A 48-year-old African-American woman was referred to the dermatology clinic for the evaluation of a tender nodule on her right lower extremity. The patient stated that the nodule had been present for the previous 2 years during which there was a slight but steady increase in size and tenderness. A biopsy taken from the nodule a year prior led to a morphea diagnosis, and high potency topical steroids were prescribed. However, when the patient did not notice any changes from that treatment, she sought a second opinion at our clinic. During this visit, the physical examination revealed a 2.5 cm x 2.5 cm firm and tender deep dermal to subcutaneous nodule. The nodule was freely movable and there was slight discoloration of the overlying skin. An excisional biopsy was performed.
What is Your Diagnosis?
Diagnosis: Angioleiomyoma
Angioleiomyomas are relatively uncommon benign smooth muscle tumors that arise from the tunica media of the veins and small arteries.1,2 This type of tumor is commonly seen in deep dermal and subcutaneous tissues and was first reported by Aufrecht in 1868 as a definitive diagnosis.3
Clinical Presentation
Angioleiomyomas most commonly occur in the deep dermal and subcutaneous tissue of the extremities, especially on the extensor surfaces of the lower extremities. Less common locations include the head or the trunk. 1,4 They can also occur in rare locations such as the mediastinum, tendons, sellar region and larynx.5,6,7,8 Angioleiomyomas commonly present in females in their fourth, fifth or sixth decade as solitary and well-defined palpable dermal nodules. These tumors have a male to female ratio of 1:1.7.1,9 Angioleiomyomas with a 12 cm x 10 cm size have been reported, but up to 78% of these tumors are less than 2 cm in diameter. 1,10 Their size decreases significantly with increasing patient age and may undergo slow increases in size over a period of time. 11,12 The tumors may also diminish in size with the initiation of pain.1,12 There are three types of angioleiomyomas: cavernous, solid and venous. Cavernous angioleiomyomas have dilated vascular channels with less smooth muscle; venous angioleiomyomas have thick vascular walls with less smooth muscle; and solid angioleiomyomas have compacted smooth muscle with small vascular channels.13 The solid type of angioleiomyoma is the most common and occurs three times more in females than males and tends to occur in the lower extremities. The cavernous and venous type are more common in males, with the cavernous type seen mainly in the upper extremities and the venous type seen mainly on the head. The average duration prior to excision of the solid, cavernous and venous types are 4, 5 and 7 years, respectively. Up to 60% of angioleiomyomas present as a painful lesion with a paroxysmal nature. They become worse with a light touch, cold, wind, exercise, menstruation and even pregnancy. Painful lesions may initially present as painless tumors, but once they become painful, the pain generally becomes worse in time.1,12 Nerve fibers have been identified within the parenchyma of angioleiomyomas and the pain occurring in these tumors could be due to the nerve fiber irritation. 14 Local ischemia from vessel contraction has also been suggested as the cause of pain.1 Low mast cell density in painful angioleiomyomas could suggest that mast cell degranulation is increased in these painful tumors.15 Bone destruction and medullary canal invasion by an angioleiomyoma is a very rare presentation, but has been reported in a number of cases occurring in the digits.16
Histology
On macroscopic examination, angioleiomyomas are round or oval encapsulated tumors with gray-white or brown cut surfaces that have a firm or rubbery consistency.1,9 Histologically they are composed of blood vessels with muscular walls, out of which the muscular cells grow and fuse with fascicles of smooth muscle of which they become a part. 9 Angioleiomyomas are histologically classified into solid, venous and cavernous types. sup>17 There are also some rare histopathologic varients that include epithelioid angioleiomyomas, palisaded angioleiomyomas, intravascular angioleiomyomas, pleomorphic angioleiomyomas, and acral calcified angioleiomyomas. 18,19,20 Cytology Benign smooth muscle cells and benign uniform spindle cells are the common cytological features of angioleiomyomas. These findings are not sufficient for the diagnosis but are helpful for eliminating some of characteristic cytological features in the differential diagnosis.21 Immunohistochemistry Immunohistochemically, angioleiomyomas are positive for actin, desmin and type IV collagen.18 CD34 positive stromal cells are not seen within the stromal cells of angioleiomyomas, but are present at the borders of the tumor. This may be associated with the distinctive tumor morphology.22 Pathogenesis and Genetics Epstein-Barr virus (EBV) genome was detected in a patient with acquired immunodeficiency syndrome presenting with multiple subcutaneous angioleiomyomas. To confirm the role of EBV in the pathogenesis of angioleiomyoma, more studies are needed.23 A number of angioleiomyomas have DNA copy number changes mainly on ch22 and Xq. There have also been reports of other chromosomal abnormalities in the past, which suggest that specific chromosomal regions may contain genes responsible for the development of some angioleiomyomas.24
Imaging
MRI and sonographic examinations of angioleiomyomas have been studied as methods of diagnosis, but their findings are not sufficient for a definitive diagnosis.25, 26 Three dimensional magnetic resonance angiography (3D-MRA) can provide useful information about the feeder arteries of the tumor and TC-99m RBC perfusion and blood-pool scintigraphy can be used to evaluate the exact extent of the tumor, but none can provide enough information for the diagnosis of vascular leiomyoma.10, 27
Differential Diagnosis
The differential diagnosis should consider the following: Piloleiomyomas — These can present as movable solitary or multiple intradermal nodules. They are usually painful and occur commonly on extensor surfaces of extremities. Myofibromas — These can present as a solitary, movable and nontender nodules on the skin. They are most commonly seen on the head and neck region. Leiomyosarcomas — Cutaneous leiomyosarcomas usually present as painful solitary nodules on the extremities, with changes like discoloration, ulceration and crusting occurring on the overlying skin. A subcutaneous leiomyosarcoma can present as a painful, movable subcutaneous mass with fewer changes occurring on the overlying skin. Glomus tumors — These are small, painful benign tumors that occur on the extremities and are most commonly seen under and around the nails, where angioleiomyomas do not occur. Foreign body granuloma — Foreign body granuloma is a tissue reaction to retained foreign bodies after skin-penetrating trauma; without a history of trauma, it can be mistaken for a soft tissue mass. Hemangioma — Hemangioma is a benign vascular proliferation that presents as a small fast-growing red nodule. Nodular fasciitis — These benign, movable subcutaneous tumors are most commonly seen on the upper extremities and are usually less than 3 cm in size. Fibrous histiocytoma — The benign form presents as a painless, small and slowly growing lump that arises from the skin and subcutaneous tissue. Schwannomas — These benign tumors arise within a nerve trunk, and present as a painful swelling that is only movable from side to side and not in the vertical axis. Pseudoaneurysm — Such a false aneurysm can present as a firm and tender mass. In some cases, it can be mistaken for a soft tissue tumor.
Management and Outcome
The treatment of choice for solitary angioleiomyomas is surgical excision. 12,18 Depending on the location of the angioleiomyoma, preoperative embolization of the main tumor vessel can reduce the excessive blood loss during surgery.28 There is usually no reoccurrence or malignant transformation of the tumor, but there have been reports of such.1,29 Our patient’s tumor was treated in the office with surgical excision. No complications occurred during the procedure and she was satisfied with the surgical outcome. No reoccurrence was noted in the 6-month follow-up of our patient. Dr. Aghel is a Research Associate in the Department of Otolaryngology – Head and Neck Surgery at the University of California San Francisco Mt. Zion Cancer Center in San Francisco, CA. Dr. Khachemoune, the Section Editor of Derm Dx, is with Department of Dermatology, State University of New York, Brooklyn, NY. Disclosure: The authors have no real or apparent conflicts of interest to disclose.
A 48-year-old African-American woman was referred to the dermatology clinic for the evaluation of a tender nodule on her right lower extremity. The patient stated that the nodule had been present for the previous 2 years during which there was a slight but steady increase in size and tenderness. A biopsy taken from the nodule a year prior led to a morphea diagnosis, and high potency topical steroids were prescribed. However, when the patient did not notice any changes from that treatment, she sought a second opinion at our clinic. During this visit, the physical examination revealed a 2.5 cm x 2.5 cm firm and tender deep dermal to subcutaneous nodule. The nodule was freely movable and there was slight discoloration of the overlying skin. An excisional biopsy was performed.
What is Your Diagnosis?
Diagnosis: Angioleiomyoma
Angioleiomyomas are relatively uncommon benign smooth muscle tumors that arise from the tunica media of the veins and small arteries.1,2 This type of tumor is commonly seen in deep dermal and subcutaneous tissues and was first reported by Aufrecht in 1868 as a definitive diagnosis.3
Clinical Presentation
Angioleiomyomas most commonly occur in the deep dermal and subcutaneous tissue of the extremities, especially on the extensor surfaces of the lower extremities. Less common locations include the head or the trunk. 1,4 They can also occur in rare locations such as the mediastinum, tendons, sellar region and larynx.5,6,7,8 Angioleiomyomas commonly present in females in their fourth, fifth or sixth decade as solitary and well-defined palpable dermal nodules. These tumors have a male to female ratio of 1:1.7.1,9 Angioleiomyomas with a 12 cm x 10 cm size have been reported, but up to 78% of these tumors are less than 2 cm in diameter. 1,10 Their size decreases significantly with increasing patient age and may undergo slow increases in size over a period of time. 11,12 The tumors may also diminish in size with the initiation of pain.1,12 There are three types of angioleiomyomas: cavernous, solid and venous. Cavernous angioleiomyomas have dilated vascular channels with less smooth muscle; venous angioleiomyomas have thick vascular walls with less smooth muscle; and solid angioleiomyomas have compacted smooth muscle with small vascular channels.13 The solid type of angioleiomyoma is the most common and occurs three times more in females than males and tends to occur in the lower extremities. The cavernous and venous type are more common in males, with the cavernous type seen mainly in the upper extremities and the venous type seen mainly on the head. The average duration prior to excision of the solid, cavernous and venous types are 4, 5 and 7 years, respectively. Up to 60% of angioleiomyomas present as a painful lesion with a paroxysmal nature. They become worse with a light touch, cold, wind, exercise, menstruation and even pregnancy. Painful lesions may initially present as painless tumors, but once they become painful, the pain generally becomes worse in time.1,12 Nerve fibers have been identified within the parenchyma of angioleiomyomas and the pain occurring in these tumors could be due to the nerve fiber irritation. 14 Local ischemia from vessel contraction has also been suggested as the cause of pain.1 Low mast cell density in painful angioleiomyomas could suggest that mast cell degranulation is increased in these painful tumors.15 Bone destruction and medullary canal invasion by an angioleiomyoma is a very rare presentation, but has been reported in a number of cases occurring in the digits.16
Histology
On macroscopic examination, angioleiomyomas are round or oval encapsulated tumors with gray-white or brown cut surfaces that have a firm or rubbery consistency.1,9 Histologically they are composed of blood vessels with muscular walls, out of which the muscular cells grow and fuse with fascicles of smooth muscle of which they become a part. 9 Angioleiomyomas are histologically classified into solid, venous and cavernous types. sup>17 There are also some rare histopathologic varients that include epithelioid angioleiomyomas, palisaded angioleiomyomas, intravascular angioleiomyomas, pleomorphic angioleiomyomas, and acral calcified angioleiomyomas. 18,19,20 Cytology Benign smooth muscle cells and benign uniform spindle cells are the common cytological features of angioleiomyomas. These findings are not sufficient for the diagnosis but are helpful for eliminating some of characteristic cytological features in the differential diagnosis.21 Immunohistochemistry Immunohistochemically, angioleiomyomas are positive for actin, desmin and type IV collagen.18 CD34 positive stromal cells are not seen within the stromal cells of angioleiomyomas, but are present at the borders of the tumor. This may be associated with the distinctive tumor morphology.22 Pathogenesis and Genetics Epstein-Barr virus (EBV) genome was detected in a patient with acquired immunodeficiency syndrome presenting with multiple subcutaneous angioleiomyomas. To confirm the role of EBV in the pathogenesis of angioleiomyoma, more studies are needed.23 A number of angioleiomyomas have DNA copy number changes mainly on ch22 and Xq. There have also been reports of other chromosomal abnormalities in the past, which suggest that specific chromosomal regions may contain genes responsible for the development of some angioleiomyomas.24
Imaging
MRI and sonographic examinations of angioleiomyomas have been studied as methods of diagnosis, but their findings are not sufficient for a definitive diagnosis.25, 26 Three dimensional magnetic resonance angiography (3D-MRA) can provide useful information about the feeder arteries of the tumor and TC-99m RBC perfusion and blood-pool scintigraphy can be used to evaluate the exact extent of the tumor, but none can provide enough information for the diagnosis of vascular leiomyoma.10, 27
Differential Diagnosis
The differential diagnosis should consider the following: Piloleiomyomas — These can present as movable solitary or multiple intradermal nodules. They are usually painful and occur commonly on extensor surfaces of extremities. Myofibromas — These can present as a solitary, movable and nontender nodules on the skin. They are most commonly seen on the head and neck region. Leiomyosarcomas — Cutaneous leiomyosarcomas usually present as painful solitary nodules on the extremities, with changes like discoloration, ulceration and crusting occurring on the overlying skin. A subcutaneous leiomyosarcoma can present as a painful, movable subcutaneous mass with fewer changes occurring on the overlying skin. Glomus tumors — These are small, painful benign tumors that occur on the extremities and are most commonly seen under and around the nails, where angioleiomyomas do not occur. Foreign body granuloma — Foreign body granuloma is a tissue reaction to retained foreign bodies after skin-penetrating trauma; without a history of trauma, it can be mistaken for a soft tissue mass. Hemangioma — Hemangioma is a benign vascular proliferation that presents as a small fast-growing red nodule. Nodular fasciitis — These benign, movable subcutaneous tumors are most commonly seen on the upper extremities and are usually less than 3 cm in size. Fibrous histiocytoma — The benign form presents as a painless, small and slowly growing lump that arises from the skin and subcutaneous tissue. Schwannomas — These benign tumors arise within a nerve trunk, and present as a painful swelling that is only movable from side to side and not in the vertical axis. Pseudoaneurysm — Such a false aneurysm can present as a firm and tender mass. In some cases, it can be mistaken for a soft tissue tumor.
Management and Outcome
The treatment of choice for solitary angioleiomyomas is surgical excision. 12,18 Depending on the location of the angioleiomyoma, preoperative embolization of the main tumor vessel can reduce the excessive blood loss during surgery.28 There is usually no reoccurrence or malignant transformation of the tumor, but there have been reports of such.1,29 Our patient’s tumor was treated in the office with surgical excision. No complications occurred during the procedure and she was satisfied with the surgical outcome. No reoccurrence was noted in the 6-month follow-up of our patient. Dr. Aghel is a Research Associate in the Department of Otolaryngology – Head and Neck Surgery at the University of California San Francisco Mt. Zion Cancer Center in San Francisco, CA. Dr. Khachemoune, the Section Editor of Derm Dx, is with Department of Dermatology, State University of New York, Brooklyn, NY. Disclosure: The authors have no real or apparent conflicts of interest to disclose.
A 48-year-old African-American woman was referred to the dermatology clinic for the evaluation of a tender nodule on her right lower extremity. The patient stated that the nodule had been present for the previous 2 years during which there was a slight but steady increase in size and tenderness. A biopsy taken from the nodule a year prior led to a morphea diagnosis, and high potency topical steroids were prescribed. However, when the patient did not notice any changes from that treatment, she sought a second opinion at our clinic. During this visit, the physical examination revealed a 2.5 cm x 2.5 cm firm and tender deep dermal to subcutaneous nodule. The nodule was freely movable and there was slight discoloration of the overlying skin. An excisional biopsy was performed.
What is Your Diagnosis?
Diagnosis: Angioleiomyoma
Angioleiomyomas are relatively uncommon benign smooth muscle tumors that arise from the tunica media of the veins and small arteries.1,2 This type of tumor is commonly seen in deep dermal and subcutaneous tissues and was first reported by Aufrecht in 1868 as a definitive diagnosis.3
Clinical Presentation
Angioleiomyomas most commonly occur in the deep dermal and subcutaneous tissue of the extremities, especially on the extensor surfaces of the lower extremities. Less common locations include the head or the trunk. 1,4 They can also occur in rare locations such as the mediastinum, tendons, sellar region and larynx.5,6,7,8 Angioleiomyomas commonly present in females in their fourth, fifth or sixth decade as solitary and well-defined palpable dermal nodules. These tumors have a male to female ratio of 1:1.7.1,9 Angioleiomyomas with a 12 cm x 10 cm size have been reported, but up to 78% of these tumors are less than 2 cm in diameter. 1,10 Their size decreases significantly with increasing patient age and may undergo slow increases in size over a period of time. 11,12 The tumors may also diminish in size with the initiation of pain.1,12 There are three types of angioleiomyomas: cavernous, solid and venous. Cavernous angioleiomyomas have dilated vascular channels with less smooth muscle; venous angioleiomyomas have thick vascular walls with less smooth muscle; and solid angioleiomyomas have compacted smooth muscle with small vascular channels.13 The solid type of angioleiomyoma is the most common and occurs three times more in females than males and tends to occur in the lower extremities. The cavernous and venous type are more common in males, with the cavernous type seen mainly in the upper extremities and the venous type seen mainly on the head. The average duration prior to excision of the solid, cavernous and venous types are 4, 5 and 7 years, respectively. Up to 60% of angioleiomyomas present as a painful lesion with a paroxysmal nature. They become worse with a light touch, cold, wind, exercise, menstruation and even pregnancy. Painful lesions may initially present as painless tumors, but once they become painful, the pain generally becomes worse in time.1,12 Nerve fibers have been identified within the parenchyma of angioleiomyomas and the pain occurring in these tumors could be due to the nerve fiber irritation. 14 Local ischemia from vessel contraction has also been suggested as the cause of pain.1 Low mast cell density in painful angioleiomyomas could suggest that mast cell degranulation is increased in these painful tumors.15 Bone destruction and medullary canal invasion by an angioleiomyoma is a very rare presentation, but has been reported in a number of cases occurring in the digits.16
Histology
On macroscopic examination, angioleiomyomas are round or oval encapsulated tumors with gray-white or brown cut surfaces that have a firm or rubbery consistency.1,9 Histologically they are composed of blood vessels with muscular walls, out of which the muscular cells grow and fuse with fascicles of smooth muscle of which they become a part. 9 Angioleiomyomas are histologically classified into solid, venous and cavernous types. sup>17 There are also some rare histopathologic varients that include epithelioid angioleiomyomas, palisaded angioleiomyomas, intravascular angioleiomyomas, pleomorphic angioleiomyomas, and acral calcified angioleiomyomas. 18,19,20 Cytology Benign smooth muscle cells and benign uniform spindle cells are the common cytological features of angioleiomyomas. These findings are not sufficient for the diagnosis but are helpful for eliminating some of characteristic cytological features in the differential diagnosis.21 Immunohistochemistry Immunohistochemically, angioleiomyomas are positive for actin, desmin and type IV collagen.18 CD34 positive stromal cells are not seen within the stromal cells of angioleiomyomas, but are present at the borders of the tumor. This may be associated with the distinctive tumor morphology.22 Pathogenesis and Genetics Epstein-Barr virus (EBV) genome was detected in a patient with acquired immunodeficiency syndrome presenting with multiple subcutaneous angioleiomyomas. To confirm the role of EBV in the pathogenesis of angioleiomyoma, more studies are needed.23 A number of angioleiomyomas have DNA copy number changes mainly on ch22 and Xq. There have also been reports of other chromosomal abnormalities in the past, which suggest that specific chromosomal regions may contain genes responsible for the development of some angioleiomyomas.24
Imaging
MRI and sonographic examinations of angioleiomyomas have been studied as methods of diagnosis, but their findings are not sufficient for a definitive diagnosis.25, 26 Three dimensional magnetic resonance angiography (3D-MRA) can provide useful information about the feeder arteries of the tumor and TC-99m RBC perfusion and blood-pool scintigraphy can be used to evaluate the exact extent of the tumor, but none can provide enough information for the diagnosis of vascular leiomyoma.10, 27
Differential Diagnosis
The differential diagnosis should consider the following: Piloleiomyomas — These can present as movable solitary or multiple intradermal nodules. They are usually painful and occur commonly on extensor surfaces of extremities. Myofibromas — These can present as a solitary, movable and nontender nodules on the skin. They are most commonly seen on the head and neck region. Leiomyosarcomas — Cutaneous leiomyosarcomas usually present as painful solitary nodules on the extremities, with changes like discoloration, ulceration and crusting occurring on the overlying skin. A subcutaneous leiomyosarcoma can present as a painful, movable subcutaneous mass with fewer changes occurring on the overlying skin. Glomus tumors — These are small, painful benign tumors that occur on the extremities and are most commonly seen under and around the nails, where angioleiomyomas do not occur. Foreign body granuloma — Foreign body granuloma is a tissue reaction to retained foreign bodies after skin-penetrating trauma; without a history of trauma, it can be mistaken for a soft tissue mass. Hemangioma — Hemangioma is a benign vascular proliferation that presents as a small fast-growing red nodule. Nodular fasciitis — These benign, movable subcutaneous tumors are most commonly seen on the upper extremities and are usually less than 3 cm in size. Fibrous histiocytoma — The benign form presents as a painless, small and slowly growing lump that arises from the skin and subcutaneous tissue. Schwannomas — These benign tumors arise within a nerve trunk, and present as a painful swelling that is only movable from side to side and not in the vertical axis. Pseudoaneurysm — Such a false aneurysm can present as a firm and tender mass. In some cases, it can be mistaken for a soft tissue tumor.
Management and Outcome
The treatment of choice for solitary angioleiomyomas is surgical excision. 12,18 Depending on the location of the angioleiomyoma, preoperative embolization of the main tumor vessel can reduce the excessive blood loss during surgery.28 There is usually no reoccurrence or malignant transformation of the tumor, but there have been reports of such.1,29 Our patient’s tumor was treated in the office with surgical excision. No complications occurred during the procedure and she was satisfied with the surgical outcome. No reoccurrence was noted in the 6-month follow-up of our patient. Dr. Aghel is a Research Associate in the Department of Otolaryngology – Head and Neck Surgery at the University of California San Francisco Mt. Zion Cancer Center in San Francisco, CA. Dr. Khachemoune, the Section Editor of Derm Dx, is with Department of Dermatology, State University of New York, Brooklyn, NY. Disclosure: The authors have no real or apparent conflicts of interest to disclose.
