Haberland syndrome

Dermatologica Sinica

Volumn 23, Issue 1, 2005, Pages 41-45

  Chan, Chih Chieh ^a   Chen, Jau Shiuh ^a   Chu, Chia Yu ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Encephalocraniocutaneous lipomatosis (ECCL); Haberland syndrome; Lipomatosis

Indexed keywords

ADULT; CASE REPORT; CLINICAL FEATURE; ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; HABERLAND SYNDROME; HUMAN; HUMAN TISSUE; LIPOMATOSIS; MALE; RARE DISEASE; REVIEW; TAIWAN;

EID: 15244343842     PISSN: 10278117     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (34)

1. Haberland C, Perou M: Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22: 144-155, 1970.
2. Gawel J, Schwartz RA, Jozwiak S: Encephalocraniocutaneous lipomatosis. J Cutan Med Surg 7: 61-65, 2003.
3. Almer Z, Vishnevskia-Dai V, Zadok D: Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea 22: 389-390, 2003.
4. Hauber K, Warmuth-Metz M, Rose C, et al.: Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature. Eur J Pediatr 162: 589-593, 2003.
5. Happle R, Kuster W: Nevus psiloliparus: a distinct fatty tissue nevus. Dermatology 197: 6-10, 1998.
6. Happle R, Steijlen PM: Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype. Hautarzt 44: 19-22, 1993.
7. Rizzo R, Pavone L, Micali G, et al.: Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 47: 653-655, 1993.
8. Hamm H: Cutaneous mosaicism of lethal mutations. Am J Med Genet 85: 342-345, 1999.
9. Cultrera F, Guarnera F, Giardina MC: Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis. Minerva Pediatr 56: 219-222, 2004.
10. Fishman MA: Encephalocraniocutaneous lipomatosis. J Child Neurol 2: 186-193, 1987.
11. Rubegni P, Risulo M, Sbano P, et al.: Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 28: 387-390, 2003.
12. Alfonso I, Lopez PF, Cullen RF et al.: Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatr Neurol 2: 380-384, 1986.
13. Al-Mefty O, Fox JL, Sakati N et al.: The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. Child Nerv Syst 3: 132-134, 1987.
14. Amor DJ, Kornberg AJ, Smith J: Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Pediatr Child Health 36: 603-605, 2000.
15. Bamforth JSG, Riccardi VM, Thisen P, et al.: Encephalocraniocutaneous lipomatosis. Report of two cases and review of the literature. Neurofibromatosis 2: 166-173, 1989.
16. Ciatti S, Del Monaco M, Hyde P, et al.: Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. J Am Acad Dermatol 38: 102-104, 1998.
17. Cruz AAV, Schirmbeck T, Pina-Neto JM, et al.: Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis. Ophthal Plast Reconstr Surg 18: 151-155, 2002.
18. Deda G, Caksen H, Yavuzer G, et al.: Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. Brain Dev 23: 355-358, 2001.
19. Fishman MA, Chang CSC, Miller JE: Encephalocraniocutaneous lipomatosis. Pediatrics 61: 580-582, 1978.
20. Grimalt R, Ermacora E, Mistura L, et al.: Encephalocraniocutaneous lipomatosis: case report and review of the literature. Pediatr Dermatol 10: 164-168, 1993.
21. Hennekam RCM: Scalp lipomas and cerebral malformations: overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Clin Dysmorphol 3: 87-89, 1994.
22. Kodsi SR, Bloom KE, Egbert JE, et al.: Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol 118: 77-82, 1994.
23. Legius E, Wu R, Eyssen M, et al.: Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 23: 316-319, 1995.
24. Loggers HE, Oosterwijk JC, Overweg-Plandsoen WCG, et al: Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. A differential diagnostic problem? Ophthal Paediatr Genet 13: 171-177, 1992.
25. MacLaren MJP, Kluijt I, Koole FD: Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90: 87-98, 1995.
26. McCall S, Ramzy MI, Cure JK, et al.: Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet 43: 662-668, 1992.
27. Miyao M, Saito T, Yamamoto Y, et al.: Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome. Child's Brain 11: 280-284, 1994.
28. Nosti-Martinez D, Del Castillo V, Duran-Mckinster C, et al.: Encephalocraniocutaneous lipomatosis: an uncommon neurocutaneous syndrome. J Am Acad Dermatol 32: 387-389, 1995.
29. Nowaczyk MJM, Mernagh JR, Bourgeouis JM, et al.: Antenatal and postpartal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 91: 261-266, 2000.
30. Parazzini C, Triulzi F, Russo G, et al.: Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases. Am J Neuroradiol 20: 173-176, 1999.
31. Romiti R, Rengifo JA, Arnone M, et al.: Encephalocraniocutaneous lipomatosis: a new case and review of the literature. J Dermatol 26: 808-812, 1999.
32. Sanchez NP, Rhodes AR, Mandell F, et al.: Encephalocraniocutaneous lipomatosis: a new neurocutaneous syndrome. Br J Dermatol 104: 89-96, 1981.
33. Sant Anna GD, Saffer M, Mauri M, et al.: Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome. Int J Pediatr Otorhinolaryngol 20: 231-235, 1999.
34. Savage MG, Heldt L, Dann JJ, et al.: Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors. J Oral Maxillofac Surg 43: 617-620, 1985.