Giant cell collagenomas associated with Cowden syndrome: A case report.

Storiform collagenoma, also known as sclerotic fibroma, is a relatively rare benign cutaneous tumor consisting of a proliferation of fibroblasts that shows increased production of type I collagen. It may appear as a solitary, sporadic lesion, or, especially when multiple, associated with Cowden syndrome. Giant cell collagenoma has a histopathologic appearance similar to that of storiform collagenoma with the addition of floret-type giant cells. Herein, we report the finding of multiple giant cell collagenomas arising in an individual with Cowden syndrome. In a review of the published literature, this histopathologic variant appears to be rarely observed in association with Cowden syndrome.

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.

Sclerotic fibroma (SF) is a rare subset of dermal fibromas that occurs sporadically or in association with Cowden syndrome (CS). We report a case of a patient with known CS and a solitary lesion on the scalp. Histologic examination demonstrated a well-circumscribed lesion with sclerotic dermis and a whorled collagen pattern, multinucleated giant cells, and dendritic spindle cells. Nuclear atypia or mitotic figures were not noted. The giant cells were negative for Melan-A, SOX-10, EMA, SOX-10, and factor XIIIa. These findings are consistent with a giant cell collagenoma (GCC). Despite possible overlap with SF, GCC has not been associated with CS. This makes our case unique and suggests that GCC should be included in the spectrum of CS-associated cutaneous lesions. The diagnosis of SF may lead to the identification of previously undiagnosed CS; accordingly, GCC, even when present as a solitary lesion, may indicate the need for further work-up and screening for CS.

Isolated collagenoma in an HIV-positive patient on ART: a case report.

BACKGROUND: Collagenomas are rare connective tissue hamartomas composed of dermal collagen. Patients infected with human immunodeficiency virus (HIV) can present with HIV-related lipodystrophy or lipomas. There are no known associations between HIV and collagenomas. CASE PRESENTATION: Here we describe a case of an isolated collagenoma in an HIV patient on ART. The lesion was a seven by four-centimeter subcutaneous nodule with no epidermal changes located on the occipital scalp. This lesion was excised, and histopathology showed thick and randomly arranged collagen bundles, consistent with a collagenoma. CONCLUSION: This case represents an isolated collagenoma presenting in a patient with HIV. It is unclear whether HIV or ART contributed to the development of this collagenoma. Treatment of collagenomas include surgical excision and intralesional corticosteroids. In addition to lipoma or lipodystrophy, it is important to keep collagenoma in the differential diagnosis in a patient presenting with an isolated large indurated subcutaneous nodule.

Pacinian collagenoma: A distinct form of sclerotic fibroma.

Sclerotic fibroma (storiform collagenoma) is a rare benign skin tumor. A solitary tumor, as well as multifocal lesions, are found either sporadically, or associated with Cowden syndrome. The tumor usually presents as clinically asymptomatic, slowly growing papule or nodule on the skin of the head, neck, and upper extremities. Microscopically the lesion is sharply demarcated, composed of hyalinized bands of collagen with low cellularity and a distinctive irregularly whorled or storiform pattern. We describe a case of a unique variant of this tumor in the scalp of a 33-year-old male. The tumor was microscopically composed of concentrically arranged collagen bundles with prevailing type III collagen, which resembled an enlarged Vater-Pacini corpuscle, with low density of CD34-positive and glucose transporter 1-negative spindle shaped cells. The specific microscopic appearance is suggestive of the term "Pacinian collagenoma" for this unique benign tumor.

Progress of an isolated collagenoma during pregnancy.

Collagenomas are connective tissue naevi composed predominantly of collagen. Isolated collagenomas are usually localized to a single body region, acquired, and of rare occurrence. We describe a patient with an isolated collagenoma that showed an increase in size during pregnancy and regressed afterwards.

Isolated corymbose collagenoma responding to intralesional triamcinolone acetonide and hyaluronidase injections.

Collagenomas are connective tissue nevi with circumscribed hamartomatous proliferation of collagen. Due to their benign nature and lack of any simple medical treatment, they are most often left untreated. We present a case of isolated corymbose collagenoma, a distinct morphological variant not described hitherto that was successfully treated with intralesional injections of combination of triamcinolone acetonide and hyaluronidase.

Collagenoma in a child with tuberous sclerosis complex causing carpal tunnel syndrome and thumb overgrowth: case report.

We report on a child with tuberous sclerosis complex who had progressive enlargement of a collagenoma of the right hand. The tumor resulted in median nerve compressive neuropathy and overgrowth of the thumb. Debulking of the tumor along with median nerve decompression was performed with relief of neurological symptoms. No recurrence of the symptoms was observed during the 1-year follow-up after surgery. To the best of our knowledge, this is the first report of a deep collagenoma in any anatomical location.

Coexistence of mucinous nevus and multiple collagenoma with unilateral, dermatomal, and multi segmental distribution.

Connective tissue nevus is a hamartoma composed of excess amounts of one or several components of the dermis, such as collagen, elastin, and proteoglycans. This report introduces a 14-year-old girl with grouped flesh color papules and skin color nodules distributed unilaterally with a dermatomal pattern. These lesions involved more than one segment. Histopathology is the gold standard for diagnosing collagenoma and mucinous nevus. We reported the first case of mucinous nevus with multiple collagenoma that shows the specific clinical features.

Segmental Collagenoma in Tuberous Sclerosis - Think Beyond the Skin: A Rare Case Report.

Collagenomas are connective tissue nevi characterized by an imbalance in the distribution and amount of collagen in the extracellular matrix. Shagreen patch, a collagenoma of tuberous sclerosis, is a classical finding in this genodermatosis (Tuberous Sclerosis). Though the prototypical lesion is a shagreen patch, some individuals manifest only small collagenomas, and these can hinder a diagnosis of tuberous sclerosis and thus mask underlying systemic involvement as was seen in this case we have reported, wherein a 22-year-old male presented with segmental collagenomas over the face and calcified subependymal nodules of the brain on further investigation.

DermatoFibroSarcoma Protuberans: A case report of a complete cure.

DermatoFibroSarcoma Protuberans (DFSP) is a rare recurrent fibrohistiocytic tumor. Given the limitation of available diagnostic modalities in a resource poor setting, diagnosis can be confusing. As most of the tumors recur with time, our case of complete cure was interesting phenomenon observed in our case.

Case Report: Acquired collagenoma on the dorsum of the foot.

Collagenoma is a rare benign skin lesion classified as a hamartomatous proliferation of normal collagen fibres and varying amounts of elastic fibres. They most frequently occur on the arms or trunk and may present as solitary or multiple lesions, as part of a syndrome (such as Cowden Syndrome, Tuberous Sclerosis, or MEN1) or sporadic and of varying sizes. Herein, we report on a case of large acquired collagenomas found in an unusual location on the dorsum of both feet.

Beyond the "3 Ps": A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1.

Multiple endocrine neoplasia type 1 (MEN1), an autosomal-dominantly inherited tumor syndrome, is classically defined by tumors arising from the "3 Ps": Parathyroids, Pituitary, and the endocrine Pancreas. From its earliest descriptions, MEN1 has been associated with other endocrine and non-endocrine neoplastic manifestations. High quality evidence supports a direct association between pathogenic MEN1 variants and neoplasms of the skin (angiofibromas and collagenomas), adipose tissue (lipomas and hibernomas), and smooth muscle (leiomyomas). Although CNS tumors, melanoma, and, most recently, breast cancer have been reported as MEN1 clinical manifestations, the published evidence to date is not yet sufficient to establish causality. Well-designed, multicenter prospective studies will help us to understand better the relationship of these tumors to MEN1, in addition to verifying the true prevalence and penetrance of the well-documented neoplastic associations. Nevertheless, patients affected by MEN1 should be aware of these non-endocrine manifestations, and providers should be encouraged always to think beyond the "3 Ps" when treating an MEN1 patient.

A Case Report of a Sclerotic Fibroma of the Oral Mucosa.

Sclerotic fibroma, also known as storiform collagenoma, is a rare benign tumor that grows on the skin, but it can also appear, less frequently, in the oral mucosa. It can present as part of Cowden syndrome manifestation, especially when multiple lesions are encountered, but it may also appear as a solitary, sporadic lesion in healthy individuals. We describe a patient, diagnosed with Cowden syndrome, who presented with a sclerotic fibroma in the oral mucosa, which is a very uncommon manifestation of Cowden syndrome.

Storiform collagenoma (sclerotic fibroma) of the oral mucosa.

Storiform collagenoma (also called sclerotic fibroma) is uncommon, occurs as a cutaneous fibrous neoplasm, and is particularly rare in mucosal tissue in the head and neck. We describe an unexpected diagnosis in the oral cavity. Histopathological examination showed a proliferation of fibrous tissue, which was well circumscribed but unencapsulated, with thick laminated bundles of eosinophilic collagen that exhibited a storiform or "whorled" pattern. First described by Weary et al in 1972, storiform collagenoma is a marker for Cowden's disease or PTEN hamartoma tumour syndrome. Identification of other synchronous lesions should prompt chromosomal analysis for a mutation in the PTEN gene on chromosome 10q23.

A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome.

Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype-phenotype correlation in BOS.

Dermoscopy of a solitary storiform collagenoma.

The dermoscopic features of solitary storiform collagenomas (sclerotic fibromas) have not been described previously, as these are rare cutaneous soft tissue tumors. The presence of multiple lesions is considered a marker of Cowden syndrome. They can also present as single firm cutaneous nodules. We present an unusual single nodule with distinct dermoscopic and histologic features.

Satisfactory treatment of a large connective tissue nevus with intralesional steroid injection.

Collagenoma is a type of connective tissue nevi, a rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas present as multiple or solitary, hereditary or sporadic, asymptomatic, skin-colored papules, nodules, and plaques with variable sizes, and are usually located on the trunk, arm, and back. Here, we report on a 14-year-old boy who presented with an isolated giant collagenoma of the frontal area that dramatically responded to intralesional triamcinolone acetonide.

Solitary Collagenoma of the Labium Majus: A Rare Occurrence.

Collagenomas are connective tissue nevi representing hamartomatous proliferation of collagen. Isolated collagenomas are of rare occurrence. They are sporadically acquired, and lesions are often localized to a single body region. We described a case of solitary collagenoma in a 23-year-old woman, confirmed on histopathology and special stains for collagen, involving an uncommon site such as labium majus. A high index of suspicion for a skin-colored circumscribed solitary growth and a low threshold for biopsy often help to arrive at a final diagnosis.