| Introduction: |
| A 21-year old woman was referred for evaluation and treatment of "sagging skin" that progressed for over a year. |
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| History: |
| She initially attributed the development of loose skin to an intentional 30 pound weight loss. However, she was distressed by the progression of the skin changes.
She was healthy and denied chronic medical problems, prior surgery, allergies or family history of skin disease. Her only medication was Depo-Provera for birth control. She took an occasional smoke and alcohol. She also complained of occasional chest pain, leg cramps, depression and slowly progressive vision and hearing loss. |
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| Clinical
Presentation: |
| Although she looked well, she had diffusesly loose wrinlkled skin
There were multiple 2-3 mm yellow papules coalescing into plaques on the back of her neck, axillae, antecubital fossae, abdomen, groin, and thighs. These papules were frequently overlying redundant, lax, soft skin folds. Similar papules involved her mucous membranes particularly the inner aspect of her lower lip.
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| Pathology: |
| A skin biopsy taken from her neck showed a broad band of intensely eosinophilic granular material in the mid and lower dermis. Special stain for elastin (von Kossa) demonstrated fragmented, thickened, irregular, and disorganizeelastic fibers. |
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| Question
1: |
| What is the most likely diagnosis and differential diagnosis? |
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| Question
2: |
| What is the most common mode of inheritance? |
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| Question
3: |
| What other organ systems are affected by this disease and how (be specific)? |
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| Question
4: |
| What other specialists should be involved in her care? |
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| Question
5: |
| Describe management concerns and prognosis? |
