ABSTRACT
BACKGROUND: Conradi-Hünermann-Happle syndrome is caused by a mutation in the emopanil binding protein-gene (EBP), which encodes the enzyme 3ß-hydroxysteroid-dehydrogenase-δ8,7 isomerase. This gene is involved in cholesterol metabolism. CASE DESCRIPTION: In this case report we describe a girl aged 19 months with Conradi-Hünermann-Happle syndrome. This syndrome was characterized in this patient by a complete erythrodermia directly after birth, followed by linear ichthyosis, shortened upper arms and thighs, vertebral anomalies resulting in progressive scoliosis and cataract. The patient's mother was found also to suffer from the Conradi-Hünermann-Happle syndrome. As a child she had linear ichthyosis, difference in leg length and congenital alopecia in a linear pattern. CONCLUSION: For diagnosis and treatment of children with such a rare syndrome a multidisciplinary approach is essential. Multidisciplinary collaboration guarantees an appropriate follow-up for the patient and the family.
