Congenital Dermal Melanocytosis (Mongolian Spot) Differential Diagnoses

1. Gupta D, Thappa DM. Mongolian spots: How important are they?. World J Clin Cases. 2013 Nov 16. 1 (8):230-2. [QxMD MEDLINE Link].

2. Baykal C, Yılmaz Z, Sun GP, Büyükbabani N. The spectrum of benign dermal dendritic melanocytic proliferations. J Eur Acad Dermatol Venereol. 2019 Feb 14. [QxMD MEDLINE Link].

3. Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, et al. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. J Invest Dermatol. 2016 Apr. 136 (4):770-8. [QxMD MEDLINE Link].

4. Monteagudo B, Labandeira J, León-Muiños E, Carballeira I, Corrales A, Cabanillas M. [Prevalence of birthmarks and transient skin lesions in 1,000 Spanish newborns]. Actas Dermosifiliogr. 2011 May. 102(4):264-9. [QxMD MEDLINE Link].

5. Kanada KN, Merin MR, Munden A, Friedlander SF. A prospective study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature. J Pediatr. 2012 Aug. 161(2):240-5. [QxMD MEDLINE Link].

6. Cordova A. The Mongolian spot: a study of ethnic differences and a literature review. Clin Pediatr (Phila). 1981 Nov. 20(11):714-9. [QxMD MEDLINE Link].

7. Reza AM, Farahnaz GZ, Hamideh S, Alinaghi SA, Saeed Z, Mostafa H. Incidence of Mongolian spots and its common sites at two university hospitals in Tehran, Iran. Pediatr Dermatol. 2010 Jul-Aug. 27(4):397-8. [QxMD MEDLINE Link].

8. Zagne V, Fernandes NC. Dermatoses in the first 72 h of life: A clinical and statistical survey. Indian J Dermatol Venereol Leprol. 2011 Jul-Aug. 77(4):470-6. [QxMD MEDLINE Link].

9. Bilgili SG, Akdeniz N, Karadag AS, Akbayram S, Calka O, Ozkol HU. Mucocutaneous disorders in children with down syndrome: case-controlled study. Genet Couns. 2011. 22(4):385-92. [QxMD MEDLINE Link].

10. Franceschini D, Dinulos JG. Dermal melanocytosis and associated disorders. Curr Opin Pediatr. 2015 Aug. 27 (4):480-5. [QxMD MEDLINE Link].

11. Shirakawa M, Ozawa T, Ohasi N, Ishii M, Harada T. Comparison of regional efficacy and complications in the treatment of aberrant Mongolian spots with the Q-switched ruby laser. J Cosmet Laser Ther. 2010 Jun. 12(3):138-42. [QxMD MEDLINE Link].

12. Gupta D, Thappa DM. Mongolian spots--a prospective study. Pediatr Dermatol. 2013 Nov-Dec. 30 (6):683-8. [QxMD MEDLINE Link].

13. Uehara M, Hatano Y, Kato A, Shimizu F, Sato S, Kashima K. Two cases of congenital aplasia cutis with dermal melanocytosis. J Dermatol. 2012 May. 39(5):501-3. [QxMD MEDLINE Link].

14. Fujita Y, Yokota K, Akiyama M, Machino S, Inokuma D, Arita K. Two cases of atypical membranous aplasia cutis with hair collar sign: one with dermal melanocytosis, and the other with naevus flammeus. Clin Exp Dermatol. 2005 Sep. 30(5):497-9. [QxMD MEDLINE Link].

15. Leung AK, Kao CP, Leung AA. Persistent Mongolian spots in Chinese adults. Int J Dermatol. 2005 Jan. 44(1):43-5. [QxMD MEDLINE Link].

16. Leung AK, Kao CP. Extensive mongolian spots with involvement of the scalp. Pediatr Dermatol. 1999 Sep-Oct. 16(5):371-2. [QxMD MEDLINE Link].

17. Leung AK, Kao CP, Lee TK. Mongolian spots with involvement of the temporal area. Int J Dermatol. 2001 Apr. 40(4):288-9. [QxMD MEDLINE Link].

18. Afsar FS, Seremet Uysal S. Unusual localization of mongolian spot in a Caucasian infant. Minerva Pediatr. 2015 Nov 4. [QxMD MEDLINE Link].

19. Ma H, Liao M, Qiu S, Luo R, Lu R, Lu C. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. An Bras Dermatol. 2015 Jun. 90 (3 Suppl 1):10-2. [QxMD MEDLINE Link].

20. Leung AK, Robson WL. Superimposed Mongolian spots. Pediatr Dermatol. 2008 Mar-Apr. 25(2):233-5. [QxMD MEDLINE Link].

21. Igawa HH, Ohura T, Sugihara T, Ishikawa T, Kumakiri M. Cleft lip mongolian spot: mongolian spot associated with cleft lip. J Am Acad Dermatol. 1994 Apr. 30(4):566-9. [QxMD MEDLINE Link].

22. Mosher DB, Fitzpatrick TB, Yoshiaki H, et al. Disorders of pigmentation. Fitzpatrick TB, ed. Dermatology in General Medicine. New York, NY: McGraw-Hill; 1993. Vol 1: 903-95.

23. Achtelik W, Tronnier M, Wolff HH. [Combined naevus flammeus and naevus fuscocoeruleus: phacomatosis pigmentovascularis type IIa]. Hautarzt. 1997 Sep. 48(9):653-6. [QxMD MEDLINE Link].

24. Huang C, Lee P. Phakomatosis pigmentovascularis IIb with renal anomaly. Clin Exp Dermatol. 2000 Jan. 25(1):51-4. [QxMD MEDLINE Link].

25. Kawara S, Takata M, Hirone T, Tomita K, Hamaoka H. [A new variety of neurocutaneous melanosis: benign leptomeningeal melanocytoma associated with extensive Mongolian spot on the back]. Nippon Hifuka Gakkai Zasshi. 1989 Apr. 99(5):561-6. [QxMD MEDLINE Link].

26. Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol. 2006 Mar. 20(3):308-10. [QxMD MEDLINE Link].

27. Uysal G, Guven A, Ozhan B, Ozturk MH, Mutluay AH, Tulunay O. Phakomatosis pigmentovascularis with Sturge-Weber syndrome: a case report. J Dermatol. 2000 Jul. 27(7):467-70. [QxMD MEDLINE Link].

28. Van Gysel D, Oranje AP, Stroink H, Simonsz HJ. Phakomatosis pigmentovascularis. Pediatr Dermatol. 1996 Jan-Feb. 13(1):33-5. [QxMD MEDLINE Link].

29. Inamadar AC, Palit A. Persistent, aberrant Mongolian spots in Sjogren-Larsson syndrome. Pediatr Dermatol. 2007 Jan-Feb. 24(1):98-9. [QxMD MEDLINE Link].

30. Rybojad M, Moraillon I, Ogier de Baulny H, Prigent F, Morel P. [Extensive Mongolian spot related to Hurler disease]. Ann Dermatol Venereol. 1999 Jan. 126(1):35-7. [QxMD MEDLINE Link].

31. Kumar Bhardwaj N, Khera D. Mongolian Spots in GM1 Gangliosidosis. Indian Pediatr. 2016 Dec 15. 53 (12):1133. [QxMD MEDLINE Link].

32. Bersani G, Guerriero C, Ricci F, Valentini P, Zampino G, Lazzareschi I, et al. Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. J Dtsch Dermatol Ges. 2016 Mar. 14 (3):301-2. [QxMD MEDLINE Link].

33. Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol. 2003 Jun. 148(6):1173-8. [QxMD MEDLINE Link].

34. Mimouni-Bloch A, Finezilber Y, Rothschild M, Raas-Rothschild A. Extensive Mongolian Spots and Lysosomal Storage Diseases. J Pediatr. 2016 Mar. 170:333-e1. [QxMD MEDLINE Link].

35. Snow TM. Mongolian spots in the newborn: do they mean anything?. Neonatal Netw. 2005 Jan-Feb. 24(1):31-3. [QxMD MEDLINE Link].

36. Ziegler A, Guichet A, Pinson L, Barth M, Levade T, Bonneau D, et al. Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). Clin Dysmorphol. 2014 Jul. 23 (3):109-10. [QxMD MEDLINE Link].

37. Sharawat IK, Saini L, Randhawa MS, Ahuja CK. Extensive Mongolian spots and normocephaly: an uncommon presentation of infantile Sandhoff's disease. BMJ Case Rep. 2018 Jul 30. 2018:[QxMD MEDLINE Link].

38. Köse O, Huseynov S, Demiriz M. Giant Mongolian macules with bilateral ocular involvement: case report and review. Dermatology. 2012. 224(2):126-9. [QxMD MEDLINE Link].

39. Ma H, Liao M, Qiu S, Luo R, Lu R, Lu C. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. An Bras Dermatol. 2015 May-Jun. 90 (3 Suppl 1):10-2. [QxMD MEDLINE Link].

40. Viada Peláez MC, Stefano PC, Cirio A, Cervini AB. [Phakomatosis pigmentovascularis cesioflammea: a case report]. Arch Argent Pediatr. 2018 Feb 1. 116 (1):e121-e124. [QxMD MEDLINE Link].

41. Hayashi S, Kaminaga T, Tantcheva-Poor I, Hamasaki Y, Hatamochi A. Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. J Dermatol. 2016 Feb. 43 (2):225-6. [QxMD MEDLINE Link].

42. Neri I, Lambertini M, Tengattini V, Rivalta B, Patrizi A. Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot. Pediatr Dermatol. 2017 May. 34 (3):e152-e153. [QxMD MEDLINE Link].

43. Temel AB, Bassorgun CI, Nur B, Alpsoy E. Mongolian spots combined with halo-like disappearance surrounding café au lait spots. Indian J Dermatol Venereol Leprol. 2018 Jul-Aug. 84 (4):474-477. [QxMD MEDLINE Link].

44. AlJasser M, Al-Khenaizan S. Cutaneous mimickers of child abuse: a primer for pediatricians. Eur J Pediatr. 2008 Nov. 167(11):1221-30. [QxMD MEDLINE Link].

45. Pessach Y, Goldberg I, Sprecher E, Gat A, Harel A. An unusual presentation of congenital dermal melanocytosis fitting the rare diagnosis of dermal melanocyte hamartoma. Cutis. 2014 Oct. 94 (4):E16-7. [QxMD MEDLINE Link].

46. Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Extensive Mongolian spots: a clinical sign merits special attention. Pediatr Neurol. 2006 Feb. 34(2):143-5. [QxMD MEDLINE Link].

47. Kagami S, Asahina A, Watanabe R, et al. Laser treatment of 26 Japanese patients with Mongolian spots. Dermatol Surg. 2008 Dec. 34(12):1689-94. [QxMD MEDLINE Link].

48. Shirakawa M, Ozawa T, Tateishi C, Fujii N, Sakahara D, Ishii M. Intense pulsed light therapy for aberrant Mongolian spots. Osaka City Med J. 2012 Dec. 58 (2):59-65. [QxMD MEDLINE Link].

49. Ohshiro T, Ohshiro T, Sasaki K, Kishi K. Picosecond pulse duration laser treatment for dermal melanocytosis in Asians : A retrospective review. Laser Ther. 2016 Jun 29. 25 (2):99-104. [QxMD MEDLINE Link].

Abdul-Ghani Kibbi, MD, FACP Professor and Chair, Department of Dermatology, American University of Beirut Medical Center, Lebanon

Disclosure: Nothing to disclose.

Christina M Bergqvist, MD Resident Physician, Department of Dermatology, American University of Beirut Medical Center

Disclosure: Nothing to disclose.

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Edward F Chan, MD Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Ponciano D Cruz, Jr, MD Professor and Vice-Chair, Paul R Bergstresser Chair, Department of Dermatology, University of Texas Southwestern Medical Center

Ponciano D Cruz, Jr, MD is a member of the following medical societies: Texas Medical Association

Disclosure: Received consulting fee from RCTS for independent contractor; Received honoraria from Mary Kay Cosmetics for consulting; Received grant/research funds from Galderma for principal investigator.

Zeina Tannous, MD Associate Professor and Chair, Lebanese American University; Chief of Dermatology, University Medical Center, Rizk Hospital, Lebanon; Visiting Associate Professor in Dermatology, Harvard Medical School; Clinical Associate in Dermatology, Massachusetts General Hospital

Zeina Tannous, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Mohs Surgery, American Society for Dermatologic Surgery, American Society for Laser Medicine and Surgery, International Society of Cosmetic and Laser Surgeons, International Academy of Cosmetic Dermatology, Lebanese Dermatological Society, Lebanese Order of Physicians

Disclosure: Nothing to disclose.

Mazen Kurban, MD Staff Physician, Department of Dermatology, American University of Beirut Medical Center

Mazen Kurban, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Ruba Faik Bahhady, MD Senior Specialist, Department of Dermatology, American University of Beirut Medical Center

Disclosure: Nothing to disclose.

Dana I Harb, MD Resident Physician, Department of Dermatology, American University of Beirut Medical Center

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article