A report describes a case of a 44-year-old female who complained of numerous yellowish papules on her face for 15 years. The lesions gradually increased in number and extended to the neck and chest wall. Lesions on the face advanced to thick plaques with deep furrows, particularly on the forehead and appeared as leonine facies. No other skin lesions were present. No medical history and consanguineous marriage in her family were documented. She reported similar lesions in her first and second younger sisters but were less severe. 

Numerous yellowish dome-shaped papules with central umbilication, confluent to thick plaques with deep furrows, except in periorbital and perioral areas were noted on physical examination. Hair, nails and teeth were found to be normal. Dermoscopic examination revealed multiple yellow-white globules and thin nonarborizing blood vessels. A sample for skin biopsy was obtained from the face, which showed multiple enlarged mature sebaceous glands in the dermis. Immunohistochemistry staining for MutS protein homolog 2 (MSH-2) and MutL homolog 1 colon cancer nonpolyposis type 2 (MLH-1) showed no loss of nuclear staining. The colonoscopic examination was found to be normal. Thus, she was diagnosed with diffuse familial sebaceous hyperplasia. Isotretinoin 20 mg orally once daily was prescribed to her, which showed satisfactory clinical improvement after 12 weeks of treatment. On lowering isotretinoin dosage, the lesions recurred. So, she continued the same dosage.

Source: Trakoolwannachai P, Kootiratrakarn T. Familial sebaceous hyperplasia: A case report. Thai J Dermatol. 2016;32:255-61.