Eruptive syringoma in a case of mucopolysaccharidosis type IIIB-Sanfilippo B

Abstract

Eruptive syringoma is a rare clinical variant of syringomas and is commonly described in the setting of Down's syndrome. Hereby, we report the case of a 22-year-old female presenting with multiple, small, skin-yellow-hyperpigmented, round-ovoid papules over the face, forearms, hands, lower abdomen, and thighs associated with facial dysmorphism, hepatomegaly, macular dystrophy, and behavioral disturbances. Histopathology of the cutaneous lesion revealed ductal epithelial cells forming tadpole structures suggestive of syringomas and whole exome sequencing confirmed the underlying genetic defect: mucopolysaccharidosis Type IIIB-Sanfillipo B syndrome. Hence, we present this rare case of eruptive syringomas associated with mucopolysaccharidosis.

Keywords

• n-acetyl-alpha -glucosaminidase(naglu)
• mucopolysaccharidoses
• syringomas