Tsivilika Maria, Kavvadas Dimitrios, Karachrysafi Sofia, Sioga Antonia, Papamitsou Theodora
Histology and Embryology Department, Faculty of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Children (Basel). 2022 Jun 15;9(6):893. doi: 10.3390/children9060893.
Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the cassette (lipid-transporter adenosine triphosphate-binding cassette ). Neonates affected by this disease are born with specific morphological characteristics, the most prominent of which is the appearance of platelet keratotic scales separated by erythematous fissures. The facial features include eclabium, ectropion, a distinct flattened nose, and dysplastic ears. A common finding among those with HI is impaired skin barrier function. The purpose of the present narrative review is to assess the most recent literature regarding the management of HI. Emphasis is given to surgical management and consultation, to the indications for timing and surgical intervention, to the risks that are presented with surgery, and to the details of the surgical procedure itself. Management of HI requires a multidisciplinary team of experts, and specific guidelines are needed in order for the risks to be minimized and viability to be increased.
丑角样鱼鳞病（HI）是一种危及生命的遗传性疾病，主要影响婴儿皮肤。HI是常染色体隐性鱼鳞病中最严重的一种形式。它由ABC转运蛋白（脂质转运三磷酸腺苷结合盒）基因突变引起。受此疾病影响的新生儿出生时具有特定的形态特征，其中最突出的是出现被红斑性裂隙分隔的板层状角质鳞片。面部特征包括唇外翻、睑外翻、明显扁平的鼻子和发育不良的耳朵。HI患者的一个常见表现是皮肤屏障功能受损。本叙述性综述的目的是评估关于HI治疗的最新文献。重点在于手术治疗与会诊、手术时机和干预的指征、手术带来的风险以及手术过程本身的细节。HI的治疗需要多学科专家团队，并且需要特定的指导方针以将风险降至最低并提高生存几率。
