Haberland Syndrome (Encephalocraniocutaneous Lipomatosis) Differential Diagnoses

1. Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol. 1970 Feb. 22(2):144-55. [QxMD MEDLINE Link].

2. Karaman ZF, Özüdoğru ŞE. Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature. Childs Nerv Syst. 2021 Dec. 37 (12):3951-3955. [QxMD MEDLINE Link].

3. Fishman MA, Chang CS, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics. 1978 Apr. 61(4):580-2. [QxMD MEDLINE Link].

4. Moss HE. Objective Measures of Visual Function in Papilledema. Adv Ophthalmol Optom. 2016 Aug. 1 (1):231-247. [QxMD MEDLINE Link].

5. Zielinska-Kazmierska B, Grodecka J, Jablonska-Polakowska L, Arkuszewski P. Mandibular osteoma in the encephalocraniocutaneous lipomatosis. J Craniomaxillofac Surg. 2005 Aug. 33(4):286-9. [QxMD MEDLINE Link].

6. Koishi GN, Yoshida M, Alonso N, Matushita H, Goldenberg D. Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. Clinics. 2008 Jun. 63(3):406-8. [QxMD MEDLINE Link].

7. Roszkowski M, Dabrowski D. [Encephalo-cranio-cutaneous lipomatosis (ECCL) -- Haberland syndrome. A case report with review of the literature]. Neurol Neurochir Pol. 1997 May-Jun. 31(3):607-13. [QxMD MEDLINE Link].

8. Chiang CC, Lin SC, Wu HM, Wang JC, Yang TF, Chen HH, et al. Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis--a case report and review of the literature. Childs Nerv Syst. 2014 Jan. 30 (1):13-7. [QxMD MEDLINE Link].

9. Happle R, Steijlen PM. [Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype]. Hautarzt. 1993 Jan. 44(1):19-22. [QxMD MEDLINE Link].

10. Cultrera F, Guarnera F, Giardina MC. Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis. Minerva Pediatr. 2004 Apr. 56(2):219-22. [QxMD MEDLINE Link].

11. Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet. 1995 Apr. 32(4):316-9. [QxMD MEDLINE Link].

12. Donaire A, Carreno M, Bargallo N, Setoaín X, Agudo R, Martin G, et al. Presurgical evaluation and cognitive functional reorganization in Fishman syndrome. Epilepsy Behav. 2005 May. 6(3):440-3. [QxMD MEDLINE Link].

13. Ayer RE, Zouros A. Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr. 2011 Sep. 8(3):316-20. [QxMD MEDLINE Link].

14. Zamorano Martín F, García Lorente M, Rocha de Lossada C, et al. Haberland syndrome with bilateral ocular involvement. Arch Soc Esp Oftalmol (Engl Ed). 2021 Jan. 96 (1):45-47. [QxMD MEDLINE Link].

15. Hauber K, Warmuth-Metz M, Rose C, Brocker EB, Hamm H. Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature. Eur J Pediatr. 2003 Sep. 162(9):589-93. [QxMD MEDLINE Link].

16. Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009 Nov. 46 (11):721-9. [QxMD MEDLINE Link].

17. Bennett JT, Tan TY, Alcantara D, et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3. 98 (3):579-587. [QxMD MEDLINE Link].

18. Happle R, Horster S. Nevus psiloliparus: report of two nonsyndromic cases. Eur J Dermatol. 2004 Sep-Oct. 14(5):314-6. [QxMD MEDLINE Link].

19. Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS. Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol. 2007 Jan-Feb. 73(1):40-2. [QxMD MEDLINE Link].

20. Stieler KM, Astner S, Bohner G, Bartels NG, Proquitte H, Sterry W, et al. Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. Arch Dermatol. 2008 Feb. 144(2):266-8. [QxMD MEDLINE Link].

21. Almer Z, Vishnevskia-Dai V, Zadok D. Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea. 2003 May. 22(4):389-90. [QxMD MEDLINE Link].

22. Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F. Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. Eur J Paediatr Neurol. 2007 Mar. 11(2):108-10. [QxMD MEDLINE Link].

23. Fishman MA. Encephalocraniocutaneous lipomatosis. J Child Neurol. 1987 Jul. 2(3):186-93. [QxMD MEDLINE Link].

24. Thakur S, Thakur V, Sood RG, Thakur CS, Khanna S. Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. Indian J Radiol Imaging. 2013 Oct. 23(4):333-6. [QxMD MEDLINE Link]. [Full Text].

25. Pregowska K, Jurkiewicz E, Miszczak-Knecht M, Turska-Kmiec A, Bieganowska K. Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. Eur J Pediatr. 2013 Aug 14. [QxMD MEDLINE Link].

26. Hunter AG. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?. Am J Med Genet A. 2006 Apr 1. 140(7):709-26. [QxMD MEDLINE Link].

27. Habib F, Elsaid MF, Salem KY, Ibrahim KO, Mohamed K. Oculo-ectodermal syndrome: A case report and further delineation of the syndrome. Qatar Med J. 2014. 2014 (2):114-22. [QxMD MEDLINE Link].

28. Ajtai B, Bertelson JA. Imaging of Intracranial Cysts. Continuum (Minneap Minn). 2016 Oct. 22 (5, Neuroimaging):1553-1573. [QxMD MEDLINE Link].

29. Özdoğan S, Saymaz C, Yaltırık CK, et al. Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. Am J Case Rep. 2017 Dec 1. 18:1271-1275. [QxMD MEDLINE Link]. [Full Text].

30. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15. 143A(24):2963-72. [QxMD MEDLINE Link].

31. Bieser S, Reis M, Guzman M, Gauvain K, Elbabaa S, Braddock SR, et al. Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. Am J Med Genet A. 2015 Apr. 167A (4):878-81. [QxMD MEDLINE Link].

32. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, et al. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?. Am J Med Genet A. 2007 Dec 15. 143A(24):2973-80. [QxMD MEDLINE Link].

33. Ferranti S, Sardi I, Guidi M, Lembo C, Grosso S. Case Report: A Case of Glioblastoma in a Patient With Haberland Syndrome. Front Pediatr. 2021. 9:648717. [QxMD MEDLINE Link]. [Full Text].

34. Gawel J, Schwartz RA, Jozwiak S. Encephalocraniocutaneous lipomatosis. J Cutan Med Surg. 2003 Jan-Feb. 7(1):61-5. [QxMD MEDLINE Link].

35. Jozwiak S, Gawel J, Kasprzyk-Obara J, et al. Encephalocraniocutaneous lipomatosis - case report. Pediatr Pol. 2001. 76:53-6.

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Medical University of Warsaw, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Monika Slowinska The Medical University of Warsaw, Poland

Disclosure: Nothing to disclose.

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

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.

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

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