Acronym: Congenital Hemidysplasia with Ichthyosiform Erythroderma & Limb defects
- Etiology
- XLD (X linked dominant)
- seen in females with manifestations in mosaiform distribution due to X inactivation, typically hemicorporal
- Lethal in male embryos (sĂł sobrevivem se XXY ou mosaico)
- Mutation in NSDHL gene → cholesterol biosynthesis (important → treatment implication)
- Block of cholesterol synthesis causes built-up of toxic metabolites
- Clinical presentation
- Skin
- Verruciform epidermal hyperplasia, broad parakeratotic corneal layer, aggregations of neutrophils stimulating a psoriasiform dermatitis
- Ipsilateral erythema and overlying waxy/yellow scale; sharp midline demarcation
- Erythema may improve with time
- Ipsilateral skeletal hypoplasia, nail dystrophy, linear alopecia
- Chondrodysplasia punctata (stippled epiphyses) on radiography
- Visceral organ involvement:
- cardiac,
- renal,
- brain,
- lungs
- Can be treated by blocking cholesterol synthesis
- Topical 2% lovastatin e 2%colesterol (responde muito bem)
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