1. Angioedema
The absence of co-existent urticaria suggests which diagnosis?
d) Hereditary angioedema types 1 or 2
Hereditary angioedema types 1 and 2 as well as angioedema associated with acquired C1 esterase inhibitor deficiency are typically not associated with urticaria. The other forms of angioedema listed may or may not be associated with urticaria.
References
Bork K. Angioedema. Immunol Allergy Clin North Am. 2014;34(1):23-31.
Parish LC. Hereditary angioedema: diagnosis and management-a perspective for the dermatologist. J Am Acad Dermatol. 2011;65(4):843-850.
2. Blue rubber bleb nevus syndrome
These soft, compressible nodules are associated with GI bleeding. The most likely diagnosis is:
d) Blue rubber bleb nevus syndrome
In the autosomal dominant blue rubber bleb nevus syndrome, the lesions are mostly located on the upper part of the body and in the GI tract. Multiple glomangiomas, which appear as grouped, often tender bluish nodules, are also inherited in an autosomal dominant pattern. In Maffucci’s syndrome, nodular enchondromas affect the bones of the hands and feet. Marked phlebectasia and hemangiomas may be found on the involved limb, and angiosarcoma can develop. Klippel-Trenaunay-Weber syndrome is characterized by limb hemihypertrophy, port wine stains, hemangiomas and venous malformations. Pseudo-Kaposi’s sarcoma can occur on the hypertrophic limb. In contrast to these 4 entities, Masson’s pseudoangiosarcoma (intravascular papillary endothelial hyperplasia) is an acquired condition. It arises in association with other benign vascular proliferations such as a cavernous hemangioma or venous lake.
Reference
Moser CM, Hamsch C. Successful treatment of cutaneous venous malformations in a patient with blue rubber bleb naevus syndrome by Nd: YAG laser. Br J Dermatol. 2012; 166(5):1143-1145.
3. Neonatal lupus erythematosus (complete A-V block)
An infant with this electrocardiogram and a polycyclic cutaneous eruption was born to a mother who tested positive for Ro/La. A similar eruption without systemic manifestations has been reported in association with which other antibody?
a) U1RNP
The neonatal lupus erythematosus (LE) syndrome associated with U1RNP antibodies has similar manifestations to the same syndrome associated with Ro/La antibodies, except systemic manifestations are absent. Furthermore, there is no direct association with the HLA-DR3 phenotype as there is when the disorder is associated with Ro/La antibodies. Sm and Mo antibodies are associated with LE. Jo-1 antibodies are associated with adult polymyositis, especially patients with interstitial lung disease. Mi-2 antibodies have been detected in some patients with dermatomyositis.
References
Izmirly PM, Buyon JP, Saxena A. Neonatal lupus: advances in understanding pathogensis and identifying treatments of cardiac disease. Curr Opin Rheumatol. 2012;24(5):466-472.
Silverman E, Jaeggi E. Non-cardiac manifestations of neonatal lupus erythematosus. Scan J Immunol. 2012;72(3):223-225.
4. Gingival hyperplasia
The immunosuppressive drug most often associated with this side effect is:
a) Cyclosporine
All of the listed drugs, as well as estrogen and progesterone, may be associated with gingival hyperplasia. However, only cyclosporine is immunosuppressive.
References
Sanz M. Current use of calcium channel blockers (CCBs) is associated with an increased risk of gingival hyperplasia. J Evid Based Dent Pract. 2012;12(3 suppl):147-148.
Cornacchio AL, Burneo JG, Aragon CE. The effects of antiepileptic drugs on oral health. J Can Dent Assoc. 2011;77:b140.
Bruce Thiers, MD, FAAD, is a professor with the Department of Dermatology and Dermatologic Surgery at the Medical University of South Carolina in Charleston, SC.
