Conradi-Hünermann-Happle syndrome

Authors

  • Alejandra Toquica
  • Mónica Novoa
  • Diana Barrera
  • Antonio Barrera

Keywords:

Ichthyosis, chondrodysplasia punctata, inheritance patterns.
Abstract Authors References How to Cite Downloads

Abstract

The Conradi-Hünermann-Happle syndrome is an inherited X-linked dominant variant of chondrodysplasia punctata. It is considered a rare genodermatoses with cutaneous and extracutaneous involvement that occur since birth. Four cases diagnosed with Conradi-Hünermann-Happle syndrome in different stages of life are presented.

Author Biographies

Alejandra Toquica

Médica, residente de Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital de San José, Bogotá, D.C., Colombia.

Mónica Novoa

Médica dermatóloga pediatra; docente del programa de posgrado en Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital de San José, Hospital Infantil Universitario de San José, Bogotá, D.C., Colombia.

Diana Barrera

Médica dermatóloga pediatra; docente del programa de posgrado en Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital de San José, Hospital Infantil Universitario de San José, Bogotá, D.C., Colombia.

Antonio Barrera

Médico dermatólogo pediatra, dermatopatólogo; jefe, Servicio de Dermatología Pediátrica; docente, programa de posgrado en Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital Infantil Universitario de San José, Bogotá, D.C., Colombia.

References

1. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze, 2009. J Am Acad Dermatol. 2010;63:607-41.
2. Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 2012;166:830-8.
3. Feldmeyer L, Mevorah B, Grzeschik KH, Huber M, Hohl D. Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). Br J Dermatol. 2006;154:766-9.
4. Cañueto J, Girós M, González-Sarmiento R. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. Biochim Biophys Acta. 2014;1841:336-44.

How to Cite

1.
Toquica A, Novoa M, Barrera D, Barrera A. Conradi-Hünermann-Happle syndrome. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2019 Aug. 9 [cited 2024 Jul. 3];24(3):223-5. Available from: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/1114

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Published

2019-08-09

How to Cite

1.
Toquica A, Novoa M, Barrera D, Barrera A. Conradi-Hünermann-Happle syndrome. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2019 Aug. 9 [cited 2024 Jul. 3];24(3):223-5. Available from: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/1114

Issue

Vol. 24 No. 3 (2016): July – September

Section

Case Report
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