Case 03

Case contributed by: Dr. Maryam Hameed, MBBS, FRCPath (UK on GMC specialist register) MIAC
CONSULTANT HISTOPATHOLOGIST AND CYTOPATHOLOGIST
Shaukat Khanum Memorial Cancer Hospital And Research Centre, Lahore

Case Description

A few details

History:

A 35-year-old woman presented to the dermatology clinic with gradually progressive yellowish papules over the sides of her neck and both axillae for the past 8 years. She had noticed that the skin in these areas had become soft, lax, and wrinkled, but the lesions were neither painful nor pruritic. Over the preceding year, she also reported intermittent blurring of vision and difficulty reading fine print. There was no history of trauma, diabetes, or chronic inflammatory disease. Her father had similar skin changes and experienced vision loss in his fifth decade. On examination, Multiple 2–5 mm yellow-to-cream-colored papules coalescing into plaques on the lateral neck, axillae, and antecubital fossae. The affected skin had a “plucked chicken” (cobblestone) appearance with reduced elasticity.

Case 03

Case Description

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Elastin

Trichrome

Which of the following genes is most commonly mutated in this condition?