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Ichthyosis
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DOI：10.1038/s41572-022-00412-3.png)
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摘要
En 中文
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.
Keyword:
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
期刊
N
IF:
60.6
论文数:
661
被引数:
4.5W
机构
引用论文
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Autosomal Recessive Keratoderma-Ichthyosis- Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification常染色体隐性角化病-鱼鳞病-耳聋 (ARKID) 综合征是由影响Rab蛋白相互作用和胶原蛋白修饰的VPS33B突变引起的
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