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
14 - Hypomelanosis of Ito
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
Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians was described in 1952 by Ito, a Japanese dermatologist. The importance of HI derives from its frequent association with epilepsy and mental retardation (Pascual-Castroviejo et al., 1988, 1989; Pascual-Castroviejo, 1989; Ruiz-Maldonado et al., 1992). Mosaics for chromosomal abnormalities have been reported for several years in HI patients (Flannery et al., 1985; Flannery, 1990; Koiffmann et al., 1993; Fritz et al., 1998) but are not present in every case. Some authors have argued that HI is merely a symptom or a descriptive term that occurs in many conditions, all of which are characterized by chromosomal mosaicism (Donnai et al., 1988; Thomas et al., 1989; Ritter et al., 1990; Sybert, 1994). In support of this argument, skin lesions which conform to Baschko lines represent genetic mosaicism, but are not always an indication of HI. On the contrary, some authors think that HI is a symptom of mosaicism (Donnai et al., 1988; Thomas et al., 1989; Ritter et al., 1990; Sybert et al., 1990; Happle, 1998). Given the high frequency of neurological dysfunction associated with HI, the absence of typical neonatal signs of incontinentia pigmenti (IP) in all cases of HI, and the absence of chromosomal anomalies in many patients with HI, this hypothesis is difficult to prove.
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- Information
- Neurocutaneous Disorders , pp. 123 - 130Publisher: Cambridge University PressPrint publication year: 2004
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