Encephalocraniocutaneous Lipomatosis: Clinical Spectrum of Systemic Involvement

Share Embed


Descrição do Produto

Pediatric Dermatology Vol. 23 No. 1 27– 30, 2006

Encephalocraniocutaneous Lipomatosis: Clinical Spectrum of Systemic Involvement

Blackwell Publishing Inc

Alexandre Sofiatti, M.D.,* Ana Gabriela Cirto, M.D.,* Marcelo Arnone, M.D.,* Ricardo Romiti, M.D.,* Claudia Santi, M.D.,* Claudia Leite, M.D.,† and Mirian Sotto, M.D.‡ *Departments of Dermatology, †Radiology, and ‡Dermatopathology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil

Abstract: Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome with involvement of ectomesodermal tissues. Unilateral lipomatous hamartomas of the scalp and eyes are the hallmarks of this disorder. Associated findings are extremely variable, ranging from minor abnormalities to severe, debilitating disease. We report two unrelated Brazilian patients with encephalocraniocutaneous lipomatosis, one presenting with the full-blown spectrum of cutaneous, ocular, and central nervous system manifestations, and the other with minor extracutaneous manifestations after a 5-year follow-up period.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, neurocutaneous syndrome of unknown etiology described in 1970 by Haberland and Perou (1) as a new presentation of ectomesodermal dysgenesis. The disorder consists of unilateral cerebral malformations and characteristic ipsilateral scalp, face, and eye lesions. Although clinical findings are variable, the characteristic location, histopathologic pattern, and specific neurologic and ophthalmologic abnormalities make ECCL a distinct entity. Primary features include unilateral porencephalic cysts with cortical atrophy, ipsilateral lipomatous hamartomas of the scalp and eyelids, cranial asymmetry, marked developmental delay and mental retardation, seizures, and spasms of contralateral limbs (2). We report two Brazilian patients affected by this syndrome and review the literature.

CASE REPORTS Patient 1 A 1-year-old Brazilian girl had congenital scalp and facial lesions and evident cranial asymmetry. She was the first child of a nonconsanguineous marriage and was the product of a full-term Cesarean section delivery. At birth, she was noted to have macrocephaly, with a head circumference measuring 35.5 cm (75th percentile). Physical examination found a large patch of alopecia on the right frontal-parietal scalp, measuring 14 × 6 cm, associated with multiple skin-colored papules on the right upper eyelid and eyebrow (Figs. 1 and 2). In the right eye, a red, soft plaque was present on the bulbar conjunctiva, obscuring the normal outline of the iris, representing a pterygium-like lesion.

Address correspondence to Alexandre de Abreu Sofiatti, M.D., Department of Dermatology, Hospital das Clinicas da Universidade de São Paulo, Rua Dr. Enéias Carvalho de Aguiar, 255, 3 ° andar, Instituto Central, sala 3069/3070. CEP 05403-900, Brazil.

© 2006 The Authors. Journal compilation © 2006 Blackwell Publishing, Inc.

27

28 Pediatric Dermatology Vol. 23 No. 1 January/February 2006

Figure 1. A large patch of alopecia on the scalp, associated with multiple skin-colored papules on the right upper eyelid and eyebrow in patient 1.

Figure 3. Abundant fatty tissue and fibrous areas extending into the reticular dermis in patient 1 (Masson tricrome stain; magnification 40×).

increased volume of the right hemicranium and thickened adipose subcutaneous tissue corresponding to the site of the observed scalp lesion. Additional findings on MRI included an extraaxial temporal septated cystic lesion whose signal was similar to cerebrospinal fluid: enlargement of the lateral ventricle on the right side with volume reduction of the corresponding cerebral hemisphere, a thin corpus callosum, and deformity of the right orbit (Fig. 4). Echocardiography and abdominal ultrasound findings were normal. Despite the MRI abnormalities, her neuropsychomotor development was normal. Figure 2. Tiny skin-colored papules on the right eye in patient 1.

Patient 2 Histology of the scalp lesion showed rectification of the epidermis and atrophic hair follicles surrounded by mild fibrous areas. Increased amounts of subcutaneous fat were observed extending into the mid-dermis (Fig. 3). Ophthalmologic evaluation revealed pupil deviation to the temporal region, likely as a result of synechia extending laterally from the iris. Given the presence of sequential episodes of seizures during the first few days of life, phenobarbital was introduced, without further recurrences. The electroencephalogram with intermittent photo-stimulation revealed asymmetric cerebral electric activity, slower in the right temporal-occipital region. Computed tomography of the head showed right exophthalmos, cranial asymmetry, and asymmetry of the cerebral hemispheres. An extensive area of hypoattenuation in the right hemisphere was seen, suggesting a dilated ventricular system. At 1 year of age, magnetic resonance imaging (MRI) showed cranial asymmetry with

A 9-year-old girl with congenital cranial anomalies presented with a large yellowish, hairless plaque located on the left parietal scalp and multiple soft papules distributed on the left eyebrow and upper eyelid, all present since birth (Fig. 5). The girl was the second child of a nonconsanguineous marriage and was the product of a full-term Cesarean section delivery. On physical examination, the girl had a large, smooth hairless area extending from the left eyebrow, along the left parietal rim, up to the occipital region. Skin-colored papules were distributed on the left upper eyelid. A biopsy specimen of the scalp showed diffuse thickening of the subcutaneous fat, associated with dermal fibrosis and a virtual absence of hair follicles. Neurologic examination found a hyperactive child with a short attention span, but mental development was adequate for her age group. The MRI of the brain showed a small, round, low-density image on the left side of the quadrigeminal lamina, suggestive of a lipoma (Fig. 6).

Sofiatti et al: Encephalocraniocutaneous Lipomatosis 29

Figure 5. Smooth alopecic area affecting the left side of the scalp in patient 2.

Figure 4. Axial MRI of the brain demonstrates a dilated ventricle and intracranial cystic and ipsilateral cerebral atrophy in patient 1.

Ophthalmologic and endocrinologic evaluation revealed no alterations. After a 5-year follow-up period, no further clinical manifestations were noted and the child had normal neuropsychomotor development (3). DISCUSSION Encephalocraniocutaneous lipomatosis was described for the first time in 1970, as a new example of ectomesodermal dysgenesis (1). Since then, 39 patients have been reported (4–6). The disorder has no particular gender, racial, or geographic predisposition. Neither genetic transmission nor chromosomal abnormalities has been demonstrated (7). Dysgenesis of the cephalic neural crest and the anterior neural tube is the most widely accepted explanation of this syndrome’s pathogenesis (2). The molecular basis of ECCL remains unknown, but it is thought to result

Figure 6. Magnetic resonance imaging reveals an oval image suggestive of a lipoma in patient 2.

from a postzygotic gene mutation, resulting in mosaicism for a mutation that would be lethal in the nonmosaic form. Happle (8,9) proposed this hypothesis to explain several other sporadic syndromes characterized

30 Pediatric Dermatology Vol. 23 No. 1 January/February 2006

by a mosaic distribution of skin defects and highly variable presentation, and it is now thought to explain the pathophysiology of ECCL. The postzygotic gene mutation theory is consistent with the observation that all reported instances of ECCL are isolated cases, further suggesting a negligible recurrence risk. The nature of the presumed mosaic gene mutation that results in ECCL is unknown, but the effect is likely to be an alteration in the growth and differentiation of mesodermal tissue. A de novo mutation of the NF1 gene responsible for neurofibromatosis type 1 has been reported in one patient, but this finding has not been reported by other authors and warrants further observations (7,10). The characteristic cutaneous finding, nevus psiloliparus (hairless fat nevus), is the most conspicuous sign of ECCL (2,8,11). This lesion is typically an irregularly shaped but sharply demarcated hairless patch of the scalp with a smooth surface, often covered by telangiectasia. The main differential diagnoses of ECCL include neuroectodermal cutaneous syndromes such as Proteus syndrome, Goldenhar syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. Some speculate that ECCL might represent a circumscribed form of the Proteus syndrome (2,11–13). However, Proteus syndrome is an overgrowth syndrome defined by its progressive nature from childhood to puberty, whereas the lesions in ECCL are usually static. Epibulbar lipodermoids are seen more commonly in Goldenhar syndrome, but in this condition, they are associated with a different spectrum of abnormalities including preauricular appendages, hemifacial microsomia, and vertebral abnormalities. The triad of ocular, cerebral, and cutaneous manifestations is also observed in the oculocerebrocutaneous syndrome, another rare neurocutaneous syndrome, but the nature of the lesions (orbital cysts, focal dermal hypoplasia, and agenesis of the corpus callosum) is different from that seen in ECCL (8). Unilateral scalp lipomas with overlying alopecia are seen primarily in ECCL (6), which is associated with psychomotor retardation in the majority of patients, but normal development may be present in a small minority. We report two unrelated instances of ECCL that illustrate the variability of this disease. The first patient presented with severe and extensive neurologic malformations and early-onset seizures associated with characteristic ocular and cutaneous findings. The second patient, although showing a disfiguring scalp hamartoma associated with ocular abnormalities, presented with normal psychomotor development and no other systemic manifestations

even after a 5-year follow-up period. Both of our patients had a congenital smooth hairless lesion on the scalp. When confronted with such lesions, dermatologists must consider the diagnosis of nevus psiloliparus and be aware of its association with ECCL (14). ACKNOWLEDGMENTS The authors wish to thank Fabio Paganini, M.D., and Kristen Holland, M.D., for their technical assistance. REFERENCES 1. Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. Arch Neurol 1970;22:144–155. 2. Gawel J, Schwartz RA, Jóswiak S. Encephalocraniocutaneous lipomatosis. J Cutan Med Surg 2003;7:61–65. 3. Romiti R, Rengifo JA, Arnone M et al. Encephalocraniocutaneous lipomatosis: a new case report and review of the literature. J Dermatol 1999;26:808–812. 4. Lasierra R, Valencia I, Carapeto FJ et al. Encephalocraniocutaneous lipomatosis: neurologic manifestations. J Child Neurol 2003;18:725–729. 5. Almer Z, Vishnevskia-Daí V, Zadoc D. Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea 2003;22:389–390. 6. Brown KE, Goldstein SM, Douglas RS et al. Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome. J AAPOS 2003;7:148–149. 7. Rubegni P, Risulo M, Sbano P et al. Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 2003;28:387–390. 8. Amor DJ, Kornberg AJ, Smith LJ. Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Pediatr Child H 2000;36:603– 605. 9. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic births defects involving the skin. J Am Acad Dermatol 1987;16:899–906. 10. Legius E, Wu R, Eyssen M et al. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 1995;32:316–319. 11. Happle R, Küster W. Nevus psiloliparus: a distinct fatty tissue nevus. Dermatology 1998;197:6–10. 12. McCall S, Ramzy MI, Cure JK. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet 1992;43:662–668. 13. Wiedemann HR, Burgio GR. Encephalocraniocutaneous lipomatosis and the Proteus syndrome. Am J Med Genet 1986;5:403–404. 14. Hauber K, Warmuth-Metz M, Rose C et al. Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature. Eur J Pedriatr 2003;162:589–593.

Lihat lebih banyak...

Comentários

Copyright © 2017 DADOSPDF Inc.