Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.

BACKGROUND: Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to be reported in related cases. This study aims to explore the clinical phenotype and genetic traits of a patient with congenital myasthenic syndrome due to SLC5A7 gene variation and those of their family members. CASE PRESENTATION: We describe a case of a Chinese male with congenital myasthenic syndrome presenting fluctuating limb weakness. Genetic testing revealed a heterozygous deletion mutation spanning exons 1-9 in the SLC5A7 gene. QPCR confirmed a deletion in exon 9 of the SLC5A7 gene in the patient's mother and brother. Clinical symptoms of myasthenia improved following treatment with pyridostigmine. CONCLUSION: Exons 1, 5, and 9 of the SLC5A7 gene encode the choline transporter's transmembrane region. Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter. Thus, a heterozygous deletion in exons 1-9 of the SLC5A7 gene could be the pathogenic cause for this patient. In patients exhibiting fluctuating weakness, positive RNS, and seronegativity for myasthenia gravis antibodies, a detailed family history should be considered, and enhanced genetic testing is recommended to determine the cause.

Dermoscopy and Histopathology of Hyperkeratosis of Nipple and Areola: A Case Report.

We describe a case involving a 19-year-old female with who presented with bilateral nipple-areola brown patches persisting for five years. The diagnosis of hyperkeratosis of the nipple and areola (HNA) was established through dermoscopy and histopathology. The findings highlight the value of dermoscopy in the diagnosis and differentiation of HNA.

Superficial Acral Fibromyxoma: A Report of Two Cases with CD68 Expression.

Superficial Acral fibroma (SAF), also known as osteofibroma, is a rare fibromatous tumor primarily involving superficial soft tissues. Clinically, SAF typically manifests as a slow-growing, solitary, well-defined nodule or mass. Although these lesions are generally asymptomatic, some cases may present with associated pain, often linked to a history of trauma. SAF lesions commonly exhibit hemispherical, polypoid, or warty growths, with occasional occurrences of ulceration and bleeding.The majority of SAFs express CD34 and CD99, but in the two cases we report, there was diffuse expression of CD34 and focal positive expression of CD68. CD68 positivity suggests a propensity for tumor cells to metastasize to secondary sites. Notably, previously reported cases of single SAF did not display positive CD68 expression, indicating a potential association with other aggressive tumors. However, the current clinical and pathological manifestations do not clarify the diagnosis of additional malignant tumors. Consequently, regular postoperative monitoring of the patient from the aforementioned two cases is essential to detect the presence of other malignant tumors. The significance of CD68-positive expression in this case lies in its potential association with such tumors.