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[Conradi-Hünermann-Happle syndrome].

AbstractBACKGROUND:
Conradi-Hünermann-Happle syndrome is caused by a mutation in the emopanil binding protein-gene (EBP), which encodes the enzyme 3β-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.
AuthorsStephanie F F W Bukkems, Wim J Ijspeert, Maaike Vreenurg, Lodewijk W van Rhijn, Jaap J P Schrander, Maurice A M van Steensel
JournalNederlands tijdschrift voor geneeskunde (Ned Tijdschr Geneeskd) Vol. 156 Issue 10 Pg. A4105 ( 2012) ISSN: 1876-8784 [Electronic] Netherlands
Vernacular TitleHet syndroom van Conradi-Hünermann-Happle.
PMID22394443 (Publication Type: Case Reports, English Abstract, Journal Article)
Topics
  • Chondrodysplasia Punctata (diagnosis)
  • Female
  • Humans
  • Infant
  • Interdisciplinary Communication
  • Patient Care Team

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