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两名面容异常、头皮毛发干异常的同胞出现不明原因腹泻和发育不良：一种新综合征。

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

作者信息

Stankler L, Lloyd D, Pollitt R J, Gray E S, Thom H, Russell G

出版信息

Arch Dis Child. 1982 Mar;57(3):212-6. doi: 10.1136/adc.57.3.212.

DOI:10.1136/adc.57.3.212
PMID:7073301
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1627586/
Abstract

A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhoea, and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino-acid composition, and presented an appearance that was unique on scanning electron microscopical examination; this fact and the clinical picture probably represents a new syndrome.

摘要

本文描述了一个家庭，父母健康，但他们的两个孩子面部异常、持续腹泻并早夭。详尽的病理和生化检查未能找出病因。两个婴儿的头皮毛发氨基酸组成异常，在扫描电子显微镜检查下呈现出独特外观；这一事实及临床表现可能代表一种新综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/2628b52b6c4a/archdisch00760-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/52e96724d3cd/archdisch00760-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/cb0a08386424/archdisch00760-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/2628b52b6c4a/archdisch00760-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/52e96724d3cd/archdisch00760-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/cb0a08386424/archdisch00760-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6313/1627586/2628b52b6c4a/archdisch00760-0054-a.jpg

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Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.两名面容异常、头皮毛发干异常的同胞出现不明原因腹泻和发育不良：一种新综合征。
Arch Dis Child. 1982 Mar;57(3):212-6. doi: 10.1136/adc.57.3.212.
2
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Gastroenterology. 1978 Nov;75(5):783-90.
3
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?两名患有先天性心脏病、轴后多指畸形、异位神经垂体、毛发异常和特征性面部特征的女性同胞：一种新综合征？
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Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.伴有面部畸形、结节性脆发症和肝硬化的婴儿难治性腹泻。
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Cureus. 2024 Dec 14;16(12):e75687. doi: 10.7759/cureus.75687. eCollection 2024 Dec.
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Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

本文引用的文献

1
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。
Pediatrics. 1962 May;29:764-79.
2
A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.一种可能为遗传性的疾病，其特征为严重智力缺陷和氨基酸代谢持续明显异常。
Lancet. 1958 Jan 25;1(7013):182-7. doi: 10.1016/s0140-6736(58)90666-4.
3
Diameter and amino acid changes in hair of Negro children with protein-calorie malnutrition.
扩展毛心肠综合征的表型和基因型特征：来自五个无关联家族的 8 例患者报告。
Mol Biol Rep. 2024 Jun 14;51(1):736. doi: 10.1007/s11033-024-09656-6.
4
Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.先天性腹泻和肠病的饮食管理 - 一般概念和疾病特异性方法，叙述性综述。
Am J Clin Nutr. 2024 Jul;120(1):17-33. doi: 10.1016/j.ajcnut.2024.05.004. Epub 2024 May 9.
5
Novel mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.毛发肝肠综合征患者的新突变：病例报告及文献综述
Transl Pediatr. 2022 Jun;11(6):1050-1057. doi: 10.21037/tp-21-574.
6
Case Report: A Novel Homozygous Frameshift Mutation of the Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis.病例报告：一名毛发肝肠综合征患者出现身材矮小、卵巢早衰和骨质疏松，该基因存在一种新型纯合移码突变。
Front Genet. 2022 Apr 27;13:879899. doi: 10.3389/fgene.2022.879899. eCollection 2022.
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A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.一例伴有SKIV2L基因新变异突变的轻度毛发肝肠综合征病例报告
Cureus. 2021 Nov 9;13(11):e19404. doi: 10.7759/cureus.19404. eCollection 2021 Nov.
8
Histopathology of intestinal villi in neonatal and paediatric age: main features with clinical correlation - Part I.新生儿和儿科时期肠绒毛的组织病理学：主要特征与临床相关性 - 第一部分。
Pathologica. 2022 Feb;114(1):12-21. doi: 10.32074/1591-951X-337. Epub 2021 Dec 2.
9
Case Report: Novel Compound-Heterozygous Variants of Gene that Cause Trichohepatoenteric Syndrome 2.病例报告：导致毛发肝肠综合征2型的基因新型复合杂合变异体
Front Genet. 2021 Oct 6;12:756451. doi: 10.3389/fgene.2021.756451. eCollection 2021.
10
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.毛发-肝-肠综合征：沙特阿拉伯的回顾性多中心经验。
Saudi J Gastroenterol. 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21.
蛋白质 - 热量营养不良的黑人儿童头发的直径和氨基酸变化
Proc Soc Exp Biol Med. 1966 Nov;123(2):542-4. doi: 10.3181/00379727-123-31537.
4
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.患有智力和身体发育迟缓以及结节性脆发病且头发氨基酸组成异常的同胞。
Arch Dis Child. 1968 Apr;43(228):211-6. doi: 10.1136/adc.43.228.211.
5
A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content.一种先天性毛发缺陷：具有交替双折射和低硫含量的裂发症。
J Invest Dermatol. 1970 Jun;54(6):496-509. doi: 10.1111/1523-1747.ep12259317.
6
Congenital hair defects.
Birth Defects Orig Artic Ser. 1971 Jun;7(8):52-68.
7
Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings.来自智障同胞的正常头发和胱氨酸缺乏头发的蛋白质。
Biochem J. 1971 May;122(4):433-44. doi: 10.1042/bj1220433.
8
Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.
Arch Dermatol. 1971 Jul;104(1):4-13.
9
Neonatal hair as a record of intra-uterine nutrition.新生儿毛发作为子宫内营养状况的记录。
Biol Neonate. 1974;25(3-4):208-18. doi: 10.1159/000240693.
10
The physicochemical properties of hair in the BIDS syndrome.布-伊-德三氏综合征中毛发的物理化学性质
Am J Hum Genet. 1976 Sep;28(5):514-21.