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Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review.

ABSTRACT: Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. FAM111B gene with multiple mutations has been identified as a potential causative gene for congenital poikiloderma. In this report, we described a boy with congenital poikiloderma confirmed by clinical manifestations. Next-generation sequencing based on a gene probe panel consisting of 541 genetic loci of genodermatoses, was used to screen mutations of the proband and his parents. Results showed that a missense mutation in the FAM111B gene c.1883G>A (rs587777238) was identified in the proband, but absent in his parents, indicating the mutation is de novo. In conclusion, a new case of congenital poikiloderma in China was reported, and the hotspot mutations in codon 628 of FAM111B gene was reviewed, as well as authenticating the uncertain association between genotypes and phenotypes in this rare disease.

SUBMITTER: Wu Y

PROVIDER: S-EPMC9452834 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Case Report: Diverse phenotypes of congenital poikiloderma associated with <i>FAM111B</i> mutations in codon 628: A case report and literature review.

Wu Yuhao Y Wen Long L Wang Peiru P Wang Xiuli X Zhang Guolong G

Frontiers in genetics 20220825

Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. <i>FAM111B</i> gene with multiple mutations has been identified as a potential causative gene for congenital poikiloderma. In this report, we described a boy with congenital poikiloderma confirmed by clinical manifestations. Next-generation sequencing based on a gene probe panel consisting of 541 genetic loci of genod ...[more]

PMID: 36092869

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Project description:IntroductionAnomalous congenital bands are a rare cause of intestinal obstruction, with only five previously reported cases involving duodenal obstruction. We present a fifth case of duodenal obstruction due to two congenital bands and provide a comprehensive literature review summarizing the clinical features of this condition.Case reportAn eight-year-old girl was admitted to our department with recurrent bilious vomiting and abdominal pain lasting six days. She had no significant past medical history, with no previous abdominal surgeries or trauma. Physical examination revealed abdominal tenderness and decreased bowel sounds. Contrast x-ray showed an obstructed passage of contrast through the third part of the duodenum. Abdominal ultrasound identified a strip-like hypoechoic structure compressing the third part of the duodenum. A diagnosis of duodenal obstruction was confirmed, and laparoscopic surgery combined with gastroduodenoscopy was performed. The procedure revealed two congenital bands adjacent to the duodenum: one extending from the duodenum to the transverse colon, and the other from the duodenum to the root of the mesentery. The bands were resected, and gastroduodenoscopy confirmed the resolution of the obstruction.DiscussionWe reviewed 93 cases of anomalous congenital bands, including the present one, comprising 33 adults and 60 children, with 71.0% of the cases involving males. Common symptoms included vomiting and abdominal pain, with physical examinations often showing tenderness and distension. Imaging techniques like plain x-ray, contrast x-ray, ultrasound, and computed tomography often indicated intestinal obstruction but were less effective in directly identifying congenital bands. All cases required abdominal surgery for diagnosis and treatment. Congenital bands were primarily found attached to the ileum or its mesentery and were resected in all cases, with a favorable postoperative prognosis. This case and the literature review provide valuable insights for clinical diagnosis and treatment.

Dataset Information

Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review.

Publications

Case Report: Diverse phenotypes of congenital poikiloderma associated with <i>FAM111B</i> mutations in codon 628: A case report and literature review.

Similar Datasets

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