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
40 - Lipoid proteinosis
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
Lipoid proteinosis, or Urbach–Wiethe syndrome, is a rare autosomal recessive neurocutaneous disorder characterized by deposits of amorphous hyaline-like material in the skin and mucous membranes (Navarro et al., 1999). Over 300 cases have been reported. Urbach and Weithe have been credited with the first report of lipoid proteinosis (Barthelemy et al., 1986; Newton et al., 1971), but Seibenmann described a 19-year-old girl in 1908 who probably had the same condition (Muda et al., 1995).
Although the disease is rare, it is perhaps more common than was initially suspected because patients with few clinical features sometimes go unrecognized. The disorder is probably more common in people of South African or European descent but occurs in all groups (Hofer, 1973; Botha & Beighton, 1983; Bohme & Wahlgren, 1996; Nagasaka et al., 2000; Nanda et al., 2001).
Clinical manifestations
In most age groups, lipoid proteinosis results in characteristic skin (Figs. 40.1–40.3) and oropharyngeal mucous membrane lesions (Barthelemy et al., 1986; Newton et al., 1971; Muda et al., 1995; Staut & Naidich, 1998). Oral lesions appear before puberty and progress throughout life (Farolan et al., 1992; Barthelemy et al., 1986).
Skin lesions are usually first noted on the face and extremities as erythematous or yellowish papulovesicular eruptions. These skin lesions heal slowly and leave hyperpigmented acne-like scars (Muda et al., 1995). Areas subject to friction (e.g. elbows, heels, knees, and buttocks) become hyperkeratotic (Fig. 40.3) (Emsley & Paster, 1985; Hofer, 1973; Muda et al., 1995; Nanda et al., 2001).
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- Information
- Neurocutaneous Disorders , pp. 318 - 322Publisher: Cambridge University PressPrint publication year: 2004
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