Rhabdomyomatous Mesenchymal Hamartoma: Report of 4 Cases With Histochemical and Immunohistochemical Findings and Emphasis on Potential Pitfalls.

ABSTRACT: Rhabdomyomatous mesenchymal hamartoma (RMH) typically presents as a congenital midline head and neck cutaneous polyp in infants. Perianal and mucocutaneous lesions have been reported, and recently, acquired adult-onset variants have been proposed. This makes the true prevalence, etiopathogenesis, and clinicopathologic distribution and classification of RMHs in children compared with those in adults uncertain. We performed a retrospective review to highlight the salient histopathologic, histochemical, and immunohistochemical features in RMHs and to emphasize their specific clinicopathologic criteria to avoid diagnostic pitfalls. We found 4 (0.3%) infants [2 female infants and 2 male infants, average age: 4 months] with mental, nasal, lingual, and perianal midline RMHs (average size: 1.0 cm) of 1303 patients with cutaneous polypoid lesions. Three were isolated, and 1 was associated with Goldenhar syndrome. The cutaneous polyps demonstrated intermixed skeletal muscle, adipose, and fibrocollagenous core stroma that extended into the dermis and around the dermal appendages. The lingual lesion demonstrated skeletal muscle and fibrocollagenous stroma with prominent nerve bundles and little adipose tissue. All showed interstitial loose mesenchyme. Masson trichome demarcated the triphasic stromal components. Alcian blue demonstrated the loose myxoid mesenchyme. Elastic van Gieson did not show elastic fibers. Desmin demonstrated the skeletal muscle bundles, S100 highlighted the adipose tissue lobules and the nerve bundles, and CD34 displayed the mesenchymal stroma. Ki67 showed a low proliferation index in the loose mesenchyme. Smooth muscle actin did not reveal smooth muscle bundles, but with CD31, they highlighted the thick blood vessels. CD117 revealed prominent mast cells. From our retrospective review series, 4 cases that originally diagnosed as RMHs were excluded. Likewise, we found some examples of the reported cases in the English literature that might have been mistaken for RMHs. This is because they did not fulfill the diagnostic clinicopathologic criteria. RMH constitutes a rare entity with specific clinicopathologic features. Most lesions are isolated. Some are associated with congenital anomalies and syndromes. Strict clinicopathologic diagnostic criteria should be applied to avoid mislabeling look-alike lesions for RMHs.

Concomitant Tuberculous and Lepromatous Lymphadenitis: Clues and Pitfalls of Leprosy Concealed by Tuberculosis in Lymph Nodes.

Comorbidities between tuberculosis and leprosy are expected in endemic regions. Pulmonary tuberculosis and cutaneous leprosy are the most prevalent coinfections. One of the common manifestations of tuberculosis is generalized lymphadenopathy. In contrast, leprosy is clinically less suspected to manifest as a generalized lymphadenopathy, and it is pathologically unusual to diagnose leprosy primarily in lymph nodes. Concomitant tuberculous and lepromatous lymphadenitis are unprecedented and clinically unexpected, particularly in nonendemic countries. This imposes diagnostic challenges. We report concurrent tuberculosis and leprosy that were diagnosed in a lymph node in 45-year-old man with generalized lymphadenopathy. The effaced lymph node was predominantly replaced by caseating epithelioid granulomas alternating with foamy histiocytes. Ziehl-Neelsen stain showed positive acid-fast bacilli in the necrotizing granulomas only. The initial differential diagnosis of the nodal foamy macrophages included fungal infections, leishmaniasis, and Whipple disease, for which the special stains were negative. The vacuolated macrophages were disregarded as nonspecific lipogranuloma. A modified acid-fast stain was not considered. The histopathologic clues to nodal lepromatous leprosy included the presence of intracytoplasmic globi, intermixed microabscesses, and lymphoplasmacytic infiltrate and involved pericapsular nerves. Wade-Fite stain was subsequently performed. It revealed numerous lepra bacilli within the foamy histiocytes. The final diagnosis was concurrent disseminated tuberculosis and leprosy. Nodal lepromatous leprosy could be missed when compounded by concurrent nodal tuberculosis, particularly in developed countries. The clinicians and pathologists should have a high index of suspicion, particularly in patients from or with history of travel from endemic regions. Certain histopathologic features are helpful clues to avoid pitfalls.

Primary peritoneal low-grade serous carcinoma detected in cervical smear: Pitfalls mitigated by clinicocytopathologic clues and cellblock immunocytochemistry.

Pap smears play a role in detecting extrauterine serous tumours in asymptomatic women. Certain cytopathologic and histopathologic findings combined with relevant clinical and radiologic findings indicate the possibility of primary peritoneal serous tumours. Cellblock immunohistochemistry is a valuable confirmatory diagnostic tool.