Condradi - Humermann Syndrome

Question 1

What type of inheritance is associated with Conradi-Hunermann syndrome?

Answer 1

X-linked dominant

The responsible gene is the Emopamil-binding protein (EBP) gene located on Xp11.

Question 2

What is the primary method for prenatal diagnosis of Conradi-Hunermann syndrome?

Answer 2

Ultrasound evaluation of long bones

Question 3

What is the incidence of Conradi-Hunermann syndrome?

Answer 3

Rare; usually lethal in males; reports of surviving males both with/without 47, XXY

Question 4

At what age does Conradi-Hunermann syndrome typically present?

Answer 4

Birth

Question 5

What causes the pathogenesis of Conradi-Hunermann syndrome?

Answer 5

Mutation in the EBP gene or 3-hydroxysteroid-87-isomerase leading to a defect in cholesterol biosynthesis

Question 6

What skin feature is characteristic of Conradi-Hunermann syndrome in infancy?

Answer 6

Ichthyosiform erythroderma in Blaschko’s lines

Question 7

What happens to the skin condition associated with Conradi-Hunermann syndrome as the individual ages?

Answer 7

Resolves with follicular atrophoderma and/or hyperpigmentation

Question 8

What hair condition is associated with Conradi-Hunermann syndrome?

Answer 8

Coarse, patchy alopecia

Question 9

What ocular feature is noted in Conradi-Hunermann syndrome?

Answer 9

Asymmetric focal cataracts

Question 10

What musculoskeletal features are present in Conradi-Hunermann syndrome?

Answer 10

• Stippled epiphyses (punctate calcifications)
• Asymmetric limb shortening
• Short stature
• Scoliosis

Question 11

What cranofacial features are associated with Conradi-Hunermann syndrome?

Answer 11

• Frontal bossing
• Macrocephaly
• Flat nasal root
• Asymmetry

Question 12

What central nervous system issue is rare in Conradi-Hunermann syndrome?

Answer 12

Mental retardation

Question 13

Name one condition included in the differential diagnosis of Conradi-Hunermann syndrome.

Answer 13

• Autosomal recessive rhizomelic chondrodysplasia punctata
• X-linked recessive chondrodysplasia punctata with steroid sulfatase deficiency
• CHILD syndrome
• Incontinentia pigmenti

Question 14

What laboratory data may be useful in diagnosing Conradi-Hunermann syndrome?

Answer 14

• Bone films
• Neonatal skin biopsy (may reveal calcium in the epidermis with von Kossa’s stain)
• Peroxisomal function in cultured fibroblasts

Question 15

What specialists should be involved in the management of Conradi-Hunermann syndrome?

Answer 15

• Orthopedist
• Dermatologist
• Ophthalmologist

Question 16

What is the prognosis for individuals with Conradi-Hunermann syndrome?

Answer 16

Ichthyosis and stippled epiphyses resolve after infancy; orthopedic complications predominate with normal life span