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Anais Brasileiros de Dermatologia 2015Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or... (Review)
Review
Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.
Topics: Acanthoma; Adenoma; Diagnosis, Differential; Female; Follicular Cyst; Hair Diseases; Hair Follicle; Humans; Male; Neoplasms, Basal Cell; Skin Neoplasms; Syndrome
PubMed: 26734858
DOI: 10.1590/abd1806-4841.20154114 -
Frontiers in Medicine 2021Cowden syndrome (CS) is an autosomal dominant condition caused by mutations in the phosphatase and tensin homolog () gene, and is characterized by multiple hamartomas... (Review)
Review
Cowden syndrome (CS) is an autosomal dominant condition caused by mutations in the phosphatase and tensin homolog () gene, and is characterized by multiple hamartomas and a predisposition to malignant tumors. Characteristic skin lesions include trichilemmomas, acral keratosis, mucocutaneous neuromas, oral papillomas, and penile macules, and are often the first clues to the underlying diagnosis. Here, we discuss the mucocutaneous manifestations of CS, differential diagnoses of genetic causes of each cutaneous finding, genetic analyses for patients with skin manifestations, management of patients with CS, and potential new targeted therapies for CS.
PubMed: 34179044
DOI: 10.3389/fmed.2021.658842 -
BMJ Open Ophthalmology 2020Trichilemmoma is a benign tumour derived from the outer root sheath of hair follicles. Trichilemmoma can be associated with basal cell carcinoma (BCC), either as a...
OBJECTIVE
Trichilemmoma is a benign tumour derived from the outer root sheath of hair follicles. Trichilemmoma can be associated with basal cell carcinoma (BCC), either as a collision lesion or from malignant transformation. This study evaluates malignancy associated with eyelid trichilemmoma and principles of treatment.
METHODS AND ANALYSIS
Retrospective study involving biopsy-proven eyelid trichilemmoma cases over 14 years encountered at a tertiary referral centre. Presenting features, differential diagnosis, type and number of operations required and histopathological features including coexisting BCC were analysed.
RESULTS
We identified 36 cases with an average age of 66 years. The clinical differential diagnoses were mainly BCC (44%), papilloma (36%) and squamous cell carcinoma (SCC) (3%). Three patients (8%) had trichilemmoma with associated BCC. Of the 19 cases (53%) of trichilemmomas without BCC with equivocal surgical margins, seven patients (19%) opted for further excision while 12 patients (33%) opted for observation and were discharged. A patient re-presented two years later with invasive BCC. Overall, 11% of our biopsy-proven eyelid trichilemmoma cases were associated with BCC.
CONCLUSION
Patients should be informed that a proportion of incompletely excised eyelid trichilemmomas may conceal underlying BCC. Therefore, further surgery to achieve clear surgical margins should be offered. Patients who opt for observation should be offered 6-monthly follow-up for three to five years. Alternatively, they can be discharged with advice to report any recurrence of lumps, skin changes or loss of lashes at the site of previous lesion.
PubMed: 32617416
DOI: 10.1136/bmjophth-2020-000513 -
Journal of Medical Genetics Feb 1995Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with... (Review)
Review
Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas.
Topics: Diagnosis, Differential; Hamartoma Syndrome, Multiple; Humans
PubMed: 7760320
DOI: 10.1136/jmg.32.2.117 -
International Journal of Clinical and... 2015Trichilemmoma is a rare type of benign cutaneous neoplasm, which derives from outer sheath of hair follicle. It barely develops malignant progression and has rarely been... (Review)
Review
Trichilemmoma is a rare type of benign cutaneous neoplasm, which derives from outer sheath of hair follicle. It barely develops malignant progression and has rarely been reported in anal cancer. In this article, we report a case of a 73-year-old woman who presented to the outer-patient department with complaints of a ruptured and longstanding anal phyma. All the appearances were atypical. Blood routine examination showed that neutrophilic granulocyte percentage was elevated and suggest it was a simple inflammation response. No evidence of malignancy was detected upon the laboratory examinations. Then we performed an abscess incision drainage for the patient. A few days later, the biopsy pathological report suggested the specimen is a malignant proliferative trichilemmoma. We decided to perform a wide local excision instead of an extended radical operation in order to preserve anus. After the surgery, we chose not to give chemoradio-treatment for fear of side effects and complications. Careful follow-up indicates that peri-anal malignant proliferative trichilemmoma may have a good prognosis and our treatment is a good choice for the patients with this tumor. Because of the low occurrence rate of anal cancer, especially malignant trichilemmoma, any clinical manifestation and experience are valuable. On one hand, our case may help to take the consideration of the diagnosis of malignant trichilemmoma in case of longtime-suffered peri-anal mass, on the other hand it propose a different treatment method from other anal cancers for clinical doctors.
Topics: Aged; Anus Neoplasms; Biopsy; Cell Proliferation; Drainage; Female; Hair Diseases; Hair Follicle; Humans; Magnetic Resonance Imaging; Skin Neoplasms; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 26045866
DOI: No ID Found -
Dermatopathology (Basel, Switzerland) Aug 2020Degos and Civatte first described clear cell acanthoma (CCA) in 1962 and later in a review article found that, in most instances, the lesion was a solitary red-brown... (Review)
Review
Degos and Civatte first described clear cell acanthoma (CCA) in 1962 and later in a review article found that, in most instances, the lesion was a solitary red-brown dome-shaped papule that involved the distal lower extremity. The first morphologic variant of CCA was reported as a "giant form of the acanthoma of Degos" which measured 45 × 40 mm, about twice the size of the largest CCA documented earlier. Since then, many variants of CCA have been described, including polypoid, pigmented and atypical. Herein, we describe a new variant of CCA and add another example of the polypoid variant to the literature. The new variant exhibits cellular features of trichilemmoma but architecturally differs from it. We also attempt to broaden the list of CCA variants summarized by Tempark and Shwayder by adding ours and a few more examples of CCA. The new variants of CCA include verrucous, linear, subungual and trichilemmal.
PubMed: 32854184
DOI: 10.3390/dermatopathology7020005 -
Indian Journal of Dental Research :... 2010Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q....
Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.
Topics: Adolescent; Female; Gingival Neoplasms; Hamartoma Syndrome, Multiple; Humans; Mouth Mucosa; Mouth Neoplasms; Papilloma; Tongue Neoplasms
PubMed: 20930359
DOI: 10.4103/0970-9290.70803 -
Dermatology Online Journal Aug 2017Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies.... (Review)
Review
Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Given the suspicion, genetic study was conducted and PTEN mutation was identified. Cowden syndrome affects 1:200,000 individuals. Mucocutaneous lesions are almost always present and there may be other typical features involving other organs, namely thyroid, colon, and brain. Mucocutaneous lesions may be the initial manifestation of this disorder and usually precede the onset of malignant lesions, making timely diagnosis essential for proper monitoring and screening.
Topics: Genetic Testing; Hamartoma Syndrome, Multiple; Humans; Male; Middle Aged; Mutation; PTEN Phosphohydrolase
PubMed: 29469739
DOI: No ID Found