CIHLD syndrome Flashcards
(18 cards)
What is the inheritance pattern of CHILD syndrome?
X-linked dominant
The NSDHL gene on Xq28 is involved.
What is the primary gene associated with CHILD syndrome?
NSDHL gene
on chromosome Xq28
What is the prenatal method for detecting CHILD syndrome?
Ultrasound detection of limb/organ defects
What is the incidence of CHILD syndrome?
Rare; lethal in males
At what age does CHILD syndrome typically present?
Birth to 1 month old
What mutations are primarily responsible for CHILD syndrome?
Mutations in the NSDHL gene encoding for 3-hydroxysteroid dehydrogenase. impacts cholesterol biosynthesis
EBP gene defect (Conradi’s) has also been described.
What type of skin involvement is characteristic of CHILD syndrome?
Unilateral ichthyosiform erythroderma with sharp midline cutoff, trunk and limbs
How does the skin condition in CHILD syndrome typically change with age?
Lesions tend to improve with age but may persist in skin folds (ptychotropism)
What is a common hair finding in CHILD syndrome?
Ipsilateral alopecia
What type of nail condition is associated with CHILD syndrome?
Severe dystrophy
What musculoskeletal abnormalities are seen in CHILD syndrome?
Hypoplasia to agenesis of limbs ipsilateral to ichthyosis; stippled epiphyses
What internal organ issues may be present in CHILD syndrome?
Hypoplasia to agenesis of organs below ichthyosis, affecting CNS, cardiovascular, renal, and genitourinary systems
Name two differential diagnoses for CHILD syndrome.
- Conradi-Hünermann syndrome
- Inflammatory linear verrucous epidermal nevus
Which imaging techniques are used for investigations in CHILD syndrome?
Computed tomography/magnetic resonance imaging (CT/MRI) scan of ipsilateral side
What type of specialist referrals are indicated for management of CHILD syndrome?
- Dermatologist for topical therapy (keratolytic, emollint, topical simvastatin reported), oral retinoid
- Orthopedist
- Organ-specific subspecialist
What factors influence the prognosis of CHILD syndrome?
Dependent on which organs are affected
What is the potential range of prognosis for individuals with CHILD syndrome?
Can range from normal life span to incompatible with life
Whlab ix can you perform for CHILD syndrome? bx findings
“Skin biopsy: CD68, CD163 (+) foam cells, papillary dermis
Electron microscopy: lipid droplets, vacuoles in foam cells
Elevated plasma sterols (C4-methylated and C-4 carboxy intermediates)
Computed tomography (CT)/MRI scan of ipsilateral side”
