Ichthyosis

Autores de IBSAL

• Carlos Gutiérrez Cerrajero

  Autor

• Alejandro Hernández Martín

  Autor

• 

  Rogelio González Sarmiento

  Autor

Autores ajenos a IBSAL

• Sprecher, E
• Paller, AS
• Akiyama, M
• Mazereeuw-Hautier, J

Grupos

• IIMD-07 - Medicina molecular

  

  Investigador Principal

  Rogelio González Sarmiento

Abstract

The ichthyoses are a group of dermatological disorders characterized by generalized scaly, erythematous skin, accompanied by epidermal barrier function disruptions. This Primer by Gutierrez-Cerrajero and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of ichthyosis, and discusses patient quality of life and open research questions for this condition. The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation. Disordered cornification is clinically characterized by skin scaling with various degrees of thickening, desquamation (peeling) and erythema (redness). Regardless of the type of ichthyosis, many patients suffer from itching, recurrent infections, sweating impairment (hypohidrosis) with heat intolerance, and diverse ocular, hearing and nutritional complications that should be monitored periodically. The characteristic clinical features are considered to be a homeostatic attempt to repair the skin barrier, but heterogeneous clinical presentation and imperfect phenotype-genotype correlation hinder diagnosis. An accurate molecular diagnosis is, however, crucial for predicting prognosis and providing appropriate genetic counselling. Most ichthyoses severely affect patient quality of life and, in severe forms, may cause considerable disability and even death. So far, treatment provides only symptomatic relief. It is lifelong, expensive, time-consuming, and often provides disappointing results. A better understanding of the molecular mechanisms that underlie these conditions is essential for designing pathogenesis-driven and patient-tailored innovative therapeutic solutions.

Keywords

• RECESSIVE CONGENITAL ICHTHYOSIS; MULTIPLE SULFATASE DEFICIENCY; CLATHRIN-MEDIATED ENDOCYTOSIS; PERMEABILITY BARRIER FUNCTION; TRANSGLUTAMINASE 1 ACTIVITY; HEALING COLLODION BABY; OF-FUNCTION MUTATIONS; X-LINKED ICHTHYOSIS; NEU-LAXOVA SYNDROME; LAMELLAR ICHTHYOSIS