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Disorders of Keratinization

»	What are the ichthyosiform dermatoses?
»	What does “ichthyosis” mean?
»	How common are the congenital ichthyoses? How are they inherited?
»	What features help differentiate the most common inherited ichthyoses?
»	What genetic defect is responsible for X-linked ichthyosis (XLI)?
»	What additional phenotypes may patients with XLI contiguous gene syndromes exhibit?
»	What important birth history may be obtained in patients with XLI?
»	Name the hereditary syndromes presenting with ichthyosis as a component.What is a collodion baby?
»	What is a harlequin fetus?
»	Name several conditions associated with acquired ichthyosis.
»	Are laboratory tests helpful in the diagnosis of ichthyoses?
»	Is prenatal diagnosis of congenital ichthyosis possible?
»	How is ichthyosis treated?
»	What is Hailey-Hailey disease?
»	How does Hailey-Hailey disease present?
»	Do any factors exacerbate the skin changes of Hailey-Hailey?
»	Which diseases may be confused with Hailey-Hailey disease?
»	How is Hailey-Hailey disease treated?
»	What is Darier’s disease?
»	How is Darier’s disease diagnosed?
»	Are there any nail or hair changes in Darier’s disease?
»	Is Darier’s disease difficult to treat?
»	What is a collodion baby?

Name the hereditary syndromes presenting with ichthyosis as a component.What is a collodion baby?

See Table 4-2.

Table 4-2. Hereditary Syndromes with Ichthyosis
	SYNDROME	CLINICAL FEATURES	SKIN FINDINGS	DEFECT
	Conradi-Hünermann disease (chondrodysplasia punctata)	Chondrodysplasia punctata, limb defects, cataracts, cardiovascular and renal abnormalities, mental retardation	Congenital ichthyosiform erythroderma (CIE), whorled hyperpigmentation, palmoplantar keratoderma	Sterol isomerase emopamil– binding protein
	CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome	Hemidysplasia and limb defects with sharp midline demarcation	CIE	NAD(P)H steroid dehydrogenase– like protein
	Sjögren-Larsson syndrome	Spasticity, mental retardation, retinal degeneration	Lamellar scales	Fatty aldehyde dehydrogenase
	Chanarin-Dorfman syndrome (neutral lipid storage disease)	Fatty liver, myopathy, cataracts, deafness, CNS defects	CIE	Impaired long-chain fatty acid oxidation
	Netherton’s syndrome	Trichorrhexis invaginata (bamboo hairs), atopy, aminoaciduria	Ichthyosis linearis circumflexa	SPINK5 gene
	Refsum’s disease	Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa	Like ichthyosis vulgaris	Phytanoyl-CoA hydroxylase
	Multiple sulfatase deficiency	Metachromatic leukodystrophy, hepatosplenomegaly	Like X-linked ichthyosis	Sulfatase modifying factor-1 gene
	Trichothiodystrophy (PIBIDS)	Photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature	CIE	Xeroderma pigmentosa D or B gene
	KID (keratitis-ichthyosisdeafness) syndrome	Keratitis, neurosensory deafness, alopecia	Grainy, spiculated scaling	Connexin 26 gene