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Respiratory manifestation of yellow nail syndrome: a case report and literature review.

ABSTRACT: Yellow nail syndrome (YNS) is a rare disorder, and diagnosis is based on the clinical findings and the exclusion of other possible causes; the pathogenesis is poorly understood. YNS can be an isolated condition or associated with other diseases; however, YNS associated with multiple myeloma (MM) is rare. A 53-year-old male patient presented with coughing and shortness of breath, and he was diagnosed with YNS with MM. He underwent chemotherapy and achieved a good response. Although the etiology of YNS remains unknown, treating the underlying disease may help prevent or relieve the clinical signs.

SUBMITTER: Xu S

PROVIDER: S-EPMC8670787 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Respiratory manifestation of yellow nail syndrome: a case report and literature review.

Xu Shan S Wu Xiaohong X

The Journal of international medical research 20211201 12

Yellow nail syndrome (YNS) is a rare disorder, and diagnosis is based on the clinical findings and the exclusion of other possible causes; the pathogenesis is poorly understood. YNS can be an isolated condition or associated with other diseases; however, YNS associated with multiple myeloma (MM) is rare. A 53-year-old male patient presented with coughing and shortness of breath, and he was diagnosed with YNS with MM. He underwent chemotherapy and achieved a good response. Although the etiology o ...[more]

PMID: 34878939

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Project description:Kindler syndrome (KS) is a rare autosomal recessive genodermatosis characterized by congenital acral blistering, that typically presents in infancy and is followed by the development of characteristic poikilodermatous pigmentation and photosensitivity in later life. These clinical manifestations arise from mutations in the FERMT-1 (Fermitin family homologue 1) that encodes kindlin-1, a protein localized to focal adhesions in keratinocytes. Kindlin-1 plays a crucial role in integrin receptor activation, which is essential for cell adhesion and migration. Most KS cases exhibit reduced or absent kindlin-1 expression, leading to defective integrin activation and impaired cell adhesion and migration processes. This impaired cell adhesion ultimately results in the blistering phenotype observed in KS. Oral manifestations of KS are frequently under-reported and misdiagnosed, potentially leading to delayed or incorrect treatment. Furthermore, diabetes mellitus (DM) can further exacerbate the severity of KS due to impaired epidermal barrier function and compromised periodontal health. This co-morbidity creates a synergistic effect. Periodontal infection, often exacerbated by DM through a caspase-3-dependent mechanism, can cause apoptosis of epithelial cells and fibroblasts. This enhanced apoptosis and loss of epithelial barrier function due to DM further hinder tissue repair processes. Consequently, both cutaneous and oral complications associated with KS become more severe in diabetic patients. We report a unique case of a diabetic adolescent with KS presenting with a massive oral pyogenic granuloma and extensive periodontal destruction with a comprehensive review of the literature exploring the current understanding of oral manifestations in KS, emphasizing their under-diagnosis and potential for exacerbation by DM. This case emphasizes the need for increased awareness of oral manifestations in KS, especially in diabetic patients. Early diagnosis and a multidisciplinary approach are crucial for optimal management of cutaneous and oral complications associated with KS.

Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

Dataset Information

Respiratory manifestation of yellow nail syndrome: a case report and literature review.

Publications

Respiratory manifestation of yellow nail syndrome: a case report and literature review.

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