol. 1967;96:673-676Crossref 17. Buzas JW, Sina B, Burnett JW. Hypomelanosis of Ito: report of a case and review of the literature . Am Acad Dermatol. 1981;4:195-204.Crossref 18. Takematsu H, Sato S, Igarashi M, Seiji M. Incontinentia pigmenti achromians (Ito) . Arch Dermatol. 1983;119:391-395.Crossref 19. Zvulunov A, Esterly NB. Neurocutaneous syndromes associated with pigmentary skin lesions . J Am Acad Dermatol. 1995;32:915-935.Crossref 20. Schwartz MF, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome . J Pediatr. 1977;90:236-240.Crossref 21. Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: spectrum of disease . J Pediatr. 1989;115:75-80.Crossref 22. Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Herrero CR. Hypomelanosis of Ito: neurological complications in 34 cases . Can J Neurol Sci. 1988;15:124-129. 23. Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases . Pediatr Dermatol. 1992;9:1-10.Crossref 24. Fryns JP, Lemaire J, Timmermans J, Soekarman D, Van den Berghe H. The association of hemifacial microsomia, homolateral micro/anophthalmos, hemi-hypotrophy, dental anomalies, submucous cleft palate, CNS malformations and hypopigmented skin lesions following Blaschko's lines in two unrelated female patients: further evidence for a lethal mutation surviving in mosaic form in 'hypomelanosis of Ito.' Genet Couns. 1993;4:63-67. 25. Jenkins D, Martin K, Young ID. Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis . J Med Genet. 1993;30:783-784.Crossref 26. Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism . J Med Genet. 1988;25:809-818.Crossref 27. Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito . J Pediatr. 1990;116:581-586.Crossref 28. Kalter DC, Griffiths WA, Atherton DJ. Linear and whorled nevoid hypermelanosis . J Am Acad Dermatol. 1988;19:1037-1044.Crossref 29. Iijima S, Naito Y, Naito S, Uyeno K. Reticulate hyperpigmentation distributed in a zosteriform fashion: a new clinical type of hyperpigmentation . Br J Dermatol. 1987;117:503-510.Crossref 30. Bjorngren H, Hoist R. Reticulate hyperpigmentation of Iijima, Naito, and Uyeno: a European case . Acta Dermatol Venereol (Stockh) . 1991;71:248-250. 31. Kanwar AJ. Linear and whorled nevoid hypermelanosis . Int J Dermatol. 1993; 32:385-386.Crossref 32. Alvarez J, Peteiro C, Toribio J. Linear and whorled nevoid hypermelanosis . Pediatr Dermatol. 1993;10:156-158.Crossref 33. Akiyama M, Aranami A, Sasaki Y, Ebihara T, Sugiura M. Familial linear and whorled nevoid hypermelanosis . J Am Acad Dermatol. 1994;30:831-833.Crossref 34. Port M, Courniotes J, Podwal M. Zosteriform lentiginous naevus with ipsilateral rigid cavus foot . Br J Dermatol. 1978;98:693-698.Crossref 35. Alimurung FM, Lapenas D, Willis I, Lang P. Zebra-like hyperpigmentation in an infant with multiple congenital defects . Arch Dermatol. 1979;115:878-881.Crossref 36. Kubota Y, Shimura Y. Linear and whorled nevoid hypermelanosis in a child with chromosomal mosaicism . Int J Dermatol. 1992;31:345-347.Crossref 37. Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. Three patients with ring (X) chromosomes and a severe phenotype . J Med Genet. 1993;30:482-486.Crossref 38. Woods CG, Bankier A, Curry J, et al. Asymmetry and skin pigmentary anomalies in chromosome mosaicism . J Med Genet. 1994;31:694-701.Crossref 39. Stanley WS, Powell CM, Devine GC, et al. Mosaic 5p tetrasomy . Am J Med Genet. 1993;45:774-776.Crossref 40. Francis JS, Sybert VP. Update on incontinentia pigmenti . Curr Opin Dermatol. 1995;2:55-60.Crossref 41. Ment L, Alper J, Sirota RL, Holmes LB. Infant with abnormal pigmentation, malformations, and immune deficiency . Arch Dermatol. 1978;114:1043-1044.Crossref 42. Bocian E, Mazurczak T, Bulawa E, Stanczak H, Rowicka G. Triple structure mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation . J Med Genet. 1993;30:614-615.Crossref 43. Bolognia JL, Pawelek JM. Biology of hypopigmentation . J Am Acad Dermatol. 1988;19:217-247.Crossref 44. Orlow SJ. Congenital and genetic disorders associated with hypopigmentation . Curr Probl Dermatol. 1994;6:157-184.Crossref 45. Sugarman GI, Reed WB. Two unusual neurocutaneous disorders with facial cutaneous signs . Arch Neurol. 1969;21:242-247.Crossref 46. Fitzpatrick TB. In Berg M, Tarnowski W. Nevus depigmentosus . Arch Dermatol. 1974;109:920-921.Crossref 47. Dhar S, Kanwar AJ, Kaur S. Nevus depigmentosus in India: experience with 50 patients . Pediatr Dermatol. 1993;10:299-300.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Oct 1, 1996

References