Publications by authors named "Lindsay A Middelton"

Article Synopsis
  • * Among the three cases with confirmed kidney tumors, it marks the first known link between these two syndromes in adults, while the fourth case had skin lesions known as fibrofolliculomas.
  • * Our findings indicate that individuals with Smith-Magenis syndrome should begin kidney cancer screening at age 20, similar to guidelines for Birt-Hogg-Dubé syndrome.
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Von Hippel-Lindau (VHL) is a hereditary multisystem disorder caused by germline alterations in the VHL gene. VHL patients are at risk for benign as well as malignant lesions in multiple organs including kidney, adrenal, pancreas, the central nervous system, retina, endolymphatic sac of the ear, epididymis, and broad ligament. An estimated 30%-35% of all families with VHL inherit a germline deletion of one, two, or all three exons.

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Objective: To describe a family in which 3 members presented with mixed epithelial tumor of the kidney (MEST) and were found to possess a germline mutation in CDC73, a gene which is associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT).

Materials And Methods: Blood and tumor DNA from three family members who presented with a primary diagnosis of MEST was subjected to targeted gene sequencing to identify potential genetic components.

Results: A germline start codon mutation (p.

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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a familial cancer syndrome associated with the development of cutaneous and uterine leiomyomas, and an aggressive form of type 2 papillary kidney cancer. HLRCC is characterized by germline mutation of the FH gene. This study evaluated the prevalence and clinical phenotype of FH deletions in HLRCC patients.

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Importance: Cutaneous leiomyomas can be associated with severe paroxysmal pain in which nerve conduction may have a key role. Medical management of painful cutaneous leiomyomas is generally unsatisfactory.

Objective: To assess the efficacy of intralesional botulinum toxin A in the management of pain associated with cutaneous leiomyomas.

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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition in which susceptible individuals are at risk for the development of cutaneous leiomyomas, early onset multiple uterine leiomyomas and an aggressive form of type 2 papillary renal cell cancer. HLRCC is caused by germline mutations in the fumarate hydratase (FH) gene which inactivate the enzyme and alters the function of the tricarboxylic acid (Krebs) cycle. Issues surrounding surveillance and treatment for HLRCC-associated renal cell cancer were considered as part of a recent international symposium on HLRCC.

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Purpose: Cowden syndrome is a hereditary cancer syndrome associated with a germline mutation in PTEN. Patients are predisposed to multiple malignancies including renal cell carcinoma.

Materials And Methods: Patients with Cowden syndrome were evaluated as part of a clinical protocol.

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In addition to the associated cutaneous and pulmonary manifestations, individuals with the Birt-Hogg-Dubé (BHD) syndrome have an increased risk of developing kidney cancer, which is often bilateral and multifocal. The risk of developing a renal tumor in this population does not decrease with age and therefore warrants a lifelong screening approach. We recommend abdominal imaging every 36 months in individuals without renal lesions at initial screening.

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Clinicians and scientists understand the medical implications of BHD; however, what may not be apparent to clinicians and scientists are the psycho-social aspects of living with BHD. Although medical reality differs among people who have Birt-Hogg-Dubé, they often share multiple non-medical ramifications ranging from economic and physical insecurity to interruptions in familial communication patterns and relationships. Physicians cognizant of the psycho-social aspects of having BHD are in a position to offer enhanced and meaningful non-medical interventions and care to their patient with BHD.

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