Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.

An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB.

Isotretinoin for acne and rosacea.

Isotretinoin is a revolutionary medicine for the treatment of acne vulgaris, with new studies showing evidence of excellent clinical outcomes in treating rosacea. After 30 years of clinical experience, new insights are being gained into dosing strategies, recurrence prevention, and dose-related side effects. Previous controversial associations with inflammatory bowel diseases and mood disorders have hampered the use of this medication in some clinical situations, with new evidence disproving these claims.

Systemic mastocytosis complicating pregnancy.

Background: Systemic mastocytosis is a rare medical disorder in which an increased number of mast cells can precipitate immediate hypersensitivity reactions, leading to hypotension, shock, and death. It is characterized by persistent elevated serum tryptase levels. The few published reports on pregnancy complicated by systemic mastocytosis indicate favorable maternal and fetal outcomes in gravidas known to have systemic mastocytosis.