We present a case of Cronkhite–Canada syndrome, which is a rare disease classically characterised by hyperpigmentation, alopecia and onychodystrophy associated with clinical gastrointestinal symptoms ...and hamartomatous gastrointestinal polyps. Management primarily involves immunosuppression and nutritional support, which led to remission in this case. The recognition of cutaneous features may lead to early diagnosis and reduce morbidity and mortality.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, which manifests as cutaneous leiomyomas (CL), uterine fibroids and renal cell cancer (RCC). We describe ...the case of a 53‐year‐old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (FH) gene IVS 9–1 G>C (NM_000143.3:c 1391–1 G>C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. This report highlights the importance of clinical suspicion in the diagnosis of HLRCC in the absence of a family or personal history of cancer and despite initial genetic testing being negative.
Abstract
We present a case of Cronkhite–
C
anada syndrome, which is a rare disease classically characterised by hyperpigmentation, alopecia and onychodystrophy associated with clinical ...gastrointestinal symptoms and hamartomatous gastrointestinal polyps. Management primarily involves immunosuppression and nutritional support, which led to remission in this case. The recognition of cutaneous features may lead to early diagnosis and reduce morbidity and mortality.
Children who have been adopted through the child welfare system often have significant challenges regarding adjustment issues, psychological scars, and relational deficits. Post-adoption services can ...be instrumental in helping parents weather the storm of caring for a special needs adopted child and preventing adoption failure. Given that adoption preservation services can aid in the prevention of negative adoption outcomes, this qualitative study aims to discern from adoptive parents' own experience and voice, how adoption preservation services were helpful to their parenting success.
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