A 69-year-old gentleman reported progressive skin-colored eruptions on his face and upper chest since the age of 40. He was diagnosed with end stage renal failure 5 years ago but denies personal or family history of malignancies. There was no history of immunosuppressive drugs usage. He was the seventh among 10 siblings, of which 3 (2 males and 1 female) had similar skin disorder after the age of 35. He had six children of which two, a son and a daughter reported similar skin changes. Physical examination showed diffuse skin-colored, greasy, umblicated papules on his cheeks, forehead, chin, and neck. No comedones were present. These papules coalesced to form plaques, giving rise to leonine appearance [Figures 1 and 2]. His periorbital, perinasal, perioral and periauricular areas were spared. There was no telangiectasia associated with rosacea noted.
What is your diagnosis?
Presenile diffuse familial sebaceous hyperplasia.
Skin biopsy of a lesion on his right cheek revealed dilated pilosebaceous ducts with keratin plugs, consistent with sebaceous hyperplasia [Figure 2]. There was absence of granulomatous inflammation, mucin, fibroblast proliferation and fibrosis to suggest the other differential diagnosis. We diagnosed the patient as presenile diffuse familial sebaceous hyperplasia, as he fulfilled the Dupre criteria.1 In addition, the autosomal dominant inheritance pattern, along with a negative history of exposure to immunosuppressants and onset of symptoms prior to his end--stage renal failure also supported this diagnosis.
Presenile diffuse familial sebaceous hyperplasia is a benign hereditary skin disorder which typically appears during adolescence and slowly progresses thereafter.2 The diffuse expanse of the sebaceous glands lead to irregular facial surfaces and excessive sebum production.3 In view of the extensive involvement in this case, isotretinoin was the preferred treatment of choice. It works by reducing the sebaceous gland size, diminishing proliferation of basal sebocytes, suppressing the production of sebum, and inhibits the differentiation of the sebocytes in vivo.4
Cauterization and excision may result in significant scarring and disfigurement. Lasers and photodynamic therapy are costly options, and are not available in our center. After 3 months of isotretinoin 20 mg daily, our patient showed significant improvement.