Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

ATR (ataxia telangiectasia and Rad3 related) is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair. Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder.

Leukaemia cutis in a patient treated for breast cancer.

A 47-year-old woman with a history of breast cancer presented with eruptive cutaneous nodules on the trunk and extremities. Treatment for her breast cancer had included surgery, radiation and chemotherapy with doxorubicin and cyclophosphamide. Biopsy of the skin lesions revealed leukaemia cutis, which led to the discovery of acute myelogenous leukaemia.

Therapy-related leukaemia cutis: a review.

Leukaemia cutis following chemotherapy for a malignancy is a multifactorial process that is dependent on the chemotherapeutic agent used, the dosing regimen, and the cumulative dose as well as potential contributing therapies such as radiation and possibly even hematopoietic support from granulocyte colony stimulating factor. In the right combination and in a patient with a conducive milieu of epigenetic factors, leukaemia can develop as a treatment complication. Leukaemia cutis is the specific infiltration of the skin by leukaemic cells and occurs most commonly when the underlying leukaemia is an acute myeloid leukaemia.

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.

Dystrophic epidermolysis bullosa can be inherited in autosomal dominant and recessive forms, the former usually expressed as a milder phenotype, although mild forms of recessive dystrophic epidermolysis bullosa can occur. We present a patient who was found to be a compound heterozygote, inheriting a dominant mutation from his father and a recessive mutation from his mother, resulting in a clinically severe case of dystrophic epidermolysis bullosa. Mutations in the gene for collagen VII (COL7A1) have been documented in both types of dystrophic epidermolysis bullosa.

Dystrophic calcinosis cutis in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a genetic disorder in which elastic fibers become calcified with prominent cutaneous, ocular, and cardiovascular features. Calcinosis cutis is an acquired disorder of calcium deposition in cutaneous tissues that occurs as one of the following forms: dystrophic, metastatic, idiopathic, and iatrogenic. We report a case of a woman with PXE who developed widespread dystrophic calcinosis cutis in areas affected by PXE.