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
10 - Epidermal nevus syndromes
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
Introduction
Solomon et al. (1968) proposed the term epidermal nevus syndrome (ENS) to describe the association of epidermal hamartomas and extracutaneous abnormalities. Since the syndrome was first recognized, however, it has been plagued by definitional problems. In the first comprehensive review of ENS, Solomon & Esterly (1975) emphasized that, although some hamartomas have more sebaceous differentiation (i.e. nevus sebaceus), and others more epidermal differentiation (i.e. epidermal nevi), many show differentiation toward several cutaneous appendages. This concept had been previously proposed by Mehregan & Pinkus (1965) who used the term ‘organoid nevus’ to encompass the overlapping histologic features of the disorder.
In the 30 years since Solomon et al. proposed the name ‘epidermal nevus syndrome’, a second major definitional issue has arisen. Advances in genetics have led to an understanding that the cutaneous manifestations of ENS (and likely many of the extracutaneous ones as well) are due genomic mosaicism. Moreover, several different genetic abnormalities can likely lead to similar phenotypes. The appreciation of genetic heterogeneity in epidermal nevi (EN) makes it easier to comprehend the wide variety of both cutaneous and extracutaneous manifestations. Thus, although we continue to use the term ‘epidermal nevus syndrome’, it is now understood that the condition is not one disease, but rather a heterogeneous group defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement.
Happle (1995a) has proposed that several subsets of ENS should be differentiated from one another.
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- Information
- Neurocutaneous Disorders , pp. 88 - 104Publisher: Cambridge University PressPrint publication year: 2004
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