Dr. Andrew R. Styperek

Diagnosis: Basal cell carcinoma

Basal cell carcinoma (BCC) is the most common skin cancer diagnosed in the United States, with approximately 2.8 million cases diagnosed annually, according to the Skin Cancer Foundation. While a minority of cases are linked to genetic syndromes (e.g., basal cell nevus syndrome), most cases result from ultraviolet sun exposure. A power law model was recently described linking ultraviolet exposure and incidence of basal cell carcinoma.

Many diagnosed BCC cases are small (< 1cm in size) and easily treated in the clinic.  In cases where treatment is delayed for years due to financial, psychological, or psychiatric reasons, tumors can cause significant local tissue destruction and grow to alarming sizes.

The differential diagnosis of BCC may vary depending on the clinical sub-type (e.g., superficial, nodular, infiltrative, etc). Nodular BCC may mimic adnexal neoplasms, intradermal melanocytic nevi, Merkel cell carcinoma, or even amelanotic melanoma. Superficial BCC may mimic a lichenoid keratosis, Bowen’s disease, or other inflammatory conditions such as psoriasis and dermatitis. A larger lesion may mimic chronic infections such as mycetoma, or distant metastases from another primary carcinoma (breast or renal). Location and history can assist with teasing out the probable cause.

While diagnosis of this lesion can be made based on history and clinical appearance, this is best assisted with a biopsy, preferably a punch or incisional biopsy as chronic scarring and pseudoepitheliomatous hyperplasia may affect the pathologic diagnosis. Bacteria often colonize these large tumors and can lead to secondary infections. In this patient, maggots were noted in the skin.

While there are multiple modalities available for treating small tumors (e.g., topical imiquimod, 5-fluorouracil, electrodessication and curettage, excision, Mohs), larger tumors are often handled differently. While some might consider radiation therapy in this case, typically Mohs surgery is the treatment of choice. Oral vismodegib, a smoothened inhibitor, has been marketed for locally advanced basal cell carcinoma and has been used as a primary or adjunctive therapy with Mohs in tumors of this size. One important factor determining the choice of treatment is whether the primary tumor has spread. In tumors who have been left untreated for a long time, it is reasonable to image the patient to evaluate for metastases.

We present this case as an example where Mohs provided immediate definitive treatment. This tumor was cleared in 1 stage, with 67 slides read to evaluate the entire peripheral and deep margin. The Mohs surgery was performed under local anesthesia with no additional sedatives and 3-0 nylon sutures were used to approximate the wound. A two month follow-up photo is shown showing an almost healed surgical wound with an acceptable cosmetic result.

Diagnosis: Basal cell carcinoma

Basal cell carcinoma (BCC) is the most common skin cancer diagnosed in the United States, with approximately 2.8 million cases diagnosed annually, according to the Skin Cancer Foundation. While a minority of cases are linked to genetic syndromes (e.g., basal cell nevus syndrome), most cases result from ultraviolet sun exposure. A power law model was recently described linking ultraviolet exposure and incidence of basal cell carcinoma.

Many diagnosed BCC cases are small (< 1cm in size) and easily treated in the clinic.  In cases where treatment is delayed for years due to financial, psychological, or psychiatric reasons, tumors can cause significant local tissue destruction and grow to alarming sizes.

The differential diagnosis of BCC may vary depending on the clinical sub-type (e.g., superficial, nodular, infiltrative, etc). Nodular BCC may mimic adnexal neoplasms, intradermal melanocytic nevi, Merkel cell carcinoma, or even amelanotic melanoma. Superficial BCC may mimic a lichenoid keratosis, Bowen’s disease, or other inflammatory conditions such as psoriasis and dermatitis. A larger lesion may mimic chronic infections such as mycetoma, or distant metastases from another primary carcinoma (breast or renal). Location and history can assist with teasing out the probable cause.

While diagnosis of this lesion can be made based on history and clinical appearance, this is best assisted with a biopsy, preferably a punch or incisional biopsy as chronic scarring and pseudoepitheliomatous hyperplasia may affect the pathologic diagnosis. Bacteria often colonize these large tumors and can lead to secondary infections. In this patient, maggots were noted in the skin.

While there are multiple modalities available for treating small tumors (e.g., topical imiquimod, 5-fluorouracil, electrodessication and curettage, excision, Mohs), larger tumors are often handled differently. While some might consider radiation therapy in this case, typically Mohs surgery is the treatment of choice. Oral vismodegib, a smoothened inhibitor, has been marketed for locally advanced basal cell carcinoma and has been used as a primary or adjunctive therapy with Mohs in tumors of this size. One important factor determining the choice of treatment is whether the primary tumor has spread. In tumors who have been left untreated for a long time, it is reasonable to image the patient to evaluate for metastases.

We present this case as an example where Mohs provided immediate definitive treatment. This tumor was cleared in 1 stage, with 67 slides read to evaluate the entire peripheral and deep margin. The Mohs surgery was performed under local anesthesia with no additional sedatives and 3-0 nylon sutures were used to approximate the wound. A two month follow-up photo is shown showing an almost healed surgical wound with an acceptable cosmetic result.

Diagnosis: Basal cell carcinoma

Basal cell carcinoma (BCC) is the most common skin cancer diagnosed in the United States, with approximately 2.8 million cases diagnosed annually, according to the Skin Cancer Foundation. While a minority of cases are linked to genetic syndromes (e.g., basal cell nevus syndrome), most cases result from ultraviolet sun exposure. A power law model was recently described linking ultraviolet exposure and incidence of basal cell carcinoma.

Many diagnosed BCC cases are small (< 1cm in size) and easily treated in the clinic.  In cases where treatment is delayed for years due to financial, psychological, or psychiatric reasons, tumors can cause significant local tissue destruction and grow to alarming sizes.

The differential diagnosis of BCC may vary depending on the clinical sub-type (e.g., superficial, nodular, infiltrative, etc). Nodular BCC may mimic adnexal neoplasms, intradermal melanocytic nevi, Merkel cell carcinoma, or even amelanotic melanoma. Superficial BCC may mimic a lichenoid keratosis, Bowen’s disease, or other inflammatory conditions such as psoriasis and dermatitis. A larger lesion may mimic chronic infections such as mycetoma, or distant metastases from another primary carcinoma (breast or renal). Location and history can assist with teasing out the probable cause.

While diagnosis of this lesion can be made based on history and clinical appearance, this is best assisted with a biopsy, preferably a punch or incisional biopsy as chronic scarring and pseudoepitheliomatous hyperplasia may affect the pathologic diagnosis. Bacteria often colonize these large tumors and can lead to secondary infections. In this patient, maggots were noted in the skin.

While there are multiple modalities available for treating small tumors (e.g., topical imiquimod, 5-fluorouracil, electrodessication and curettage, excision, Mohs), larger tumors are often handled differently. While some might consider radiation therapy in this case, typically Mohs surgery is the treatment of choice. Oral vismodegib, a smoothened inhibitor, has been marketed for locally advanced basal cell carcinoma and has been used as a primary or adjunctive therapy with Mohs in tumors of this size. One important factor determining the choice of treatment is whether the primary tumor has spread. In tumors who have been left untreated for a long time, it is reasonable to image the patient to evaluate for metastases.

We present this case as an example where Mohs provided immediate definitive treatment. This tumor was cleared in 1 stage, with 67 slides read to evaluate the entire peripheral and deep margin. The Mohs surgery was performed under local anesthesia with no additional sedatives and 3-0 nylon sutures were used to approximate the wound. A two month follow-up photo is shown showing an almost healed surgical wound with an acceptable cosmetic result.

Diagnosis: Systemic sclerosis

Systemic sclerosis, or scleroderma, is a rare connective tissue disorder in which excessive collagen is deposited in the skin and internal organs. This disease predominantly affects women (3-6:1) between the ages of 20 and 60 years with no apparent racial predominance. Effective treatment is critical, as scleroderma carries a poor prognosis, with a mortality rate of up to 50% at 5 years in severe cases. The pathogenesis of systemic sclerosis is unknown, but three pathways are implicated, including immune deregulation, vascular abnormalities, and abnormal fibroblast activation.

Clinical presentation is variable because of the involvement of multiple organ systems. Common features include cutaneous pruritus, skin thickening, Raynaud's phenomenon, difficulty swallowing, shortness of breath, palpitations, nonproductive cough, and joint pain and swelling, as well as muscle pain and weakness. Laboratory findings may include elevated erythrocyte sedimentation rate, thrombocytopenia, hypergammaglobulinemia, increased urea and creatinine levels, and elevated C-reactive protein. Antinuclear antibodies are usually elevated, especially Scl-70, antimitochondrial, and anticentromere antibodies. Cardiac and pulmonary function should be assessed upon diagnosis. A Doppler echocardiogram may detect cardiac abnormalities, and chest x-ray or high-resolution CT is used to assess for pulmonary fibrosis.

Despite the severity of the disease, there are no Food and Drug Administration-approved disease-modifying agents for the treatment of scleroderma, and management often focuses on symptom relief. For example, patients with kidney involvement should be placed on an ACE inhibitor or angiotensin II inhibitor therapy, and patients with gastrointestinal tract involvement should use proton pump inhibitors and H2 blockers to control reflux. Bosentan and pentoxifylline, which target vascular abnormalities, also may help improve skin fibrosis. Steroids show benefits in the early stages of the disease, but carry a risk of scleroderma renal crisis with doses greater than 15 mg of prednisone daily. Mycophenolate mofetil and sirolimus have immunomodulatory and antifibrotic properties, which may be of benefit in this disease.

Cyclophosphamide is reserved for more severe cases. Other treatment modalities include rituximab, intravenous immunoglobulin, and autologous stem cell transplantation.

Diagnosis: Systemic sclerosis

Systemic sclerosis, or scleroderma, is a rare connective tissue disorder in which excessive collagen is deposited in the skin and internal organs. This disease predominantly affects women (3-6:1) between the ages of 20 and 60 years with no apparent racial predominance. Effective treatment is critical, as scleroderma carries a poor prognosis, with a mortality rate of up to 50% at 5 years in severe cases. The pathogenesis of systemic sclerosis is unknown, but three pathways are implicated, including immune deregulation, vascular abnormalities, and abnormal fibroblast activation.

Clinical presentation is variable because of the involvement of multiple organ systems. Common features include cutaneous pruritus, skin thickening, Raynaud's phenomenon, difficulty swallowing, shortness of breath, palpitations, nonproductive cough, and joint pain and swelling, as well as muscle pain and weakness. Laboratory findings may include elevated erythrocyte sedimentation rate, thrombocytopenia, hypergammaglobulinemia, increased urea and creatinine levels, and elevated C-reactive protein. Antinuclear antibodies are usually elevated, especially Scl-70, antimitochondrial, and anticentromere antibodies. Cardiac and pulmonary function should be assessed upon diagnosis. A Doppler echocardiogram may detect cardiac abnormalities, and chest x-ray or high-resolution CT is used to assess for pulmonary fibrosis.

Despite the severity of the disease, there are no Food and Drug Administration-approved disease-modifying agents for the treatment of scleroderma, and management often focuses on symptom relief. For example, patients with kidney involvement should be placed on an ACE inhibitor or angiotensin II inhibitor therapy, and patients with gastrointestinal tract involvement should use proton pump inhibitors and H2 blockers to control reflux. Bosentan and pentoxifylline, which target vascular abnormalities, also may help improve skin fibrosis. Steroids show benefits in the early stages of the disease, but carry a risk of scleroderma renal crisis with doses greater than 15 mg of prednisone daily. Mycophenolate mofetil and sirolimus have immunomodulatory and antifibrotic properties, which may be of benefit in this disease.

Cyclophosphamide is reserved for more severe cases. Other treatment modalities include rituximab, intravenous immunoglobulin, and autologous stem cell transplantation.

Diagnosis: Systemic sclerosis

Systemic sclerosis, or scleroderma, is a rare connective tissue disorder in which excessive collagen is deposited in the skin and internal organs. This disease predominantly affects women (3-6:1) between the ages of 20 and 60 years with no apparent racial predominance. Effective treatment is critical, as scleroderma carries a poor prognosis, with a mortality rate of up to 50% at 5 years in severe cases. The pathogenesis of systemic sclerosis is unknown, but three pathways are implicated, including immune deregulation, vascular abnormalities, and abnormal fibroblast activation.

Clinical presentation is variable because of the involvement of multiple organ systems. Common features include cutaneous pruritus, skin thickening, Raynaud's phenomenon, difficulty swallowing, shortness of breath, palpitations, nonproductive cough, and joint pain and swelling, as well as muscle pain and weakness. Laboratory findings may include elevated erythrocyte sedimentation rate, thrombocytopenia, hypergammaglobulinemia, increased urea and creatinine levels, and elevated C-reactive protein. Antinuclear antibodies are usually elevated, especially Scl-70, antimitochondrial, and anticentromere antibodies. Cardiac and pulmonary function should be assessed upon diagnosis. A Doppler echocardiogram may detect cardiac abnormalities, and chest x-ray or high-resolution CT is used to assess for pulmonary fibrosis.

Despite the severity of the disease, there are no Food and Drug Administration-approved disease-modifying agents for the treatment of scleroderma, and management often focuses on symptom relief. For example, patients with kidney involvement should be placed on an ACE inhibitor or angiotensin II inhibitor therapy, and patients with gastrointestinal tract involvement should use proton pump inhibitors and H2 blockers to control reflux. Bosentan and pentoxifylline, which target vascular abnormalities, also may help improve skin fibrosis. Steroids show benefits in the early stages of the disease, but carry a risk of scleroderma renal crisis with doses greater than 15 mg of prednisone daily. Mycophenolate mofetil and sirolimus have immunomodulatory and antifibrotic properties, which may be of benefit in this disease.

Cyclophosphamide is reserved for more severe cases. Other treatment modalities include rituximab, intravenous immunoglobulin, and autologous stem cell transplantation.