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Background The spectrum of clinical findings associated with PTEN tumor suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and Bannayan-Riley-Ruvalcaba syndromes. Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed. Observations We describe a 5-year-old boy with macrocephaly, prominent corneal nerves, and progressive development of multiple painful, dome-shaped, translucent pink to skin-colored papules on the vermilion portion of the upper lip, fingers, palms, and shins. Histologic evaluation demonstrated dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath, findings diagnostic of a nonencapsulated neuroma. Genetic analysis revealed a novel heterozygous germline nonsense mutation in PTEN , predicted to result in a truncated PTEN protein. To our knowledge, this represents the first report of multiple neuromas as the sole mucocutaneous manifestation of PHTS. Conclusions This article highlights neuromas as a cutaneous sign of PHTS, drawing attention to manifestations of PHTS in neural tissues of the skin, eye, gastrointestinal tract, and brain. Along with multiple endocrine neoplasia type 2B, PHTS should be considered in the differential diagnosis of multiple mucocutaneous neuromas, particularly those involving extrafacial sites.

A 3-year-old girl presented with a 6-month history of multiple, light-pink, flat-topped papules over the dorsal aspects of the metacarpophalangeal and interphalangeal joints of the hands and feet. Nailfold telangiectases, ragged cuticles, and a heliotrope color of the upper eyelids were also evident, but there was no clinical evidence of muscle weakness and levels of muscle enzymes were normal. A biopsy specimen from one of the papules showed a vacuolar interface dermatitis consistent with a diagnosis of dermatomyositis. This report draws attention to juvenile amyopathic dermatomyositis, which is an uncommon subtype of dermatomyositis with an excellent prognosis.

We compared 4 breast cylindromas with 50 dermal cylindromas and 8 adenoid cystic breast carcinomas. Except for a modest increase in the number of eccrine ducts and reactive Langerhans cells in dermal cylindromas, breast and dermal cylindromas showed identical histologic and immunohistochemical features. Both were characterized by epithelial islands containing central basaloid cells and peripheral myoepithelial cells surrounded by a thickened, continuous, periodic acid–Schiff–positive basement membrane that was immunoreactive for collagen IV. Clusters of sebaceous cells and a few eccrine ducts are described in breast cylindromas. Cytokeratin 7 labeled predominantly the central basaloid cells, and smooth muscle actin stained peripheral myoepithelial cells in breast and dermal cylindromas. Eccrine ducts were highlighted by epithelial membrane antigen and carcinoembryonic antigen. S-100 protein and CD1a showed a variable number of dendritic Langerhans cells. Cylindromas of the breast and skin did not express cytokeratin 20, gross cystic disease fluid protein 15, or estrogen or progesterone receptor. Breast cylindroma might be confused with the solid variant of adenoid cystic carcinoma, especially in needle core biopsy specimens, because they share nodular and trabecular patterns, basaloid cells, myoepithelial cells, eccrine ducts, and hyaline globules of basement membrane material. However, adenoid cystic carcinoma displays an infiltrative growth pattern, cytologic atypia, and mitotic figures and lacks the continuous, thickened basement membrane.