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Dome-Shaped White Papules on the Earlobe
THE DIAGNOSIS: Trichodiscoma
Histologic evaluation revealed an unremarkable epidermal surface and a subjacent well-demarcated superficial dermal nodule showing a proliferation, sometimes fascicular, of wavy and spindled fibroblasts with some stellate forms within a variably loose fibrous stroma. Some angioplasia and vascular ectasia also were seen (Figure). A diagnosis of trichodiscoma was made based on these histologic findings.
While the patient’s personal and family history of pneumothorax originally had been attributed to other causes, the diagnosis of trichodiscoma raised suspicion for Birt-Hogg-Dubé syndrome due to the classic association of skin lesions (often trichodiscomas), renal cell carcinoma, and spontaneous pneumothorax in this condition. The patient was sent for genetic testing for the associated folliculin (FLCN) gene, which was positive and thereby confirmed the diagnosis of Birt-Hogg-Dubé syndrome. At the most recent follow-up almost 2 years after initial presentation, the lesions on the earlobe were stable. The patient has since undergone screening for abdominal and renal neoplasia with negative results, and he has had no other occurrences of pneumothorax.
Our case highlights the association between trichodiscomas and Birt-Hogg-Dubé syndrome, which necessitates screening for renal cell carcinoma, pneumothorax, and lung cysts.1 Birt-Hogg-Dubé syndrome is an autosomal- dominant disorder of the skin and lungs that is characterized by a predisposition for renal carcinoma, pneumothorax, and colon polyps as well as cutaneous markers that include fibrofolliculomas, acrochordons, and trichodiscomas; the trichodiscomas tend to manifest as numerous smooth, flesh-colored or grayish-white papules on the face, ears, neck, and/or upper trunk.1
Trichodiscomas are benign lesions and do not require treatment2; however, if they are cosmetically bothersome to the patient, surgical excision is an option for single lesions. For more widespread cutaneous disease, combination therapy with a CO2 laser and erbium-doped yttrium aluminum garnet laser may be utilized.3 The differential diagnosis for trichodiscoma includes basal cell carcinoma, fibrous papule, dermal nevus, and trichofolliculoma.
Basal cell carcinoma is the most common type of skin cancer.4 Clinically, it typically manifests as pink or flesh-colored papules on the head or neck, often with overlying ulceration or telangiectasia. Due to its association with chronic sun exposure, the median age of diagnosis for basal cell carcinoma is 68 years. Histopathologically, basal cell carcinoma is characterized by islands or nests of atypical basaloid cells with palisading cells at the periphery.4 Treatment depends on the location and size of the lesion, but Mohs micrographic surgery is the most common intervention on the face and ears.5
In contrast, fibrous papules are benign lesions that manifest clinically as small, firm, flesh-colored papules that most commonly are found on the nose.6,7 On dermatopathology, classic findings include fibrovascular proliferation and scattered multinucleated triangular or stellate cells in the upper dermis.7 Due to the benign nature of the lesion, treatment is not required6; however, shave excision, electrodessication, and laser therapies can be attempted if the patient chooses to pursue treatment.8
Dermal nevus is a type of benign acquired melanocytic nevus that manifests clinically as a light-brown to flesh-colored, dome-shaped or papillomatous papule.9 It typically develops in areas that are exposed to the sun, including the face.10 There also have been cases of dermal nevi on the ear.11 Histopathology shows melanocytic nevus cells that have completely detached from the epidermis and are located entirely in the dermis.12 While dermal nevi are benign and treatment is not necessary, surgical excision is an option for patients who request removal.13
Trichofolliculoma is a benign tumor of the adnexa that shows follicular differentiation on histopathology.14 On physical examination, it manifests as an isolated flesh-colored papule or nodule with a central pore from which tufted hairs protrude. These lesions usually appear on the face or scalp and occur more commonly in women than in men. While these may be clinically indistinguishable from trichodiscomas, the absence of protruding hair in our patient’s case makes trichofolliculoma less likely. When biopsied, histopathology classically shows a cystically dilated hair follicle with keratinous material and several mature and immature branched follicular structures. Preferred treatment for trichofolliculomas is surgical excision, and recurrence is rare.14
- Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999;135:1195-202. doi:10.1001/archderm.135.10.1195
- Tong Y, Coda AB, Schneider JA, et al. Familial multiple trichodiscomas: case report and concise review. Cureus. 2017;9:E1596. doi:10.7759/cureus.1596
- Riley J, Athalye L, Tran D, et al. Concomitant fibrofolliculoma and trichodiscoma on the abdomen. Cutis. 2018;102:E30-E32.
- McDaniel B, Badri T, Steele RB. Basal cell carcinoma. StatPearls [Internet]. Updated March 13, 2024. Accessed December 19, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482439/
- Bittner GC, Kubo EM, Fantini BC, et al. Auricular reconstruction after Mohs micrographic surgery: analysis of 101 cases. An Bras Dermatol. 2021;96:408-415. doi:10.1016/j.abd.2020.12.008
- Damman J, Biswas A. Fibrous papule: a histopathologic review. Am J Dermatopathol. 2018;40:551-560. doi:10.1097/DAD.0000000000001083
- Jacyk WK, Rütten A, Requena L. Fibrous papule of the face with granular cells. Dermatology. 2008;216:56-59. doi:10.1159/000109359
- Macri A, Kwan E, Tanner LS. Cutaneous angiofibroma. StatPearls [Internet]. Updated July 19, 2024. Accessed December 19, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482470/
- Sardana K, Chakravarty P, Goel K. Optimal management of common acquired melanocytic nevi (moles): current perspectives. Clin Cosmet Investig Dermatol. 2014;7:89-103. doi:10.2147/CCID.S57782
- Conforti C, Giuffrida R, Agozzino M, et al. Basal cell carcinoma and dermal nevi of the face: comparison of localization and dermatoscopic features. Int J Dermatol. 2021;60:996-1002. doi:10.1111/ijd.15554
- Alves RV, Brandão FH, Aquino JE, et al. Intradermal melanocytic nevus of the external auditory canal. Braz J Otorhinolaryngol. 2005;71:104-106. doi: 10.1016/s1808-8694(15)31295-7
- Muradia I, Khunger N, Yadav AK. A clinical, dermoscopic, and histopathological analysis of common acquired melanocytic nevi in skin of color. J Clin Aesthet Dermatol. 2022;15:41-51.
- Sardana K, Chakravarty P, Goel K. Optimal management of common acquired melanocytic nevi (moles): current perspectives. Clin Cosmet Investig Dermatol. 2014;7:89-103. doi:10.2147/CCID.S57782
- Massara B, Sellami K, Graja S, et al. Trichofolliculoma: a case series. J Clin Aesthet Dermatol. 2023;16:41-43.
THE DIAGNOSIS: Trichodiscoma
Histologic evaluation revealed an unremarkable epidermal surface and a subjacent well-demarcated superficial dermal nodule showing a proliferation, sometimes fascicular, of wavy and spindled fibroblasts with some stellate forms within a variably loose fibrous stroma. Some angioplasia and vascular ectasia also were seen (Figure). A diagnosis of trichodiscoma was made based on these histologic findings.
While the patient’s personal and family history of pneumothorax originally had been attributed to other causes, the diagnosis of trichodiscoma raised suspicion for Birt-Hogg-Dubé syndrome due to the classic association of skin lesions (often trichodiscomas), renal cell carcinoma, and spontaneous pneumothorax in this condition. The patient was sent for genetic testing for the associated folliculin (FLCN) gene, which was positive and thereby confirmed the diagnosis of Birt-Hogg-Dubé syndrome. At the most recent follow-up almost 2 years after initial presentation, the lesions on the earlobe were stable. The patient has since undergone screening for abdominal and renal neoplasia with negative results, and he has had no other occurrences of pneumothorax.
Our case highlights the association between trichodiscomas and Birt-Hogg-Dubé syndrome, which necessitates screening for renal cell carcinoma, pneumothorax, and lung cysts.1 Birt-Hogg-Dubé syndrome is an autosomal- dominant disorder of the skin and lungs that is characterized by a predisposition for renal carcinoma, pneumothorax, and colon polyps as well as cutaneous markers that include fibrofolliculomas, acrochordons, and trichodiscomas; the trichodiscomas tend to manifest as numerous smooth, flesh-colored or grayish-white papules on the face, ears, neck, and/or upper trunk.1
Trichodiscomas are benign lesions and do not require treatment2; however, if they are cosmetically bothersome to the patient, surgical excision is an option for single lesions. For more widespread cutaneous disease, combination therapy with a CO2 laser and erbium-doped yttrium aluminum garnet laser may be utilized.3 The differential diagnosis for trichodiscoma includes basal cell carcinoma, fibrous papule, dermal nevus, and trichofolliculoma.
Basal cell carcinoma is the most common type of skin cancer.4 Clinically, it typically manifests as pink or flesh-colored papules on the head or neck, often with overlying ulceration or telangiectasia. Due to its association with chronic sun exposure, the median age of diagnosis for basal cell carcinoma is 68 years. Histopathologically, basal cell carcinoma is characterized by islands or nests of atypical basaloid cells with palisading cells at the periphery.4 Treatment depends on the location and size of the lesion, but Mohs micrographic surgery is the most common intervention on the face and ears.5
In contrast, fibrous papules are benign lesions that manifest clinically as small, firm, flesh-colored papules that most commonly are found on the nose.6,7 On dermatopathology, classic findings include fibrovascular proliferation and scattered multinucleated triangular or stellate cells in the upper dermis.7 Due to the benign nature of the lesion, treatment is not required6; however, shave excision, electrodessication, and laser therapies can be attempted if the patient chooses to pursue treatment.8
Dermal nevus is a type of benign acquired melanocytic nevus that manifests clinically as a light-brown to flesh-colored, dome-shaped or papillomatous papule.9 It typically develops in areas that are exposed to the sun, including the face.10 There also have been cases of dermal nevi on the ear.11 Histopathology shows melanocytic nevus cells that have completely detached from the epidermis and are located entirely in the dermis.12 While dermal nevi are benign and treatment is not necessary, surgical excision is an option for patients who request removal.13
Trichofolliculoma is a benign tumor of the adnexa that shows follicular differentiation on histopathology.14 On physical examination, it manifests as an isolated flesh-colored papule or nodule with a central pore from which tufted hairs protrude. These lesions usually appear on the face or scalp and occur more commonly in women than in men. While these may be clinically indistinguishable from trichodiscomas, the absence of protruding hair in our patient’s case makes trichofolliculoma less likely. When biopsied, histopathology classically shows a cystically dilated hair follicle with keratinous material and several mature and immature branched follicular structures. Preferred treatment for trichofolliculomas is surgical excision, and recurrence is rare.14
THE DIAGNOSIS: Trichodiscoma
Histologic evaluation revealed an unremarkable epidermal surface and a subjacent well-demarcated superficial dermal nodule showing a proliferation, sometimes fascicular, of wavy and spindled fibroblasts with some stellate forms within a variably loose fibrous stroma. Some angioplasia and vascular ectasia also were seen (Figure). A diagnosis of trichodiscoma was made based on these histologic findings.
While the patient’s personal and family history of pneumothorax originally had been attributed to other causes, the diagnosis of trichodiscoma raised suspicion for Birt-Hogg-Dubé syndrome due to the classic association of skin lesions (often trichodiscomas), renal cell carcinoma, and spontaneous pneumothorax in this condition. The patient was sent for genetic testing for the associated folliculin (FLCN) gene, which was positive and thereby confirmed the diagnosis of Birt-Hogg-Dubé syndrome. At the most recent follow-up almost 2 years after initial presentation, the lesions on the earlobe were stable. The patient has since undergone screening for abdominal and renal neoplasia with negative results, and he has had no other occurrences of pneumothorax.
Our case highlights the association between trichodiscomas and Birt-Hogg-Dubé syndrome, which necessitates screening for renal cell carcinoma, pneumothorax, and lung cysts.1 Birt-Hogg-Dubé syndrome is an autosomal- dominant disorder of the skin and lungs that is characterized by a predisposition for renal carcinoma, pneumothorax, and colon polyps as well as cutaneous markers that include fibrofolliculomas, acrochordons, and trichodiscomas; the trichodiscomas tend to manifest as numerous smooth, flesh-colored or grayish-white papules on the face, ears, neck, and/or upper trunk.1
Trichodiscomas are benign lesions and do not require treatment2; however, if they are cosmetically bothersome to the patient, surgical excision is an option for single lesions. For more widespread cutaneous disease, combination therapy with a CO2 laser and erbium-doped yttrium aluminum garnet laser may be utilized.3 The differential diagnosis for trichodiscoma includes basal cell carcinoma, fibrous papule, dermal nevus, and trichofolliculoma.
Basal cell carcinoma is the most common type of skin cancer.4 Clinically, it typically manifests as pink or flesh-colored papules on the head or neck, often with overlying ulceration or telangiectasia. Due to its association with chronic sun exposure, the median age of diagnosis for basal cell carcinoma is 68 years. Histopathologically, basal cell carcinoma is characterized by islands or nests of atypical basaloid cells with palisading cells at the periphery.4 Treatment depends on the location and size of the lesion, but Mohs micrographic surgery is the most common intervention on the face and ears.5
In contrast, fibrous papules are benign lesions that manifest clinically as small, firm, flesh-colored papules that most commonly are found on the nose.6,7 On dermatopathology, classic findings include fibrovascular proliferation and scattered multinucleated triangular or stellate cells in the upper dermis.7 Due to the benign nature of the lesion, treatment is not required6; however, shave excision, electrodessication, and laser therapies can be attempted if the patient chooses to pursue treatment.8
Dermal nevus is a type of benign acquired melanocytic nevus that manifests clinically as a light-brown to flesh-colored, dome-shaped or papillomatous papule.9 It typically develops in areas that are exposed to the sun, including the face.10 There also have been cases of dermal nevi on the ear.11 Histopathology shows melanocytic nevus cells that have completely detached from the epidermis and are located entirely in the dermis.12 While dermal nevi are benign and treatment is not necessary, surgical excision is an option for patients who request removal.13
Trichofolliculoma is a benign tumor of the adnexa that shows follicular differentiation on histopathology.14 On physical examination, it manifests as an isolated flesh-colored papule or nodule with a central pore from which tufted hairs protrude. These lesions usually appear on the face or scalp and occur more commonly in women than in men. While these may be clinically indistinguishable from trichodiscomas, the absence of protruding hair in our patient’s case makes trichofolliculoma less likely. When biopsied, histopathology classically shows a cystically dilated hair follicle with keratinous material and several mature and immature branched follicular structures. Preferred treatment for trichofolliculomas is surgical excision, and recurrence is rare.14
- Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999;135:1195-202. doi:10.1001/archderm.135.10.1195
- Tong Y, Coda AB, Schneider JA, et al. Familial multiple trichodiscomas: case report and concise review. Cureus. 2017;9:E1596. doi:10.7759/cureus.1596
- Riley J, Athalye L, Tran D, et al. Concomitant fibrofolliculoma and trichodiscoma on the abdomen. Cutis. 2018;102:E30-E32.
- McDaniel B, Badri T, Steele RB. Basal cell carcinoma. StatPearls [Internet]. Updated March 13, 2024. Accessed December 19, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482439/
- Bittner GC, Kubo EM, Fantini BC, et al. Auricular reconstruction after Mohs micrographic surgery: analysis of 101 cases. An Bras Dermatol. 2021;96:408-415. doi:10.1016/j.abd.2020.12.008
- Damman J, Biswas A. Fibrous papule: a histopathologic review. Am J Dermatopathol. 2018;40:551-560. doi:10.1097/DAD.0000000000001083
- Jacyk WK, Rütten A, Requena L. Fibrous papule of the face with granular cells. Dermatology. 2008;216:56-59. doi:10.1159/000109359
- Macri A, Kwan E, Tanner LS. Cutaneous angiofibroma. StatPearls [Internet]. Updated July 19, 2024. Accessed December 19, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482470/
- Sardana K, Chakravarty P, Goel K. Optimal management of common acquired melanocytic nevi (moles): current perspectives. Clin Cosmet Investig Dermatol. 2014;7:89-103. doi:10.2147/CCID.S57782
- Conforti C, Giuffrida R, Agozzino M, et al. Basal cell carcinoma and dermal nevi of the face: comparison of localization and dermatoscopic features. Int J Dermatol. 2021;60:996-1002. doi:10.1111/ijd.15554
- Alves RV, Brandão FH, Aquino JE, et al. Intradermal melanocytic nevus of the external auditory canal. Braz J Otorhinolaryngol. 2005;71:104-106. doi: 10.1016/s1808-8694(15)31295-7
- Muradia I, Khunger N, Yadav AK. A clinical, dermoscopic, and histopathological analysis of common acquired melanocytic nevi in skin of color. J Clin Aesthet Dermatol. 2022;15:41-51.
- Sardana K, Chakravarty P, Goel K. Optimal management of common acquired melanocytic nevi (moles): current perspectives. Clin Cosmet Investig Dermatol. 2014;7:89-103. doi:10.2147/CCID.S57782
- Massara B, Sellami K, Graja S, et al. Trichofolliculoma: a case series. J Clin Aesthet Dermatol. 2023;16:41-43.
- Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999;135:1195-202. doi:10.1001/archderm.135.10.1195
- Tong Y, Coda AB, Schneider JA, et al. Familial multiple trichodiscomas: case report and concise review. Cureus. 2017;9:E1596. doi:10.7759/cureus.1596
- Riley J, Athalye L, Tran D, et al. Concomitant fibrofolliculoma and trichodiscoma on the abdomen. Cutis. 2018;102:E30-E32.
- McDaniel B, Badri T, Steele RB. Basal cell carcinoma. StatPearls [Internet]. Updated March 13, 2024. Accessed December 19, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482439/
- Bittner GC, Kubo EM, Fantini BC, et al. Auricular reconstruction after Mohs micrographic surgery: analysis of 101 cases. An Bras Dermatol. 2021;96:408-415. doi:10.1016/j.abd.2020.12.008
- Damman J, Biswas A. Fibrous papule: a histopathologic review. Am J Dermatopathol. 2018;40:551-560. doi:10.1097/DAD.0000000000001083
- Jacyk WK, Rütten A, Requena L. Fibrous papule of the face with granular cells. Dermatology. 2008;216:56-59. doi:10.1159/000109359
- Macri A, Kwan E, Tanner LS. Cutaneous angiofibroma. StatPearls [Internet]. Updated July 19, 2024. Accessed December 19, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482470/
- Sardana K, Chakravarty P, Goel K. Optimal management of common acquired melanocytic nevi (moles): current perspectives. Clin Cosmet Investig Dermatol. 2014;7:89-103. doi:10.2147/CCID.S57782
- Conforti C, Giuffrida R, Agozzino M, et al. Basal cell carcinoma and dermal nevi of the face: comparison of localization and dermatoscopic features. Int J Dermatol. 2021;60:996-1002. doi:10.1111/ijd.15554
- Alves RV, Brandão FH, Aquino JE, et al. Intradermal melanocytic nevus of the external auditory canal. Braz J Otorhinolaryngol. 2005;71:104-106. doi: 10.1016/s1808-8694(15)31295-7
- Muradia I, Khunger N, Yadav AK. A clinical, dermoscopic, and histopathological analysis of common acquired melanocytic nevi in skin of color. J Clin Aesthet Dermatol. 2022;15:41-51.
- Sardana K, Chakravarty P, Goel K. Optimal management of common acquired melanocytic nevi (moles): current perspectives. Clin Cosmet Investig Dermatol. 2014;7:89-103. doi:10.2147/CCID.S57782
- Massara B, Sellami K, Graja S, et al. Trichofolliculoma: a case series. J Clin Aesthet Dermatol. 2023;16:41-43.
Dome-Shaped White Papules on the Earlobe
Dome-Shaped White Papules on the Earlobe
A 70-year-old man presented to the dermatology clinic for a routine full-body skin examination that revealed multiple asymptomatic, dome-shaped, white papules on the left posterior earlobe. The patient had a personal and family history of spontaneous pneumothorax and no history of cancer. A shave biopsy of one of the papules was performed.
