Familial Dermal Eccrine Cylindromatosis with Emphasis on Histology and Genetic Mapping
A 32-year-old woman presented to us with multiple asymptomatic swellings over the scalp, face, neck, legs, and chest for the past 12 years with a progressive increase in size and number over the years. There was a history of similar lesions in her family including her mother, aunt, cousins, grandfather, and her elder child [].\nOn examination, multiple, rounded, smooth surfaced, firm, non-tender, skin colored to reddish papules and nodules of varying sizes were seen on scalp and face []. Lesion was also extending to nose, arms, and legs []. Examination of mucosa, nails, and hair showed no abnormalities.\nAll the laboratory investigations were within the normal range. Computed tomography brain showed multiple lobulated masses over scalp and face, which could represent neoplastic or inflammatory pathology []. Biopsy was suggested for further evaluation. Gene mapping was done. The susceptibility locus has been mapped to chromosome 16q12-q13.\nFine needle aspiration was performed and smears were stained with May-Grünwald stain (MGG). The most distinctive feature in the aspirated material was the homogenous hyaline globules stained purple with MGG. These globules were surrounded by cohesive benign epithelial cells with dark uniform nuclei. The background was clean and no mitosis was noticed.\nSurgical excision along with the skin grafting was performed to improve the facial appearance of the patient. Specimen was submitted in the histopathology section. On gross examination, the lesion was nodular with irregular surface []. Cut surface was solid and homogenously grey white.\nHistopathologically, the lesion consisted of well-circumscribed islands of epithelial cells surrounded by a dense membrane material, and focally containing hyaline globules. Islands of epithelial cells fit together like pieces of “jig-saw” puzzle. Two distinct cell populations were seen; smaller peripheral basaloid cells in palisade arrangement and larger central cells with vesicular chromatin [].