Follicular Atrophoderma, Perioral Pigmented, With Milia And Epidermoid Cysts

Based on personal examination or history of 11 members of a Japanese family, Inoue et al. (1998) described a distinctive disorder characterized by facial, especially perioral, pigmented follicular atrophoderma, with numerous milia and epidermoid cysts. They suggested that the diagnosis could be made at a glance because of the perioral cutaneous manifestations. Histopathologic examination of the follicular atrophoderma showed proliferation of basaloid cells continuous with the epidermis and coarse collagen fibers, with a decreased density of elastic fibers around the basaloid cells. In 2 of the 8 individuals who were examined, generalized hypohidrosis was also present. Inoue et al. (1998) pictured the pigmentation and multiple depressed pits in the perioral area. In none of the patients was there a history of basal cell carcinoma or tendency to hair loss. The onset of symptoms was thought to be about 20 years, but 2 individuals in the most recent generation also showed follicular atrophoderma and epidermoid cysts that they had thought represented acne scars on the forehead and perioral region. Affected individuals occurred in 4 generations, with 1 instance of male-to-male transmission. Autosomal dominant inheritance was suggested by the authors. The patients' manifestations resembled those of Bazex-Dupre-Christol syndrome (BZX; 301845), but BZX is an X-linked disorder, has a different distribution of follicular atrophoderma, and has basal cell carcinoma and hypotrichosis as features.