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PLACK syndrome is potentially treatable with intralipids
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-01-07 , DOI: 10.1111/cge.13919 Zinab A Sawan 1, 2 , Ali Almehaidib 2 , Yousef Binamer 3 , Dorota Monies 4, 5 , Khalid A Alsaleem 2 , Wajeeh Aldekhail 2 , Fowzan S Alkuraya 4 , Mohammed Abanemai 2
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-01-07 , DOI: 10.1111/cge.13919 Zinab A Sawan 1, 2 , Ali Almehaidib 2 , Yousef Binamer 3 , Dorota Monies 4, 5 , Khalid A Alsaleem 2 , Wajeeh Aldekhail 2 , Fowzan S Alkuraya 4 , Mohammed Abanemai 2
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We describe an 11‐year‐old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood‐derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid®; an emulsion of fat‐soluble vitamins and lipofundin‐MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic CAST variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.
中文翻译：
PLACK 综合征可能用脂肪乳来治疗
我们描述了一名患有 PLACK 综合征（脱皮、白甲、肢端点状角化病、唇炎和指关节垫）的 11 岁女孩，她被发现在CAST 中有一个新的纯合子变异，其致病性通过血液来源的RNA得到证实。PLACK 综合征没有既定的治疗方法。然而，我们首次证明这种情况与维生素 A 和必需脂肪酸水平低有关，这促使我们考虑潜在的治疗策略。事实上，我们开始给该患者静脉输注脂质（Vitalipid®；脂溶性维生素和 lipofundin-MCT/LCT 20% 的乳剂），效果显着。第四个月疗程后，瘙痒消失，皮损客观改善明显。PLACK 综合征是一种非常罕见的遗传性皮肤病，迄今为止只有六个家族被描述为致病性CAST变体。这是对治疗剂的客观反应的第一份报告，这表明 PLACK 是一种潜在的可治疗疾病。我们报告的显着反应和干预的相对安全性应该促使照顾 PLACK 综合征患者的医疗保健提供者在未来的研究中将其作为潜在的治疗策略进行探索。
更新日期：2021-03-05
中文翻译：
PLACK 综合征可能用脂肪乳来治疗
我们描述了一名患有 PLACK 综合征（脱皮、白甲、肢端点状角化病、唇炎和指关节垫）的 11 岁女孩，她被发现在CAST 中有一个新的纯合子变异，其致病性通过血液来源的RNA得到证实。PLACK 综合征没有既定的治疗方法。然而，我们首次证明这种情况与维生素 A 和必需脂肪酸水平低有关，这促使我们考虑潜在的治疗策略。事实上，我们开始给该患者静脉输注脂质（Vitalipid®；脂溶性维生素和 lipofundin-MCT/LCT 20% 的乳剂），效果显着。第四个月疗程后，瘙痒消失，皮损客观改善明显。PLACK 综合征是一种非常罕见的遗传性皮肤病，迄今为止只有六个家族被描述为致病性CAST变体。这是对治疗剂的客观反应的第一份报告，这表明 PLACK 是一种潜在的可治疗疾病。我们报告的显着反应和干预的相对安全性应该促使照顾 PLACK 综合征患者的医疗保健提供者在未来的研究中将其作为潜在的治疗策略进行探索。
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