We report a rare case of Blau syndrome in a 1-year-old boy. The patient presented with characteristic facial manifestations, notably skin lesions exhibiting atrophoderma vermiculates-like appearance; ocular and articular symptoms were notably absent at presentation. Histopathological examination confirmed non-caseating granulomatous inflammatory changes. Whole-genome sequencing (WGS) identified a heterozygous pathogenic mutation (p. Arg307Trp) in the nucleotide oligomerization domain 2 (NOD2) gene. Treatment with oral prednisone combined with topical vitamin E application resulted in a significant improvement of his skin lesions.

We report a 70-year-old man with a long-standing history of eruptive syringomas, including scattered plaque-type syringomas that raised clinical concern for basal cell carcinoma. A biopsy of a plaque-type lesion on the left clavicle revealed a syringoma with superficial follicular infundibular cysts resembling those of microcystic adnexal carcinoma (MAC). The lesion also exhibited cords and trabeculae streaming from the epidermis, and solid nests of variable sizes extending to the deep dermis, reminiscent of the solid variant of MAC. Excision revealed a fairly circumscribed tumor within a sclerotic stroma that did not invade nerve or infiltrate fat, supporting a diagnosis of plaque-type syringoma. Additional lesions have since been biopsied, revealing similar findings, but none of them have been re-excised nor have they recurred. The patient had facial milia, but was not thought to have Nicolau-Balus syndrome given the absence of atrophoderma vermiculata and a lack of a pertinent family history. Herein, we discuss the histomorphologic diversity of syringomas and helpful findings that distinguish them from carcinoma. An unequivocal distinction between syringoma and MAC is not always feasible on a partial sample, but awareness of rare syringoma variants can sometimes prevent unnecessary surgery.

Keratosis pilaris is characterized by small bumps around hair follicles. Keratosis pilaris simplex results in gray and keratotic papules mainly on the arms, thighs and buttocks. It mainly affects women. Keratosis pilaris rubra often results in keratosis pilaris atrophicans. Common variants of keratosis pilaris include: ulerythema ophryogenes, atrophoderma vermiculata, Siemens alopecia. Keratosis pilaris is a genetic disorder and can occur in association with other hereditary diseases such as Noonan syndrome or vitamin disorders. Treatment is mainly based on emollients and keratolytics, but they have only a suspensive effect. We report the case of a 30 year old woman with a personal and family history of atopy, presenting with diffuse keratotic papules on the trunk. The remainder of the physical examination revealed no genetic abnormality. Treatment was based on emollients and keratolytics with slight improvement.