Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Rabah M. Shawky; Solaf M. Elsayed; Heba Amgad

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Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

机译：常染色体隐性鱼鳞病伴肢体减少缺陷：简单关联而不是儿童综合征

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Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement.

机译：鱼鳞病是一种遗传和表型异质性疾病，可以隔离并局限于皮肤表现或与皮肤外症状相关。其中之一是被称为“儿童综合症”的肢体减少缺陷。胆固醇生物合成的罕见先天性代谢错误，通常仅限于身体的一侧。在这里，我们描述了一个埃及儿童，该儿童患有全身性板状鱼鳞病和肢体减少缺陷。这很可能是一种简单的关联，并非少见的双侧皮肤受累儿童综合症。

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《Egyptian Journal of Medical Human Genetics》 |2016年第3期|共4页
作者
Rabah M. Shawky; Solaf M. Elsayed; Heba Amgad;
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中图分类遗传学;
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1. Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan [J] . Kurosawa Michiko, Uehara Ritei, Takagi Atsushi, Journal of the American Academy of Dermatology . 2019,第5期

机译：日本常染色体隐性先天性病症和ICHThyosis综合征的全国性流行病学调查结果
2. Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders [J] . Yang Catherine S., Pomerantz Hyemin, Mannava Kathleen A., Journal of the American Academy of Dermatology . 2016,第5期

机译：比较X连锁隐性鱼鳞病和常染色体隐性先天性鱼鳞病与转谷氨酰胺酶1突变的患者的组织病理学：国家鱼鳞病和相关皮肤病登记系统的报告
3. Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. [J] . Balasubramanian M, Collins AL European journal of medical genetics . 2009,第4期

机译：皮肤发育不良先天性发育不全，末梢肢体缺损和脑室白细胞软化症在一个同胞中发生，在另一个可能的常染色体隐性亚当斯-奥利夫综合症中表现较轻。
4. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
5. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015

机译：在寻找一种新的常染色体隐性非综合征性智力障碍的病因。
6. Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: a report from the National Registry for Ichthyosis and Related Skin Disorders [O] . Catherine S. Yang, Hyemin Pomerantz, Kathleen A. Mannava, -1

机译：比较X连锁隐性鱼鳞病和常染色体隐性先天性鱼鳞病与转谷氨酰胺酶1突变的患者的组织病理学：国家鱼鳞病和相关皮肤病登记系统的报告
7. Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome [O] . Rabah M. Shawky, Solaf M. Elsayed, Heba Amgad 2016

机译：具有肢体缩小缺陷的常染色体隐性鱼鳞病：一种简单的关联而不是CHILD综合征

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

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