ANSWER: MAD PORES- Test Question

The correct answer is E. Buschke Ollendorf

Correct Answer Explanation

The patient has elastosis perforans serpiginosa and is associated with medications and certain systemic conditions. It is associated with the medicine penicillamine, Marfan’s syndrome, Down’s, osteogenesis imperfecta, and Ehler’s Danlos syndrome, acrogeria, cutis laxa, pxe and progeria, rothmund thompson and scleroderma. It is often self-limiting.

Incorrect Answer Explanation

Buschke–Ollendorff syndrome refers to a rare, hereditary disorder affected the connective tissues. It is also known as dermatofibrosis lenticularis disseminata, dermato-osteopoikilosis, and familial cutaneous collagenoma.

Buschke–Ollendorff syndrome occurs in 1 in every 20,000 live births worldwide. There appears to be no racial, sexual, or geographical predilection. Lesions are present at birth.

Buschke–Ollendorff syndrome is a genetic disease. The underlying cause of Buschke–Ollendorff syndrome is mutation of the LEMD3 gene, which provides instructions for the making of proteins that support connective tissues.

    • Inheritance is in an autosomal recessive pattern (a faulty gene must be inherited from both parents).
    • It may result from abnormal regulation of the extracellular matrix, which results in a build-up of elastin in the dermal layer of skin.

Buschke–Ollendorff syndrome is characterized by small connective tissue nevi

    • The torso and extremities are most often affected.
    • The naevi are blastomas (made from elastin fibers), collagenomas (made from collagen fibers), or fibromas (made from fibrous tissue).
    • They are slightly elevated, yellowish papules, nodules, or plaques.
    • These lesions are painless and do not itch.

Non-cutaneous but significant features of Buschke–Ollendorff syndrome include:

    • Osteopoikilosis (areas of increased bone density on the long bones of the limbs)
    • Nasolacrimal (tear) duct obstruction
    • Amblyopia (lazy eye) or strabismus (squint)
    • Benign lymphoid hyperplasia (growth of lymph tissue)
    • Short stature
    • Diabetes mellitus
    • Aortic stenosis (restricted heart valve)
    • Hearing impairment/deafness.

References

Genetics Home Reference, US National Library of Medicine. Buschke-Ollendorff syndrome. 2013. Available at: https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome (accessed July 2016).

Genetic Testing Registry. Dermatofibrosis lenticularis disseminata. 2014. Available at: http://www.ncbi.nlm.nih.gov/gtr/conditions/C0265514 (accessed July 2016).

Matusiak L; Medscape. Dermatofibrosis (Buschke-Ollendorff syndrome). April 2016. Available at: http://emedicine.medscape.com/article/1117654-overview (accessed July 2016).