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Published on: April 26, 2019

[Conradi-Hünermann-Happle syndrome]

Stephanie F F W Bukkems1, Wim J Ijspeert, Maaike Vreenurg

  • 1VieCuri Medisch Centrum voor Noord-Limburg, afd. Kinderrevalidatie, Venlo, the Netherlands. stephaniebukkems@gmail.com

Nederlands Tijdschrift Voor Geneeskunde
|March 8, 2012
PubMed

Insights

Conradi-Hünermann-Happle syndrome, a rare genetic disorder affecting cholesterol metabolism, presents with severe skin abnormalities, skeletal issues, and cataracts. Early diagnosis and multidisciplinary care are crucial for managing this condition.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Conradi-Hünermann-Happle syndrome (CHHS) results from mutations in the emopanil binding protein-gene (EBP).
  • The EBP gene encodes 3β-hydroxysteroid-δ8,7 isomerase, an enzyme critical for cholesterol metabolism.

Observation:

  • A 19-month-old girl presented with CHHS, exhibiting complete erythrodermia at birth, linear ichthyosis, limb shortening, vertebral anomalies, scoliosis, and cataracts.
  • The patient's mother also had CHHS, with a history of linear ichthyosis, leg length discrepancy, and congenital alopecia.

Findings:

  • The case highlights the diverse and severe phenotypic manifestations of CHHS.
  • Genetic mutations in EBP lead to significant developmental and dermatological issues.

Implications:

  • A multidisciplinary approach is essential for the diagnosis and management of children with rare genetic syndromes like CHHS.
  • Collaborative care ensures optimal follow-up for affected patients and their families.
Abstract

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