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Dermatology
Ichthyoses, Erythrokeratodermas, and Related Disorders
Built from Dermatology, 5th Edition
What’s inside
6 sections · 124 slides
Disorders of Cornification
What ichthyoses and erythrokeratodermas are, and how clinicians tell them apart
- What is a disorder of cornification?
- Historical milestones
- Building the diagnosis: key questions
- Who is affected and how
- Diagnostic work-up for a neonate or infant with ichthyosis: history, exam, and labs
- Diagnostic work-up for a neonate or infant with ichthyosis: cutaneous and extracutaneous clues by numbered disorder
- 1 in 100-250
The Full Classification Map
Two reference tables place every named entity by gene, inheritance, and appearance before the deep-dive sections
- Nonsyndromic ichthyoses and erythrokeratodermas: what this table covers
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- inheritance and onset.
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- inheritance and onset. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- inheritance and onset. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- inheritance and onset. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- inheritance and onset. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- genetics and testing.
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features.
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected nonsyndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Syndromic ichthyoses and erythrokeratodermas: what this table covers
- Features of selected syndromic ichthyoses and erythrokeratodermas -- inheritance and onset.
- Features of selected syndromic ichthyoses and erythrokeratodermas -- inheritance and onset. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- inheritance and onset. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- genetics and testing.
- Features of selected syndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- genetics and testing. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- clinical features.
- Features of selected syndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
- Features of selected syndromic ichthyoses and erythrokeratodermas -- clinical features. (continued)
Common Ichthyoses
Ichthyosis vulgaris and steroid sulfatase deficiency -- the two disorders every clinician meets
- Ichthyosis vulgaris: history and how common it is
- The cause: a missing skin protein called filaggrin
- What filaggrin normally does
- Why filaggrin loss causes more than dry skin
- Mild ichthyosis vulgaris: fine scaling of the legs
- Hyperlinear palms: accentuated skin markings
- Severe ichthyosis vulgaris: complete filaggrin loss
- Ichthyosis vulgaris and allergy go together
- Ichthyosis vulgaris on biopsy: a thin granular layer
- Telling ichthyosis vulgaris apart from look-alikes
- Treating ichthyosis vulgaris
- Steroid sulfatase deficiency: history
- The cause: a missing enzyme called steroid sulfatase
- A surprising effect on labour
- Steroid sulfatase deficiency: dark, adherent scales
- The "dirty neck" pattern
- Beyond the skin: associated findings
- Biopsy findings and carriers
- Confirming the diagnosis in the lab
- Telling it apart, and treating it
Keratinopathic Ichthyoses
Disorders of the keratin scaffold itself: epidermolytic ichthyosis, ichthyosis with confetti, and ichthyosis hystrix Curth-Macklin
- Epidermolytic ichthyosis: history
- Epidermolytic ichthyosis: how common, how inherited
- The cause: keratin filaments that cannot hold together
- How a keratin mutation causes blistering skin
- Classic epidermolytic ichthyosis: from blistering to hyperkeratosis
- Living with classic epidermolytic ichthyosis
- Superficial epidermolytic ichthyosis: milder, with "molting" skin
- A patchy (mosaic) form: epidermolytic epidermal nevi
- Epidermolytic ichthyosis under the microscope
- Telling epidermolytic ichthyosis apart from other newborn rashes
- Treating epidermolytic ichthyosis: the newborn period
- Treating epidermolytic ichthyosis: children and adults
- Retinoids and the future: gene-targeted treatment
- Ichthyosis with confetti: islands of normal skin
- Why normal-skin islands appear: reverted cells
- Ichthyosis hystrix: a look, not a diagnosis
- Ichthyosis hystrix Curth-Macklin: cause and clinical picture
- Ichthyosis hystrix Curth-Macklin: diagnosis and treatment
Autosomal Recessive Congenital Ichthyoses
ARCI: a spectrum from lamellar ichthyosis to congenital ichthyosiform erythroderma, caused by faults in epidermal lipid processing
- ARCI: one spectrum, many genes
- The LI-CIE spectrum: two ends of the same disease group
- ARCI: shared features across the spectrum
- ARCI: history and how common it is
- How an ARCI gene defect thickens the skin
- ARCI genetics at a glance: the lipid-enzyme genes
- TGM1: the most common ARCI gene
- ABCA12: the harlequin ichthyosis gene
- The lipoxygenase genes: ALOX12B and ALOXE3
- NIPAL4: the "ichthyin" gene
- CYP4F22 and CERS3: building the skin's ceramide fats
- PNPLA1, SULT2B1, SDR9C7, and LIPN: the rarer ARCI genes
- Ichthyosis prematurity syndrome: a distinct ARCI form
- The collodion baby: a shared presentation, not one disease
- Self-improving collodion ichthyosis: the mild outcome
- The collodion membrane at birth
- Risks while the membrane is shedding
- What a collodion membrane can turn into
- Diagnosing and treating the collodion baby
- Reference table: how newborn signs point to the diagnosis
- Neonatal presentation of selected ichthyoses and related disorders.
- Neonatal presentation of selected ichthyoses and related disorders. (continued)
- Reference table: what else can present as a collodion baby
- Differential diagnosis of a collodion baby.
- Differential diagnosis of a collodion baby. (continued)
- Lamellar ichthyosis: large, plate-like scales
- Lamellar ichthyosis: the face, hair, and nails
- Lamellar ichthyosis: pathology and diagnostic testing
- Lamellar ichthyosis: telling it apart from CIE
- Treating lamellar ichthyosis: topical care
- Treating lamellar ichthyosis: systemic therapy
- Congenital ichthyosiform erythroderma: fine scale on intense redness
- Congenital ichthyosiform erythroderma: complications
- Congenital ichthyosiform erythroderma: pathology and treatment
- Harlequin ichthyosis: history
- Harlequin ichthyosis: the newborn presentation
- Harlequin ichthyosis: the newborn's risks
- Harlequin ichthyosis: living as a survivor
- Harlequin ichthyosis: pathology and prenatal diagnosis
- Harlequin ichthyosis: treatment
Putting It Together
What every clinician should carry forward from this topic
- Key features: how to think about ichthyoses
- Key features: treating these disorders
- The disorders at a glance
- Dermatology, 5th Edition (2-Volume Set)