- Email: [email protected]
Mandibular osteoma in the encephalocraniocutaneous lipomatosis
ARTICLE IN PRESS Journal of Cranio-Maxillofacial Surgery (2005) 33, 286–289 r 2005 European Association for Cranio-Maxillofacial Surgery doi:10.1016/j.jcms.2005.02.006, available online at http://www.sciencedirect.com
Mandibular osteoma in the encephalocraniocutaneous lipomatosis Bogna ZIELIN´SKA-KAZ´MIERSKA, Joanna GRODECKA, Lidia JABŁON´SKA-POLAKOWSKA, Piotr ARKUSZEWSKI Department of Cranio-Maxillofacial Surgery (Chairman: Piotr ARKUSZEWSKI MDS, PhD, DDS), Barlicki University Hospital, Medical University, Lodz, Poland
SUMMARY. Introduction: Encephalocraniocutaneous lipomatosis is a rare congenital disorder characterized by an abnormal development of adipose tissue, and is of unknown pathogenesis. Catherine Haberland and Maurice Perou first diagnosed this disorder in 1970. To our knowledge, approximately 25 patients have been reported with this diagnosis but so far, only 1 patient has been reported in Poland by Roszkowski and Dabrowski in 1997. At that time she was a 13-year-old girl, who was neurosurgically treated. Case report: The authors followed the same patient (now 21 years old), who was referred to the Department of Cranio-Maxillofacial Surgery of the Medical University of Lodz for osteoma of the mandible. Partial resection of the mandible was performed on account of the size of the lesion. The mandible was reconstructed by an iliac crest bone graft fixed by 2 titanium plates. The surgical procedure is described. Conclusion: Encephalocraniocutaneous lipomatosis is a very rare syndrome. Most of the cases described in the literature presented lipomas of the skin with neurological and ophthalmological disturbances. Only a few authors described jaw tumours and no information was found on such big osteomas to this syndrome. r 2005 European Association for Cranio-Maxillofacial Surgery
Keywords: encephalocraniocutaneous lipomatosis; Haberland syndrome; osteoma; jaw tumours
(Savage et al., 1985; McCall et al., 1992; Mac Laren et al., 1995). The most frequent manifestations are found in the head and neck region. It is important for a surgeon to be aware of the clinical features of this syndrome when a patient presents with multiple head and neck lipomas (Sant‘ Anna et al., 1999).
INTRODUCTION Encephalocraniocutaneous lipomatosis (Haberland syndrome) is a rare congenital disorder characterized by an abnormal development of adipose tissue and is of unknown pathogenesis (Roszkowski and Da˛browski, 1997; Sant‘ Anna et al., 1999; Ahmed et al., 2002; Gawel et al., 2003). Catherine Haberland and Maurice Perou first described this disorder in 1970 with clinical and necropsy findings of a 5 1/2 year old boy suffering from epilepsy and mental retardation. To our knowledge, approximately 25 patients have been reported in the scientific literature (Gawel et al., 2003) with some papers reporting identical cases (e.g. El-Shanti et al., 1992 and McCall et al., 1992). The characteristic features of this disorder are unilateral lipomas of the skin (particularly of the face), and skull, and other ophthalmologic and neurological disturbances (Legius et al., 1995; Roszkowski and Da˛browski, 1997; Ahmed et al., 2002; Brown et al., 2003). A permanent symptom, usually accompanied with skin tumours, is alopecia (Fitoz et al., 2002). Alopecia as well as lipoma can be unilateral or bilateral (Sant‘ Anna et al., 1999). Unilateral cerebral cystic change with atrophy, asymmetry of the skull, mental retardation, and seizures have been observed in nearly all of these patients (McCall et al., 1992; Amor et al., 2000; Deda et al., 2001; Gawel et al., 2003). Some patients also have unilateral jaw tumours, such as odontomas, osteomas, or ossifying fibromas
CASE REPORT A 21-year-old woman was referred for evaluation of increasing pain in the left side of the mandible, which had been present for several weeks (Fig. 1). Her medical history revealed ‘Haberland’ syndrome, which had been recognized since the age of 13. Because of her resistance to pharmacotherapy for grand mal epilepsy causing attacks everyday, the girl was then received by the neurosurgeons. Neurological examination revealed mental retardation and cranial asymmetry. Cranial CT demonstrated a large lesion in the left cerebellopontine angle and temporal lobe (Fig. 2) with a signal similar to fat-density. The patient was treated by craniotomy and the tumour was removed together with the temporal lobe. Recent clinical examination uncovered many malformations in the cranial region: cranial and orbital asymmetry including the eyelids, soft skin tumours in the left temporal and frontal region, scars from operations and alopecia in the left occipitoparietal region. Ophthalmological examination revealed a 286
ARTICLE IN PRESS Mandibular osteoma 287
A preoperative CT examination of the mandible and neck revealed a unilocular radiopaque lesion of 7 2.5 cm which widened the ramus and body of the mandible without destroying the cortices or penetrating the soft tissue (Fig. 5). Enlarged cervical lymphnodes were not noticed. Partial resection of the mandible was performed and the jaw was reconstructed by an iliac crest bone
Fig. 3 – Intraoral aspect showing alveolar expansion. Fig. 1 – Twenty-one-year old female patient, preoperatively (second presentation): Many malformations in the head, especially in the left orbital region.
Fig. 4 – Panoramic radiograph: mandible, retained teeth, and bony lesion on left side. (Differential diagnosis osteoma vs. odontoma.)
Fig. 2 – Preoperative cranial CT: large fat-density lesion in the left cerebellopontine angle and temporal lobe.
coloboma of the iris with scleral limb lipoma, and blindness of the left eye. In addition a major expansion of the left side of the mandible was observed and absence of the first and second left molars were noted. There were many fistulae around the left alveolar part of the mandible (Figs. 3 and 4). The radiological diagnosis of osteoma was confirmed by biopsy.
Fig. 5 – Preoperative CT (horizontal section of mandible).
ARTICLE IN PRESS 288 Journal of Cranio-Maxillofacial Surgery
graft fixed by 2 titanium plates (Fig. 6). Postoperative healing was complicated by a fistula in the region of the transplanted bone graft. After closing the fistula, the patient was discharged and offered frequent follow-up. Two months later, new mucosal fistulae around the transplanted bone were observed, as well as a skin fistula in the left submandibular region (Fig. 7). The fistulae were surgically removed but recurred during the healing period. This time the patient was treated by lasertherapy with good results. Six months later, an ortho-pantomogram revealed good integration of the illiac graft (Fig. 8). Fig. 8 – Panoramic radiography 6 months postoperatively: integration of the transplanted bone.
Six months after discharge from the hospital, the patient started having headaches, nausea and epileptic fits. A CT scan revealed a large arachnoid cyst located in the left occipitotemporal region. The ventricles were enlarged and the brain was generally firm when a ventriculo-peritoneal shunt was inserted. Her clinical condition promptly improved, and she was soon discharged.
Fig. 6 – Postoperative panoramic radiograph: reconstructed mandible.
Fig. 7 – Intraoral aspect with mucosal fistulae posteriorly.
DISCUSSION The pathogenesis of the encephalocraniocutaneous lipomatosis (ECCL) remains unknown (Haberland and Perou, 1970; Roszkowski and Da˛browski, 1997; Sant‘ Anna et al., 1999). Haberland and Perou speculated as to whether the ectodermal malformations are the manifestations of the same basic developmental disorder which also produces mesodermal malformations, or whether they are secondary to mesodermal dysgenesis. Some authors have suggested that this syndrome is either a result of chromosomal mosaicism, or a somatic mutation, which is lethal in non-mosaic states. ECCL shows considerable overlap with the Proteus Syndrome (Legius et al., 1995). El-Shanti et al. (1992) and Zakrzewski et al. (2001) have shown that ECCL, Proteus syndrome, and the epidermal naevus syndrome represent a phenotypic continuum, which in turn suggests a common pathogenesis. Legius et al. (1995), reported that, at least in some patients, the ECCL phenotype might result from a mutation in the neurofibromatosis type 1 (NF1) gene, alone or in combination with another genetic or nongenetic event, whereas in other subjects with ECCL the aetiology might be different. Ahmed et al. (2002), demonstrated both neurocutaneous melanosis and ECCL in one patient. Multiple, large and small congenital melanocytic naevi were observed on the head, neck, and trunk and covered 70% of the body surface. This provides strong support for the hypothesis that anomalous neural crest morphogenesis and migration cause the development of these disorders.
ARTICLE IN PRESS Mandibular osteoma 289
Presently, there is still no knowledge regarding prognosis for ECCL (Sant‘ Anna et al., 1999; Brown et al., 2003). Clinically, the disease seems to correlate with the evolution of neurologic damage, either directly or indirectly due to complications from drug and surgical therapies. Cutaneous and ocular lesions do not seem to enlarge (Sant‘ Anna et al., 1999). The patients require long follow-up observation because of the possibility of recurrence and the necessity for further surgical procedures (Gawel et al., 2003). A recurrence of neurological lesions with seizures took place in the patient described here, and neurosurgical intervention was required. Osteomas are benign neoplasms, with no infiltration or metastatic potential. In this case, the need for mandibular resection was not the character of the lesion itself, but its extent. Because of the poor wound healing, it was decided not to utilise dental implants.
CONCLUSION Encephalocraniocutaneous lipomatosis is a very rare syndrome. Most of the cases described in the literature presented lipomas of the skin, neurological and ophthalmological disturbances. Only a few authors described jaw tumours but none were of the extraordinary size found in this case.
El-Shanti H, Ramzy MI, Cure JK, Pai GS: Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet 43: 662–668, 1992 Fitoz S, Atosoy C¸, Erden I, Akyar S: Intracranial lipoma with extracranial extension through foramen ovale in a patient with encephalocraniocutaneous lipomatosis syndrome. Neuroradiology 44: 175–178, 2002 Gawel J, Schwartz RA, Jo´z´wiak S: Encephalocraniocutaneous lipomatosis. J Cutan Med Surg 7: 61–65, 2003 Haberland C, Perou M: Encephalocraniocutaneous lipomatosis. Arch Neurol 22: 144–156, 1970 Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ: Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 32: 316–319, 1995 MacLaren MJ, Kluijt I, Koole FD: Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90: 87–98, 1995 McCall S, Ramzy MI, Cure JK, Pai GS: Encephalocraniocutaneous lipomatosis and Proteus syndrome: distinct entities with overlapping manifestation. Am J Med Genet 43: 662–668, 1992 Roszkowski M, Da˛ browski D: T"uszczakowatos´ c´ mo´zgowoczaszkowo-sko´rna (encephalocraniocutaneous lipomatosis— ECCL) – Zespo´" Haberlanda. Opis przypadku i przegla˛ d pis´ miennictwa. Neurochir Pol 31: 607–613, 1997 Sant’ Anna GD, Saffer M, Mauri M, Facco S, Raupp S: Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome. Int J Pediatr Otorhinolaryngol 49: 231–235, 1999 Savage MG, Heldt L, Dann JJ, Bump RL: Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors. J Oral Maxillofac Surg 43: 617–620, 1985 Zakrzewski JL, Luecke T, Bentele KHP, Hoeger PH: Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes. Eur J Pediatr 160: 603–606, 2001
References Ahmed I, Tope WD, Young TL, Miller DM, Bloom KE: Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol 47: 196–200, 2002 Amor DJ, Kornberg AJ, Smith LJ: Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Paediatr Child Health 36: 603–605, 2000 Brown KE, Goldstein SM, Douglas RS, Katowitz JA: Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome. J Am Assoc Plast Ophth Surg 7: 148–149, 2003 Deda G, Caksen H, Yavuzer G, Arasil T: Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. Brain Dev 25: 355–358, 2001
Dr. Bogna ZIELIN´SKA-KAZ´MIERSKA, Department of Cranio-Maxillofacial Surgery, Medical University in Lodz, Barlicki University Hospital, 22 Kopcin´skiego Street, Ło´dz´, Poland. Tel./fax: +48 426 776 788. Paper received 19 November 2004 Accepted 24 February 2005
Mandibular osteoma in the encephalocraniocutaneous lipomatosis Bogna ZIELIN´SKA-KAZ´MIERSKA, Joanna GRODECKA, Lidia JABŁON´SKA-POLAKOWSKA, Piotr ARKUSZEWSKI Department of Cranio-Maxillofacial Surgery (Chairman: Piotr ARKUSZEWSKI MDS, PhD, DDS), Barlicki University Hospital, Medical University, Lodz, Poland
SUMMARY. Introduction: Encephalocraniocutaneous lipomatosis is a rare congenital disorder characterized by an abnormal development of adipose tissue, and is of unknown pathogenesis. Catherine Haberland and Maurice Perou first diagnosed this disorder in 1970. To our knowledge, approximately 25 patients have been reported with this diagnosis but so far, only 1 patient has been reported in Poland by Roszkowski and Dabrowski in 1997. At that time she was a 13-year-old girl, who was neurosurgically treated. Case report: The authors followed the same patient (now 21 years old), who was referred to the Department of Cranio-Maxillofacial Surgery of the Medical University of Lodz for osteoma of the mandible. Partial resection of the mandible was performed on account of the size of the lesion. The mandible was reconstructed by an iliac crest bone graft fixed by 2 titanium plates. The surgical procedure is described. Conclusion: Encephalocraniocutaneous lipomatosis is a very rare syndrome. Most of the cases described in the literature presented lipomas of the skin with neurological and ophthalmological disturbances. Only a few authors described jaw tumours and no information was found on such big osteomas to this syndrome. r 2005 European Association for Cranio-Maxillofacial Surgery
Keywords: encephalocraniocutaneous lipomatosis; Haberland syndrome; osteoma; jaw tumours
(Savage et al., 1985; McCall et al., 1992; Mac Laren et al., 1995). The most frequent manifestations are found in the head and neck region. It is important for a surgeon to be aware of the clinical features of this syndrome when a patient presents with multiple head and neck lipomas (Sant‘ Anna et al., 1999).
INTRODUCTION Encephalocraniocutaneous lipomatosis (Haberland syndrome) is a rare congenital disorder characterized by an abnormal development of adipose tissue and is of unknown pathogenesis (Roszkowski and Da˛browski, 1997; Sant‘ Anna et al., 1999; Ahmed et al., 2002; Gawel et al., 2003). Catherine Haberland and Maurice Perou first described this disorder in 1970 with clinical and necropsy findings of a 5 1/2 year old boy suffering from epilepsy and mental retardation. To our knowledge, approximately 25 patients have been reported in the scientific literature (Gawel et al., 2003) with some papers reporting identical cases (e.g. El-Shanti et al., 1992 and McCall et al., 1992). The characteristic features of this disorder are unilateral lipomas of the skin (particularly of the face), and skull, and other ophthalmologic and neurological disturbances (Legius et al., 1995; Roszkowski and Da˛browski, 1997; Ahmed et al., 2002; Brown et al., 2003). A permanent symptom, usually accompanied with skin tumours, is alopecia (Fitoz et al., 2002). Alopecia as well as lipoma can be unilateral or bilateral (Sant‘ Anna et al., 1999). Unilateral cerebral cystic change with atrophy, asymmetry of the skull, mental retardation, and seizures have been observed in nearly all of these patients (McCall et al., 1992; Amor et al., 2000; Deda et al., 2001; Gawel et al., 2003). Some patients also have unilateral jaw tumours, such as odontomas, osteomas, or ossifying fibromas
CASE REPORT A 21-year-old woman was referred for evaluation of increasing pain in the left side of the mandible, which had been present for several weeks (Fig. 1). Her medical history revealed ‘Haberland’ syndrome, which had been recognized since the age of 13. Because of her resistance to pharmacotherapy for grand mal epilepsy causing attacks everyday, the girl was then received by the neurosurgeons. Neurological examination revealed mental retardation and cranial asymmetry. Cranial CT demonstrated a large lesion in the left cerebellopontine angle and temporal lobe (Fig. 2) with a signal similar to fat-density. The patient was treated by craniotomy and the tumour was removed together with the temporal lobe. Recent clinical examination uncovered many malformations in the cranial region: cranial and orbital asymmetry including the eyelids, soft skin tumours in the left temporal and frontal region, scars from operations and alopecia in the left occipitoparietal region. Ophthalmological examination revealed a 286
ARTICLE IN PRESS Mandibular osteoma 287
A preoperative CT examination of the mandible and neck revealed a unilocular radiopaque lesion of 7 2.5 cm which widened the ramus and body of the mandible without destroying the cortices or penetrating the soft tissue (Fig. 5). Enlarged cervical lymphnodes were not noticed. Partial resection of the mandible was performed and the jaw was reconstructed by an iliac crest bone
Fig. 3 – Intraoral aspect showing alveolar expansion. Fig. 1 – Twenty-one-year old female patient, preoperatively (second presentation): Many malformations in the head, especially in the left orbital region.
Fig. 4 – Panoramic radiograph: mandible, retained teeth, and bony lesion on left side. (Differential diagnosis osteoma vs. odontoma.)
Fig. 2 – Preoperative cranial CT: large fat-density lesion in the left cerebellopontine angle and temporal lobe.
coloboma of the iris with scleral limb lipoma, and blindness of the left eye. In addition a major expansion of the left side of the mandible was observed and absence of the first and second left molars were noted. There were many fistulae around the left alveolar part of the mandible (Figs. 3 and 4). The radiological diagnosis of osteoma was confirmed by biopsy.
Fig. 5 – Preoperative CT (horizontal section of mandible).
ARTICLE IN PRESS 288 Journal of Cranio-Maxillofacial Surgery
graft fixed by 2 titanium plates (Fig. 6). Postoperative healing was complicated by a fistula in the region of the transplanted bone graft. After closing the fistula, the patient was discharged and offered frequent follow-up. Two months later, new mucosal fistulae around the transplanted bone were observed, as well as a skin fistula in the left submandibular region (Fig. 7). The fistulae were surgically removed but recurred during the healing period. This time the patient was treated by lasertherapy with good results. Six months later, an ortho-pantomogram revealed good integration of the illiac graft (Fig. 8). Fig. 8 – Panoramic radiography 6 months postoperatively: integration of the transplanted bone.
Six months after discharge from the hospital, the patient started having headaches, nausea and epileptic fits. A CT scan revealed a large arachnoid cyst located in the left occipitotemporal region. The ventricles were enlarged and the brain was generally firm when a ventriculo-peritoneal shunt was inserted. Her clinical condition promptly improved, and she was soon discharged.
Fig. 6 – Postoperative panoramic radiograph: reconstructed mandible.
Fig. 7 – Intraoral aspect with mucosal fistulae posteriorly.
DISCUSSION The pathogenesis of the encephalocraniocutaneous lipomatosis (ECCL) remains unknown (Haberland and Perou, 1970; Roszkowski and Da˛browski, 1997; Sant‘ Anna et al., 1999). Haberland and Perou speculated as to whether the ectodermal malformations are the manifestations of the same basic developmental disorder which also produces mesodermal malformations, or whether they are secondary to mesodermal dysgenesis. Some authors have suggested that this syndrome is either a result of chromosomal mosaicism, or a somatic mutation, which is lethal in non-mosaic states. ECCL shows considerable overlap with the Proteus Syndrome (Legius et al., 1995). El-Shanti et al. (1992) and Zakrzewski et al. (2001) have shown that ECCL, Proteus syndrome, and the epidermal naevus syndrome represent a phenotypic continuum, which in turn suggests a common pathogenesis. Legius et al. (1995), reported that, at least in some patients, the ECCL phenotype might result from a mutation in the neurofibromatosis type 1 (NF1) gene, alone or in combination with another genetic or nongenetic event, whereas in other subjects with ECCL the aetiology might be different. Ahmed et al. (2002), demonstrated both neurocutaneous melanosis and ECCL in one patient. Multiple, large and small congenital melanocytic naevi were observed on the head, neck, and trunk and covered 70% of the body surface. This provides strong support for the hypothesis that anomalous neural crest morphogenesis and migration cause the development of these disorders.
ARTICLE IN PRESS Mandibular osteoma 289
Presently, there is still no knowledge regarding prognosis for ECCL (Sant‘ Anna et al., 1999; Brown et al., 2003). Clinically, the disease seems to correlate with the evolution of neurologic damage, either directly or indirectly due to complications from drug and surgical therapies. Cutaneous and ocular lesions do not seem to enlarge (Sant‘ Anna et al., 1999). The patients require long follow-up observation because of the possibility of recurrence and the necessity for further surgical procedures (Gawel et al., 2003). A recurrence of neurological lesions with seizures took place in the patient described here, and neurosurgical intervention was required. Osteomas are benign neoplasms, with no infiltration or metastatic potential. In this case, the need for mandibular resection was not the character of the lesion itself, but its extent. Because of the poor wound healing, it was decided not to utilise dental implants.
CONCLUSION Encephalocraniocutaneous lipomatosis is a very rare syndrome. Most of the cases described in the literature presented lipomas of the skin, neurological and ophthalmological disturbances. Only a few authors described jaw tumours but none were of the extraordinary size found in this case.
El-Shanti H, Ramzy MI, Cure JK, Pai GS: Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet 43: 662–668, 1992 Fitoz S, Atosoy C¸, Erden I, Akyar S: Intracranial lipoma with extracranial extension through foramen ovale in a patient with encephalocraniocutaneous lipomatosis syndrome. Neuroradiology 44: 175–178, 2002 Gawel J, Schwartz RA, Jo´z´wiak S: Encephalocraniocutaneous lipomatosis. J Cutan Med Surg 7: 61–65, 2003 Haberland C, Perou M: Encephalocraniocutaneous lipomatosis. Arch Neurol 22: 144–156, 1970 Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ: Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 32: 316–319, 1995 MacLaren MJ, Kluijt I, Koole FD: Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90: 87–98, 1995 McCall S, Ramzy MI, Cure JK, Pai GS: Encephalocraniocutaneous lipomatosis and Proteus syndrome: distinct entities with overlapping manifestation. Am J Med Genet 43: 662–668, 1992 Roszkowski M, Da˛ browski D: T"uszczakowatos´ c´ mo´zgowoczaszkowo-sko´rna (encephalocraniocutaneous lipomatosis— ECCL) – Zespo´" Haberlanda. Opis przypadku i przegla˛ d pis´ miennictwa. Neurochir Pol 31: 607–613, 1997 Sant’ Anna GD, Saffer M, Mauri M, Facco S, Raupp S: Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome. Int J Pediatr Otorhinolaryngol 49: 231–235, 1999 Savage MG, Heldt L, Dann JJ, Bump RL: Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors. J Oral Maxillofac Surg 43: 617–620, 1985 Zakrzewski JL, Luecke T, Bentele KHP, Hoeger PH: Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes. Eur J Pediatr 160: 603–606, 2001
References Ahmed I, Tope WD, Young TL, Miller DM, Bloom KE: Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol 47: 196–200, 2002 Amor DJ, Kornberg AJ, Smith LJ: Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Paediatr Child Health 36: 603–605, 2000 Brown KE, Goldstein SM, Douglas RS, Katowitz JA: Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome. J Am Assoc Plast Ophth Surg 7: 148–149, 2003 Deda G, Caksen H, Yavuzer G, Arasil T: Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. Brain Dev 25: 355–358, 2001
Dr. Bogna ZIELIN´SKA-KAZ´MIERSKA, Department of Cranio-Maxillofacial Surgery, Medical University in Lodz, Barlicki University Hospital, 22 Kopcin´skiego Street, Ło´dz´, Poland. Tel./fax: +48 426 776 788. Paper received 19 November 2004 Accepted 24 February 2005