Book contents
- Frontmatter
- Contents
- Contributors
- Foreword
- Preface
- 1 Introduction
- 2 Genetics of neurocutaneous disorders
- 3 Clinical recognition
- 4 Neurofibromatosis type 1
- 5 Neurofibromatosis type 2
- 6 Tuberous sclerosis complex
- 7 von Hippel–Lindau disease
- 8 Neurocutaneous melanosis
- 9 Nevoid basal cell carcinoma (Gorlin) syndrome
- 10 Epidermal nevus syndromes
- 11 Multiple endocrine neoplasia type 2
- 12 Ataxia–telangiectasia
- 13 Incontinentia pigmenti
- 14 Hypomelanosis of Ito
- 15 Cowden disease
- 16 Pseudoxanthoma elasticum
- 17 Ehlers–Danlos syndromes
- 18 Hutchinson–Gilford progeria syndrome
- 19 Blue rubber bleb nevus syndrome
- 20 Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu)
- 21 Hereditary neurocutaneous angiomatosis
- 22 Cutaneous hemangiomas: vascular anomaly complex
- 23 Sturge–Weber syndrome
- 24 Lesch–Nyhan syndrome
- 25 Multiple carboxylase deficiency
- 26 Homocystinuria due to cystathionine β-synthase (CBS) deficiency
- 27 Fucosidosis
- 28 Menkes disease
- 29 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
- 30 Cerebrotendinous xanthomatosis
- 31 Adrenoleukodystrophy
- 32 Peroxisomal disorders
- 33 Familial dysautonomia
- 34 Fabry disease
- 35 Giant axonal neuropathy
- 36 Chediak–Higashi syndrome
- 37 Encephalocraniocutaneous lipomatosis
- 38 Cerebello-trigemino-dermal dysplasia
- 39 Coffin–Siris syndrome: clinical delineation; differential diagnosis and long-term evolution
- 40 Lipoid proteinosis
- 41 Macrodactyly–nerve fibrolipoma
- Index
- References
37 - Encephalocraniocutaneous lipomatosis
Published online by Cambridge University Press: 31 July 2009
- Frontmatter
- Contents
- Contributors
- Foreword
- Preface
- 1 Introduction
- 2 Genetics of neurocutaneous disorders
- 3 Clinical recognition
- 4 Neurofibromatosis type 1
- 5 Neurofibromatosis type 2
- 6 Tuberous sclerosis complex
- 7 von Hippel–Lindau disease
- 8 Neurocutaneous melanosis
- 9 Nevoid basal cell carcinoma (Gorlin) syndrome
- 10 Epidermal nevus syndromes
- 11 Multiple endocrine neoplasia type 2
- 12 Ataxia–telangiectasia
- 13 Incontinentia pigmenti
- 14 Hypomelanosis of Ito
- 15 Cowden disease
- 16 Pseudoxanthoma elasticum
- 17 Ehlers–Danlos syndromes
- 18 Hutchinson–Gilford progeria syndrome
- 19 Blue rubber bleb nevus syndrome
- 20 Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu)
- 21 Hereditary neurocutaneous angiomatosis
- 22 Cutaneous hemangiomas: vascular anomaly complex
- 23 Sturge–Weber syndrome
- 24 Lesch–Nyhan syndrome
- 25 Multiple carboxylase deficiency
- 26 Homocystinuria due to cystathionine β-synthase (CBS) deficiency
- 27 Fucosidosis
- 28 Menkes disease
- 29 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
- 30 Cerebrotendinous xanthomatosis
- 31 Adrenoleukodystrophy
- 32 Peroxisomal disorders
- 33 Familial dysautonomia
- 34 Fabry disease
- 35 Giant axonal neuropathy
- 36 Chediak–Higashi syndrome
- 37 Encephalocraniocutaneous lipomatosis
- 38 Cerebello-trigemino-dermal dysplasia
- 39 Coffin–Siris syndrome: clinical delineation; differential diagnosis and long-term evolution
- 40 Lipoid proteinosis
- 41 Macrodactyly–nerve fibrolipoma
- Index
- References
Summary
Haberland and Perou (1970) reported a child with a novel neurocutaneous syndrome, encephalocraniocutaneous lipomatosis. He was a 5½-year-old boy who presented with neonatal seizures. Subcutaneous masses in the scalp and posterior aspect of the neck as well as abnormalities of the eyelid, sclera and face were noted. There was a protuberance of the skull. All of the lesions were unilateral. A pneumoencephalogram demonstrated a large porencephalic cyst ipsilateral to the skin lesions. The child was severely retarded and died at 5½years of age. At postmortem examination, abnormalities were limited to the central nervous system (see section on Pathology), skull and skin, except for the heart which showed excessive amounts of fat along the coronary sulcus and subepicardial patches of fat. The aortic and pulmonary cusps were myxomatous in consistency and the myocardium was infiltrated with adipose tissue.
Fishman et al. (1978) and Fishman (1987) subsequently reported three additional patients who closely resembled the initial patient reported by Haberland and Perou (1970). Their psychomotor skills were not as impaired as the previously reported patient. All had seizures. Unilateral soft tissue tumors of the scalp with overlying alopecia, ipsilateral tumors of the sclera and skin tags of the face and/or eyelids were present in everyone. Neuroimaging revealed ipsilateral cerebral hemiatrophy, porencephaly, defective opercularization, and two of the three had parenchymal calcifications and calcified vascular lesions.
Sanchez et al. (1981) reported another patient with encephalocraniocutaneous lipomatosis, who had very similar findings and clinical picture to the previously reported cases.
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- Chapter
- Information
- Neurocutaneous Disorders , pp. 301 - 305Publisher: Cambridge University PressPrint publication year: 2004
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