It is Christmas time and you happen to be assigned several patients whose disorders
are somehow related to Christmas.
DIAGNOSES: A = Pityriasis rosea. B = Christmas disease (Hemophilia B, Factor
IX deficiency). C. Chimney sweepers disease (squamous cell carcinoma of the scrotum).
D. Christmas tree allergy syndrome
A. Rash B. Acute joint pain
A. Herald Patch & Chrismas tree distribution of the rash in a patient with Pityriasis rosea (left image). Bleeding into joints is charateristic of patients with Hemophilia B (Factor IX deficiency) (right image), This disorder is treated with periodic infusions of recombinant Factor IX. In addition. there are on-going trials of gene therapies for hemophilia patients using Adeno-associated or Lentiviral-associated vectors carried by the Factor IX or X genes but immunogenicity and hepatotoxicity are notable side effects of these therapies. There are also trials using CRISPR/Cas9 or Zinc fingrer nucleases to insert guide RNAs capable of editing (correcting) the genetic defects.
C. Chimney disease? D. Resapiratory symptoms?
In the 18th and early 19th centuries chimney sweepers (typically young boys) were noted to be at increase risk of developing scrotal squamous cell carcinomas; it is not known whether Sanata Clause is at a similar risk (left image). Allergic reactions to Christmas tree pollens, turpines, waxes and/or molds are well described (Christmas tree allergy syndrome) (right image).