Donna Bilu Martin, MD

 

Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is an uncommon autosomal dominant genetic condition. A mutation in the calcium ATPase (ATP2C1) gene on chromosome 3q21 interferes with calcium signaling and results in a loss of keratinocyte adhesion. Generally, the onset of the condition is in the second or third decade. There are two clinical subtypes of the disease: segmental type 1 and segmental type 2.

Courtesy of Dr. Donna Bilu Martin

Lesions present as flaccid bullae, vesicles, or erosions that commonly affect the neck, axillae, and flexures. Often there is maceration and fissuring and bullae are no longer intact. Crusting and secondary bacterial, viral, or fungal infection may occur. Lesions can heal with postinflammatory pigmentation but usually do not leave scarring. Heat and sweating may exacerbate the lesions, and they become malodorous. Squamous cell carcinoma has been reported in lesions of Hailey-Hailey, so regular surveillance is important.

Histology reveals groups of acantholytic cells that resemble a “dilapidated brick wall.” Direct immunofluorescence is negative, unlike pemphigus vulgaris.

Treatment may be challenging. Topical and systemic corticosteroids often improve lesions. Topical calcineurin inhibitors can be used as steroid sparing agents. Antimicrobial cleansers can be helpful. If secondary infection is present, topical and systemic antibiotics (with Staphylococcus aureus as the most common bacteria involved), antivirals, and antifungals may be added. For extensive disease, cyclosporine and oral retinoids have been used but are not consistent in their efficacy. CO₂ laser and surgical grafting can be used for unresponsive disease.

As hyperhidrosis is a known aggravating factor, injection with botulinum toxin (this is off-label use not yet approved by the Food and Drug Administration) in affected areas to decrease sweating has been reported to be effective.

This case and photo were submitted by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

 

Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is an uncommon autosomal dominant genetic condition. A mutation in the calcium ATPase (ATP2C1) gene on chromosome 3q21 interferes with calcium signaling and results in a loss of keratinocyte adhesion. Generally, the onset of the condition is in the second or third decade. There are two clinical subtypes of the disease: segmental type 1 and segmental type 2.

Courtesy of Dr. Donna Bilu Martin

Lesions present as flaccid bullae, vesicles, or erosions that commonly affect the neck, axillae, and flexures. Often there is maceration and fissuring and bullae are no longer intact. Crusting and secondary bacterial, viral, or fungal infection may occur. Lesions can heal with postinflammatory pigmentation but usually do not leave scarring. Heat and sweating may exacerbate the lesions, and they become malodorous. Squamous cell carcinoma has been reported in lesions of Hailey-Hailey, so regular surveillance is important.

Histology reveals groups of acantholytic cells that resemble a “dilapidated brick wall.” Direct immunofluorescence is negative, unlike pemphigus vulgaris.

Treatment may be challenging. Topical and systemic corticosteroids often improve lesions. Topical calcineurin inhibitors can be used as steroid sparing agents. Antimicrobial cleansers can be helpful. If secondary infection is present, topical and systemic antibiotics (with Staphylococcus aureus as the most common bacteria involved), antivirals, and antifungals may be added. For extensive disease, cyclosporine and oral retinoids have been used but are not consistent in their efficacy. CO₂ laser and surgical grafting can be used for unresponsive disease.

As hyperhidrosis is a known aggravating factor, injection with botulinum toxin (this is off-label use not yet approved by the Food and Drug Administration) in affected areas to decrease sweating has been reported to be effective.

This case and photo were submitted by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

 

Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is an uncommon autosomal dominant genetic condition. A mutation in the calcium ATPase (ATP2C1) gene on chromosome 3q21 interferes with calcium signaling and results in a loss of keratinocyte adhesion. Generally, the onset of the condition is in the second or third decade. There are two clinical subtypes of the disease: segmental type 1 and segmental type 2.

Courtesy of Dr. Donna Bilu Martin

Lesions present as flaccid bullae, vesicles, or erosions that commonly affect the neck, axillae, and flexures. Often there is maceration and fissuring and bullae are no longer intact. Crusting and secondary bacterial, viral, or fungal infection may occur. Lesions can heal with postinflammatory pigmentation but usually do not leave scarring. Heat and sweating may exacerbate the lesions, and they become malodorous. Squamous cell carcinoma has been reported in lesions of Hailey-Hailey, so regular surveillance is important.

Histology reveals groups of acantholytic cells that resemble a “dilapidated brick wall.” Direct immunofluorescence is negative, unlike pemphigus vulgaris.

Treatment may be challenging. Topical and systemic corticosteroids often improve lesions. Topical calcineurin inhibitors can be used as steroid sparing agents. Antimicrobial cleansers can be helpful. If secondary infection is present, topical and systemic antibiotics (with Staphylococcus aureus as the most common bacteria involved), antivirals, and antifungals may be added. For extensive disease, cyclosporine and oral retinoids have been used but are not consistent in their efficacy. CO₂ laser and surgical grafting can be used for unresponsive disease.

As hyperhidrosis is a known aggravating factor, injection with botulinum toxin (this is off-label use not yet approved by the Food and Drug Administration) in affected areas to decrease sweating has been reported to be effective.

This case and photo were submitted by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

Cutaneous lupus erythematosus can be classified into acute, subacute, and chronic lesions. Chronic cutaneous lupus, or discoid lupus erythematosus (DLE), may occur independently of or in combination with systemic lupus erythematosus (SLE). They are one of the more common skin presentations seen in lupus. Young adults are typically affected, with a female-to-male ratio of 2:1. Progression from DLE to SLE is uncommon. However, patients with SLE will frequently develop discoid lesions.

Courtesy Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Lesions generally occur on the head and neck, with scalp and ears (conchal bowls) frequently affected. DLE lesions often begin as erythematous papules or plaques that may become scaly and heal with atrophy, scarring and dyspigmentation (often central hypopigmentation with peripheral hyperpigmentation). Follicular plugging is often seen in lesions. Erosions may occur. A small percentage of patients may have mucosal involvement, including the lips. Sun exposure may have a role in the development of lesions, although lesions may also occur in non–sun exposed areas. Less commonly, DLE may be generalized and involve the trunk and extremities, in addition to the head and neck. Scarring alopecia can be present on the scalp. Scarring may become disfiguring.

The differential diagnosis includes: subacute cutaneous lupus, lichen planus, seborrheic dermatitis, Jessner’s lymphocytic infiltrate, polymorphous light eruption, rosacea, granuloma faciale, and sarcoidosis. Histology of DLE may reveal hyperkeratosis, a thin epidermis with effacement of the rete ridges, a lichenoid and vacuolar interface dermatitis, and follicular plugging. Damaged keratinocytes called colloid bodies may be present. Increased mucin and thickening of the basement membrane are commonly seen. Active lesions will exhibit more of an inflammatory infiltrate. Direct immunofluorescence of lesional skin is positive in more than 75% of cases.

Courtesy Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Treatment includes sunscreen and avoidance of sun exposure. Potent or superpotent topical corticosteroids, as well as lesional injections of triamcinolone are helpful. Although, generally, it is not advised to use a high-potency steroid on the face, it can be helpful in DLE. Application should be limited to affected areas for short periods of time, with frequent monitoring for possible side effects. Topical calcineurin inhibitors can be used in addition to topical corticosteroids. If systemic treatment is indicated, hydroxychloroquine is first line. Short-term oral corticosteroid treatment can be used while transitioning to other systemic medications. Our patient had negative serologies and responded to high-dose topical steroids with complete clearing of cutaneous lesions.
This case and the photo were submitted by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

Cutaneous lupus erythematosus can be classified into acute, subacute, and chronic lesions. Chronic cutaneous lupus, or discoid lupus erythematosus (DLE), may occur independently of or in combination with systemic lupus erythematosus (SLE). They are one of the more common skin presentations seen in lupus. Young adults are typically affected, with a female-to-male ratio of 2:1. Progression from DLE to SLE is uncommon. However, patients with SLE will frequently develop discoid lesions.

Courtesy Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Lesions generally occur on the head and neck, with scalp and ears (conchal bowls) frequently affected. DLE lesions often begin as erythematous papules or plaques that may become scaly and heal with atrophy, scarring and dyspigmentation (often central hypopigmentation with peripheral hyperpigmentation). Follicular plugging is often seen in lesions. Erosions may occur. A small percentage of patients may have mucosal involvement, including the lips. Sun exposure may have a role in the development of lesions, although lesions may also occur in non–sun exposed areas. Less commonly, DLE may be generalized and involve the trunk and extremities, in addition to the head and neck. Scarring alopecia can be present on the scalp. Scarring may become disfiguring.

The differential diagnosis includes: subacute cutaneous lupus, lichen planus, seborrheic dermatitis, Jessner’s lymphocytic infiltrate, polymorphous light eruption, rosacea, granuloma faciale, and sarcoidosis. Histology of DLE may reveal hyperkeratosis, a thin epidermis with effacement of the rete ridges, a lichenoid and vacuolar interface dermatitis, and follicular plugging. Damaged keratinocytes called colloid bodies may be present. Increased mucin and thickening of the basement membrane are commonly seen. Active lesions will exhibit more of an inflammatory infiltrate. Direct immunofluorescence of lesional skin is positive in more than 75% of cases.

Courtesy Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Treatment includes sunscreen and avoidance of sun exposure. Potent or superpotent topical corticosteroids, as well as lesional injections of triamcinolone are helpful. Although, generally, it is not advised to use a high-potency steroid on the face, it can be helpful in DLE. Application should be limited to affected areas for short periods of time, with frequent monitoring for possible side effects. Topical calcineurin inhibitors can be used in addition to topical corticosteroids. If systemic treatment is indicated, hydroxychloroquine is first line. Short-term oral corticosteroid treatment can be used while transitioning to other systemic medications. Our patient had negative serologies and responded to high-dose topical steroids with complete clearing of cutaneous lesions.
This case and the photo were submitted by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

Cutaneous lupus erythematosus can be classified into acute, subacute, and chronic lesions. Chronic cutaneous lupus, or discoid lupus erythematosus (DLE), may occur independently of or in combination with systemic lupus erythematosus (SLE). They are one of the more common skin presentations seen in lupus. Young adults are typically affected, with a female-to-male ratio of 2:1. Progression from DLE to SLE is uncommon. However, patients with SLE will frequently develop discoid lesions.

Courtesy Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Lesions generally occur on the head and neck, with scalp and ears (conchal bowls) frequently affected. DLE lesions often begin as erythematous papules or plaques that may become scaly and heal with atrophy, scarring and dyspigmentation (often central hypopigmentation with peripheral hyperpigmentation). Follicular plugging is often seen in lesions. Erosions may occur. A small percentage of patients may have mucosal involvement, including the lips. Sun exposure may have a role in the development of lesions, although lesions may also occur in non–sun exposed areas. Less commonly, DLE may be generalized and involve the trunk and extremities, in addition to the head and neck. Scarring alopecia can be present on the scalp. Scarring may become disfiguring.

The differential diagnosis includes: subacute cutaneous lupus, lichen planus, seborrheic dermatitis, Jessner’s lymphocytic infiltrate, polymorphous light eruption, rosacea, granuloma faciale, and sarcoidosis. Histology of DLE may reveal hyperkeratosis, a thin epidermis with effacement of the rete ridges, a lichenoid and vacuolar interface dermatitis, and follicular plugging. Damaged keratinocytes called colloid bodies may be present. Increased mucin and thickening of the basement membrane are commonly seen. Active lesions will exhibit more of an inflammatory infiltrate. Direct immunofluorescence of lesional skin is positive in more than 75% of cases.

Courtesy Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Treatment includes sunscreen and avoidance of sun exposure. Potent or superpotent topical corticosteroids, as well as lesional injections of triamcinolone are helpful. Although, generally, it is not advised to use a high-potency steroid on the face, it can be helpful in DLE. Application should be limited to affected areas for short periods of time, with frequent monitoring for possible side effects. Topical calcineurin inhibitors can be used in addition to topical corticosteroids. If systemic treatment is indicated, hydroxychloroquine is first line. Short-term oral corticosteroid treatment can be used while transitioning to other systemic medications. Our patient had negative serologies and responded to high-dose topical steroids with complete clearing of cutaneous lesions.
This case and the photo were submitted by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

 

Angiosarcoma is also known as malignant hemangioendothelioma, hemangiosarcoma, and lymphangiosarcoma. It is an uncommon, high-grade malignant vascular neoplasm of the inner lining of blood vessels. Unlike most sarcomas, it occurs more superficially, most often on the head and neck (particularly on the scalp). This neoplasm occurs twice as often in males as it does in females. Angiosarcomas can occur in the breast after radiation therapy, as well as in the liver and spleen, but 60% are cutaneous.
 

Courtesy Parteek Singla, MD, and Susannah McClain, MD

Most commonly, angiosarcomas are seen in the elderly on sun-damaged sites, such as the head and neck, without lymphedema. Other risk factors include radiation therapy, with lesions typically occurring 5-10 years after treatment. Also, chronic lymphedema (Stewart-Treves syndrome), most commonly following after breast cancer treatment with axillary node dissection, increases the risk of angiosarcomas. This condition has a poor prognosis, with metastases to the lung as the most frequent cause of death.

Clinical exam findings may show a violaceous lesion similar to a bruise on the head and neck that does not heal or bleeds when scratched; this is of particular concern when the lesion has appeared in an area of prior radiation therapy. Deeper tumors may be felt as a soft nodule. Ulceration may be present. Biopsy of the lesion will show hyperchromatic, pleomorphic tumor cells that dissect between collagen bundles with endothelial cells that are multilayered along with hemorrhage. Malignant cells stain positive for CD31, CD34, ERG, and FLI1.

For localized disease, surgery with wide local excision plus adjuvant radiation therapy can be used. For metastatic disease, chemotherapy is the treatment modality of choice. Unfortunately, prognosis is poor, with a 5-year survival rate of about 35% in nonmetastatic angiosarcoma cases. The majority of recurrences – approximately 75% – occur within 24 months of local treatment.

This case and photo were submitted by Parteek Singla, MD, of the division of dermatology at Washington University and at Barnes-Jewish Hospital, both in St. Louis, and by Susannah McClain, MD, of Three Rivers Dermatology, Coraopolis, Pa.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

 

Angiosarcoma is also known as malignant hemangioendothelioma, hemangiosarcoma, and lymphangiosarcoma. It is an uncommon, high-grade malignant vascular neoplasm of the inner lining of blood vessels. Unlike most sarcomas, it occurs more superficially, most often on the head and neck (particularly on the scalp). This neoplasm occurs twice as often in males as it does in females. Angiosarcomas can occur in the breast after radiation therapy, as well as in the liver and spleen, but 60% are cutaneous.
 

Courtesy Parteek Singla, MD, and Susannah McClain, MD

Most commonly, angiosarcomas are seen in the elderly on sun-damaged sites, such as the head and neck, without lymphedema. Other risk factors include radiation therapy, with lesions typically occurring 5-10 years after treatment. Also, chronic lymphedema (Stewart-Treves syndrome), most commonly following after breast cancer treatment with axillary node dissection, increases the risk of angiosarcomas. This condition has a poor prognosis, with metastases to the lung as the most frequent cause of death.

Clinical exam findings may show a violaceous lesion similar to a bruise on the head and neck that does not heal or bleeds when scratched; this is of particular concern when the lesion has appeared in an area of prior radiation therapy. Deeper tumors may be felt as a soft nodule. Ulceration may be present. Biopsy of the lesion will show hyperchromatic, pleomorphic tumor cells that dissect between collagen bundles with endothelial cells that are multilayered along with hemorrhage. Malignant cells stain positive for CD31, CD34, ERG, and FLI1.

For localized disease, surgery with wide local excision plus adjuvant radiation therapy can be used. For metastatic disease, chemotherapy is the treatment modality of choice. Unfortunately, prognosis is poor, with a 5-year survival rate of about 35% in nonmetastatic angiosarcoma cases. The majority of recurrences – approximately 75% – occur within 24 months of local treatment.

This case and photo were submitted by Parteek Singla, MD, of the division of dermatology at Washington University and at Barnes-Jewish Hospital, both in St. Louis, and by Susannah McClain, MD, of Three Rivers Dermatology, Coraopolis, Pa.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].

 

Angiosarcoma is also known as malignant hemangioendothelioma, hemangiosarcoma, and lymphangiosarcoma. It is an uncommon, high-grade malignant vascular neoplasm of the inner lining of blood vessels. Unlike most sarcomas, it occurs more superficially, most often on the head and neck (particularly on the scalp). This neoplasm occurs twice as often in males as it does in females. Angiosarcomas can occur in the breast after radiation therapy, as well as in the liver and spleen, but 60% are cutaneous.
 

Courtesy Parteek Singla, MD, and Susannah McClain, MD

Most commonly, angiosarcomas are seen in the elderly on sun-damaged sites, such as the head and neck, without lymphedema. Other risk factors include radiation therapy, with lesions typically occurring 5-10 years after treatment. Also, chronic lymphedema (Stewart-Treves syndrome), most commonly following after breast cancer treatment with axillary node dissection, increases the risk of angiosarcomas. This condition has a poor prognosis, with metastases to the lung as the most frequent cause of death.

Clinical exam findings may show a violaceous lesion similar to a bruise on the head and neck that does not heal or bleeds when scratched; this is of particular concern when the lesion has appeared in an area of prior radiation therapy. Deeper tumors may be felt as a soft nodule. Ulceration may be present. Biopsy of the lesion will show hyperchromatic, pleomorphic tumor cells that dissect between collagen bundles with endothelial cells that are multilayered along with hemorrhage. Malignant cells stain positive for CD31, CD34, ERG, and FLI1.

For localized disease, surgery with wide local excision plus adjuvant radiation therapy can be used. For metastatic disease, chemotherapy is the treatment modality of choice. Unfortunately, prognosis is poor, with a 5-year survival rate of about 35% in nonmetastatic angiosarcoma cases. The majority of recurrences – approximately 75% – occur within 24 months of local treatment.

This case and photo were submitted by Parteek Singla, MD, of the division of dermatology at Washington University and at Barnes-Jewish Hospital, both in St. Louis, and by Susannah McClain, MD, of Three Rivers Dermatology, Coraopolis, Pa.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, in Aventura, Fla. More diagnostic cases are available at edermatologynews.com. To submit a case for possible publication, send an email to [email protected].