Biomedical subjects

Michelle Draznin

Publications and source records attributed to Michelle Draznin.

4 recordsLinked to original sources

PubMed2006

Acrodermatitis enteropathica and an overview of zinc metabolism.

Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.

Acrodermatitis↗

PubMed2006

Melanocortin-1 receptor: loss of function mutations and skin cancer.

We present a red-haired patient who came to our clinic seeking information regarding his predisposition to skin cancer. We discuss the receptor involved in hair color and the allelic variants that lead to red hair. These variants are often characterized by loss of function mutations, which lead to a predisposition to non-melanoma skin cancers, with relative risks reaching as high as a 6.7 in one study. Most concerning, however, is that some of these loss of function mutations may act synergistically with genetic mutations that cause familial melanomas. Thus, red haired patients with familial melanoma syndromes have a greater risk of melanoma than those patients with familial melanoma syndromes alone.

Adult↗

PubMed2005

Apert syndrome.

Explore the source record for details and available documents.

Acrocephalosyndactylia↗

PubMed2004

Hereditary syringomas: a case report.

Syringoma is a benign neoplasm of eccrine origin. Clinically, it is an eruption of small translucent-to-yellowish papules. These lesions are firm, smooth, and approximately 1-3 mm in diameter. They are most commonly found around the eyes and on the upper cheeks of middle-aged women. Lesions sometimes develop on the abdomen, axillae, penis, vulva, and scalp. Involvement of the scalp may be indistinguishable from nonscarring alopecia. Familial cases have been reported, and there is an increased incidence of syringoma in adults with Down syndrome. Eruptive syringoma, a separate entity, presents mostly in adolescents as clusters of numerous papules on the upper half of the body.

Humans↗