Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome

Abstract

Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome.

Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

“…This finding is not present in other types of collagenomas (sporadic or hereditary) in the literature and in our personal experience [ 30 , 31 , 32 ] (i.e., familial cutaneous collagenomas [ 33 , 34 ], Cowden syndrome [ 35 , 36 ], Proteus syndrome, Bushkle-Ollendorff syndrome [ 37 , 38 ], multiple endocrine neoplasia type 1 (NEM1) [ 39 ]). However, interesting way, this pattern is present in sporadic angiofibromas of the face [ 12 ].…”

Giant cell collagenoma in a patient with Cowden syndrome: A rare case report and literature review with a focus on the spectrum of sclerotic fibroma and giant cell collagenoma

“…This case suggests that the spectrum of CS-associated cutaneous lesions needs to be expanded to include GCC/PSF. As in previous case reports, even the solitary variant of SF has been a valuable cutaneous clue for the identification of previously undiagnosed CS, 7,10 adding GCC/PSF to the spectrum of CS-associated cutaneous T A B L E 1 (Continued) Reference Garcia et al 12 Martín-L opez et al 13 Chen et al 14 Brito et al 15 Rudolph et al 16 Ramos et al 17…”

“…Early detection and diagnosis are imperative for adequate follow-up and screening for associated neoplasms. [5][6][7] Management of patients with CS warrants a multidisciplinary approach, and further work-up should be based on symptoms or abnormalities found on thorough physical examination. 2,8 SF is a rare benign tumor of the skin that can occur both sporadically or in association with CS.…”

“…Histologically, sporadic and CS-associated SFs are indistinguishable as both are characterized by well-circumscribed hyalinized and hypocellular dermal nodules composed of collagen arranged in a whorled or plywood-like pattern and separated by clefts with scattered spindle cells. 5,7,10 Immunohistochemical staining demonstrates diffuse CD34 and CD99 staining of spindle cells with focal to negative factor XIIIa staining. 7,11 In 1998, GCC was first described by Rudolph et al, and was considered to be a cellular variant of SF (Table 1).…”

“…5,7,10 Immunohistochemical staining demonstrates diffuse CD34 and CD99 staining of spindle cells with focal to negative factor XIIIa staining. 7,11 In 1998, GCC was first described by Rudolph et al, and was considered to be a cellular variant of SF (Table 1). The lesions were described as having hyalinized collagen bundles in a storiform pattern with fibroblast-like cells and multinucleate giant cells.…”