Generalized trichoepithelioma: Difference between revisions
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{{Infobox medical condition | |||
[[File:Trichoepithelioma.jpg| | | name = Generalized trichoepithelioma | ||
| image = [[File:Trichoepithelioma.jpg|alt=Trichoepithelioma]] | |||
| caption = Trichoepithelioma on the skin | |||
| synonyms = Multiple familial trichoepithelioma | |||
| specialty = [[Dermatology]] | |||
| symptoms = Multiple small skin-colored papules | |||
| complications = [[Basal cell carcinoma]] | |||
| onset = Childhood or adolescence | |||
| duration = Lifelong | |||
| causes = Genetic mutation | |||
| risks = Family history | |||
| diagnosis = [[Skin biopsy]], [[Genetic testing]] | |||
| differential = [[Basal cell carcinoma]], [[Syringoma]], [[Milia]] | |||
| treatment = [[Surgical excision]], [[Laser therapy]], [[Electrodesiccation]] | |||
| medication = [[Topical retinoids]], [[Oral retinoids]] | |||
| prognosis = Generally benign | |||
| frequency = Rare | |||
}} | |||
'''Generalized trichoepithelioma''' is a rare [[genetic disorder]] characterized by the presence of multiple [[benign]] skin tumors known as [[trichoepitheliomas]]. These tumors originate from the [[hair follicle]]s and are typically found on the [[face]], [[scalp]], and [[neck]]. | '''Generalized trichoepithelioma''' is a rare [[genetic disorder]] characterized by the presence of multiple [[benign]] skin tumors known as [[trichoepitheliomas]]. These tumors originate from the [[hair follicle]]s and are typically found on the [[face]], [[scalp]], and [[neck]]. | ||
== Clinical Features == | == Clinical Features == | ||
Generalized trichoepithelioma presents with numerous small, firm, skin-colored papules. These papules are usually symmetrically distributed and can coalesce into larger plaques. The condition is often first noticed in [[childhood]] or [[adolescence]] and tends to progress with age. | Generalized trichoepithelioma presents with numerous small, firm, skin-colored papules. These papules are usually symmetrically distributed and can coalesce into larger plaques. The condition is often first noticed in [[childhood]] or [[adolescence]] and tends to progress with age. | ||
=== Symptoms === | === Symptoms === | ||
- Multiple papules on the face, particularly around the [[nose]], [[cheeks]], and [[forehead]]. | - Multiple papules on the face, particularly around the [[nose]], [[cheeks]], and [[forehead]]. | ||
- Papules may also appear on the [[scalp]], [[neck]], and [[upper trunk]]. | - Papules may also appear on the [[scalp]], [[neck]], and [[upper trunk]]. | ||
- Lesions are typically asymptomatic but can occasionally cause [[itching]] or [[irritation]]. | - Lesions are typically asymptomatic but can occasionally cause [[itching]] or [[irritation]]. | ||
== Pathophysiology == | == Pathophysiology == | ||
Generalized trichoepithelioma is caused by mutations in the [[CYLD]] gene, which is responsible for encoding a protein that regulates cell growth and division. The mutation leads to uncontrolled proliferation of cells in the hair follicle, resulting in tumor formation. | Generalized trichoepithelioma is caused by mutations in the [[CYLD]] gene, which is responsible for encoding a protein that regulates cell growth and division. The mutation leads to uncontrolled proliferation of cells in the hair follicle, resulting in tumor formation. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis is primarily clinical, based on the characteristic appearance of the lesions. A [[skin biopsy]] can be performed to confirm the diagnosis, revealing nests of basaloid cells with peripheral palisading and [[keratin]] cysts. | Diagnosis is primarily clinical, based on the characteristic appearance of the lesions. A [[skin biopsy]] can be performed to confirm the diagnosis, revealing nests of basaloid cells with peripheral palisading and [[keratin]] cysts. | ||
== Treatment == | == Treatment == | ||
There is no definitive cure for generalized trichoepithelioma, but several treatment options can help manage the condition: | There is no definitive cure for generalized trichoepithelioma, but several treatment options can help manage the condition: | ||
- '''Surgical excision''': Individual lesions can be removed surgically, although new lesions may develop. | - '''Surgical excision''': Individual lesions can be removed surgically, although new lesions may develop. | ||
- '''Laser therapy''': [[Carbon dioxide laser]] or [[pulsed dye laser]] can be used to reduce the appearance of lesions. | - '''Laser therapy''': [[Carbon dioxide laser]] or [[pulsed dye laser]] can be used to reduce the appearance of lesions. | ||
- '''Topical treatments''': [[Topical retinoids]] or [[imiquimod]] cream may be used to reduce lesion size. | - '''Topical treatments''': [[Topical retinoids]] or [[imiquimod]] cream may be used to reduce lesion size. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with generalized trichoepithelioma is generally good, as the condition is benign and does not affect overall health. However, the cosmetic appearance of the lesions can be distressing for patients. | The prognosis for individuals with generalized trichoepithelioma is generally good, as the condition is benign and does not affect overall health. However, the cosmetic appearance of the lesions can be distressing for patients. | ||
== See Also == | |||
== | |||
- [[Trichoepithelioma]] | - [[Trichoepithelioma]] | ||
- [[Basal cell carcinoma]] | - [[Basal cell carcinoma]] | ||
- [[Skin tumor]] | - [[Skin tumor]] | ||
- [[Genetic disorder]] | - [[Genetic disorder]] | ||
{{Dermatology}} | {{Dermatology}} | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 03:12, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Generalized trichoepithelioma | |
|---|---|
| |
| Synonyms | Multiple familial trichoepithelioma |
| Pronounce | N/A |
| Specialty | Dermatology |
| Symptoms | Multiple small skin-colored papules |
| Complications | Basal cell carcinoma |
| Onset | Childhood or adolescence |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Skin biopsy, Genetic testing |
| Differential diagnosis | Basal cell carcinoma, Syringoma, Milia |
| Prevention | N/A |
| Treatment | Surgical excision, Laser therapy, Electrodesiccation |
| Medication | Topical retinoids, Oral retinoids |
| Prognosis | Generally benign |
| Frequency | Rare |
| Deaths | N/A |
Generalized trichoepithelioma is a rare genetic disorder characterized by the presence of multiple benign skin tumors known as trichoepitheliomas. These tumors originate from the hair follicles and are typically found on the face, scalp, and neck.
Clinical Features[edit]
Generalized trichoepithelioma presents with numerous small, firm, skin-colored papules. These papules are usually symmetrically distributed and can coalesce into larger plaques. The condition is often first noticed in childhood or adolescence and tends to progress with age.
Symptoms[edit]
- Multiple papules on the face, particularly around the nose, cheeks, and forehead. - Papules may also appear on the scalp, neck, and upper trunk. - Lesions are typically asymptomatic but can occasionally cause itching or irritation.
Pathophysiology[edit]
Generalized trichoepithelioma is caused by mutations in the CYLD gene, which is responsible for encoding a protein that regulates cell growth and division. The mutation leads to uncontrolled proliferation of cells in the hair follicle, resulting in tumor formation.
Diagnosis[edit]
Diagnosis is primarily clinical, based on the characteristic appearance of the lesions. A skin biopsy can be performed to confirm the diagnosis, revealing nests of basaloid cells with peripheral palisading and keratin cysts.
Treatment[edit]
There is no definitive cure for generalized trichoepithelioma, but several treatment options can help manage the condition: - Surgical excision: Individual lesions can be removed surgically, although new lesions may develop. - Laser therapy: Carbon dioxide laser or pulsed dye laser can be used to reduce the appearance of lesions. - Topical treatments: Topical retinoids or imiquimod cream may be used to reduce lesion size.
Prognosis[edit]
The prognosis for individuals with generalized trichoepithelioma is generally good, as the condition is benign and does not affect overall health. However, the cosmetic appearance of the lesions can be distressing for patients.
See Also[edit]
- Trichoepithelioma - Basal cell carcinoma - Skin tumor - Genetic disorder
