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Dermatology
ERYTHROKERATODERMAS
Built from Dermatology, 5th Edition
What’s inside
10 sections · 107 slides
Overview
- What this section covers
- A shared vocabulary
Netherton syndrome
A triad of ichthyosis, abnormal hair, and immune dysregulation
- History and naming
- Epidemiology
- The faulty gene: SPINK5
- From gene fault to broken skin barrier
- How the skin looks at birth
- Ichthyosis linearis circumflexa
- Hair shaft abnormalities
- Trichorrhexis invaginata (bamboo hair)
- Immune dysregulation
- Other complications
- Pathology and diagnosis
- Telling NTS apart from look-alikes
- Peeling skin syndromes as a look-alike
- Peeling skin syndromes
- Peeling skin syndromes (continued)
- Treating the newborn with NTS
- Longer-term and emerging treatment
- Netherton syndrome in a neonate and infant
- Double-edged scale of ichthyosis linearis circumflexa
Sjogren-Larsson syndrome
Ichthyosis with spasticity and a telltale retinal finding
- History and epidemiology
- What goes wrong: a stuck fat-recycling step
- Skin findings
- The eye clue: glistening retinal dots
- Perifoveal glistening retinal dots in Sjogren-Larsson syndrome
- Nervous system involvement
- Pathology and diagnosis
- Telling SLS apart from look-alikes
- Treatment
- Sjogren-Larsson syndrome: additional skin findings
Neutral lipid storage disease with ichthyosis
Chanarin-Dorfman syndrome: fat trapped inside the body's own cells
- History, epidemiology, and cause
- Skin findings
- A whole-body disease of fat storage
- Pathology: fat inside white blood cells
- Telling NLSD apart from look-alikes
- Treatment
Trichothiodystrophy with ichthyosis
Brittle, sulfur-poor hair at the center of a wider syndrome
- History and epidemiology
- A defect in the DNA-reading machinery
- Why TTD and xeroderma pigmentosum differ
- Hair, skin, and nail findings
- Photosensitivity and other features
- Pathology: the "tiger-tail" hair pattern
- Diagnosis and differential diagnosis
- Treatment
The erythrokeratodermas
Sharply bordered, thickened plaques that shift and grow over time
- What defines an erythrokeratoderma
Erythrokeratodermia variabilis et progressiva
Two historically separate names for one connexin disease
- History: two names, one disease
- Epidemiology and cause
- The transient red-patch phase
- The stable plaque phase (PSEK)
- Progressive symmetric erythrokeratoderma
- Course and triggers
- Pathology
- Telling EKVP apart: other gene causes of PSEK
- Telling EKVP apart: periorificial patterns
- Telling EKVP apart: other mimics
- Treatment
- Erythrokeratodermia variabilis: additional presentations
- Progressive symmetric erythrokeratoderma: additional patients
Keratitis-ichthyosis-deafness (KID) syndrome
A gap-junction disease that touches skin, eyes, and ears together
- History
- Epidemiology and cause
- Skin findings
- Cyst, infection, and cancer risk
- Additional mucocutaneous manifestations of KID syndrome
- Hearing and eye involvement
- A severe, sometimes fatal neonatal form
- Pathology and diagnosis
- Telling KID apart: recessive look-alikes
- Telling KID apart: other periorificial disorders
- Features of selected syndromic X-linked ichthyosiform disorders
- Treatment
- Radial mouth furrows in KID syndrome
- Grainy palmar keratoderma in KID syndrome
X-linked disorders of cholesterol synthesis
CHILD syndrome and Conradi-Hunermann-Happle syndrome
- One pathway, two diseases
- CHILD syndrome: history and cause
- CHILD syndrome: skin and body findings
- CHILD syndrome: pathology, testing, and mimics
- CHILD syndrome: treatment
- Conradi-Hunermann-Happle syndrome: history and cause
- Conradi-Hunermann-Happle: skin and skeletal findings
- Conradi-Hunermann-Happle: diagnosis and treatment
Other ichthyoses referenced in this chapter
Additional eBook figures for disorders discussed elsewhere in the book
- Disorders touched on above, illustrated here
- Ichthyosis vulgaris: scale pattern and biopsy findings
- Hyperlinear palms in ichthyosis vulgaris
- Filaggrin protein staining in ichthyosis vulgaris
- Epidermolytic ichthyosis in the neonatal period
- Ichthyosis with confetti
- Harlequin ichthyosis
- Further rare syndromic ichthyoses
- Additional rare syndromic ichthyoses and ichthyosiform disorders
- Additional rare syndromic ichthyoses and ichthyosiform disorders (continued)
- Additional rare syndromic ichthyoses and ichthyosiform disorders (continued)
- Additional rare syndromic ichthyoses and ichthyosiform disorders (continued)
- Key takeaways
- Key takeaways, continued
- References
- References
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- References
- References
- References
- Dermatology, 5th Edition (2-Volume Set)