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Body Part: Torso

Leukemia Cutis

Leukemia Cutis

Definition: Leukemia cutis (LC) is a rare condition that refers to cutaneous infiltration of neoplastic leukocytes due to peripheral leukemia. 

Etiology: The etiology of any leukemia can be attributed to genetic and environmental risk factors that promote the expression of neoplastic cells. The proposed etiology of LC involved mechanisms of various chemokines and molecular expression on leukemic cells mediating their migration to the skin through skin0 selective homing processes. Environmental risk factors include benzene exposure, ionizing radiation, viral and alkylating agents. Aneuploidy of chromosome 8, translocation of chromosome 3 and (6;9) have been observed in patients with LC. It has been reported that all-trans retinoic acid to treat promyelocytic leukemia may increase the risk of cutaneous involvement.

Epidemiology: Exact data on the incidence and specific predilections of LC are unknown. It is believed that LC may affect approximately 3% of individuals with leukemia. However, individuals with adult T- cell leukemia/ lymphoma are more likely to develop LC. Up to 30% of children with congenital leukemia are more likely to develop LC. The subtypes of leukemia that commonly affect the skin are chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML). Cutaneous involvement and the development of chloromas are typically indicative of advanced illness.

Signs: LC clinical presentation varies, and may be localized or disseminated and occur alone or in combination on any skin site. LC lesions favor previous sites of injury. LC lesions often appear as firm papules, nodules and plaques that are firm or rubbery in consistency. They may range in color from skin- coloured to erythematous to violaceous. In rare cases yellow, blue and gray lesions may be observed. LC lesions may also present with erythroderma, annular erythema, purpura, petechiae, ulceration, gingivitis/ gingival hyperplasia (AML). in infants, LC is a cause of “blueberry muffin syndrome”

Symptoms: LC lesions are usually not purritic or tender.

Differentials:  Lymphoma and pseudolymphoma, metastatic solid tumors, pyoderma gangrenosum, urticaria, vasculitis

Diagnosis: LC[1]  must be diagnosed using a skin biopsy, which will reveal a diffuse infiltration of malignant leukocytes in the dermis of the skin. Further histochemistry may reveal the specific cell type involved.

Treatment: Care of LC is directed towards addressing the underlying leukemia. Treatment includes electron beam, therapy, localized radiation and phototherapy.

References:

1.     Parsi M, Go MS, Ahmed A. Leukemia Cutis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; July 17, 2023.

2.     Leukemia cutis | DermNet. dermnetnz.org. https://dermnetnz.org/topics/leukaemia-cutis

Leiomyosarcoma

Leiomyosarcoma

Definition: Leiomyosarcoma is an aggressive mesenchymal malignancy and one of the most common subtypes of sarcoma. Leiomyosarcoma typically occurs in the retroperitoneum, uterus and extremities.

Etiology: Leiomyosarcoma is a heterogeneous disease primarily associated with RB1 and PTEN tumor suppressor gene mutations. The definitive cause for leiomyosarcoma is unknown, but risk factors have been associated with developing other soft tissue sarcomas. Radiation exposure, radiotherapy, genetic syndromes such as retinoblastoma and Li- Frarumeni syndrome have been highlighted as risk factors.

Epidemiology: Leiomyosarcoma accounts for 10- 20% of newly diagnosed soft tissue sarcomas and 80% of uterine sarcomas. The incidence of leiomyosarcoma increases with age, peaking at the 7th decade of life. Uterine leiomyosarcoma most commonly occurs in perimenopausal women. Retroperitoneal leiomyosarcoma is more common in women. Studies have reported that the incidence rates of leiomyosarcoma are substantially higher (IRR > 1.60) in Non- Hispanic Black people.

Signs: Clinical presentation of leiomyosarcoma is variable and depends on the location. 

Symptoms: Symptoms associated with leiomyosarcoma are associated with the compression of surrounding organs. These include unexplained weight loss, changes in bowel habits and pain and discomfort.

Differentials: Meningioma, GIST, leiomyoma, Spindle cell squamous cell carcinoma, malignant peripheral nerve sheath tumor

Diagnosis: Initial imaging involves computed tomography or magnetic resonance imaging scans. An image- guided core needle biopsy is required for diagnosis. Morphological diagnosis based on microscopic examination is the gold standard. Histology of leiomyosarcoma will show a poorly circumscribed nodule that may be dermal based, or in the subcutaneous form. Leiomyosarcoma consists of spindle cell proliferation, with “cigar- shaped nuclei”, which form rough bundles and fascicles.

Treatment: Treatment is dependent on the size, grade and location of the lesion. Surgery is regarded as the curative therapy, in conjunction with radiation and/ or chemotherapy.

References:

  1. Menon G, Mangla A, Yadav U. Leiomyosarcoma. In: StatPearls. Treasure Island (FL): StatPearls Publishing; February 28, 2024.
  2. Leiomyosarcoma pathology | DermNet. dermnetnz.org. https://dermnetnz.org/topics/leiomyosarcoma-pathology
  3. Diessner BJ, Weigel BJ, Murugan P, Zhang L, Poynter JN, Spector LG. Racial and Ethnic Differences in Sarcoma Incidence Are Independent of Census-Tract Socioeconomic Status. Cancer Epidemiol Biomarkers Prev. 2020;29(11):2141-2148. doi:10.1158/1055-9965.EPI-20-0520

Leiomyosarcoma

Leiomyosarcoma

Definition: Leiomyosarcoma is an aggressive mesenchymal malignancy and one of the most common subtypes of sarcoma. Leiomyosarcoma typically occurs in the retroperitoneum, uterus and extremities.

Etiology: Leiomyosarcoma is a heterogeneous disease primarily associated with RB1 and PTEN tumor suppressor gene mutations. The definitive cause for leiomyosarcoma is unknown, but risk factors have been associated with developing other soft tissue sarcomas. Radiation exposure, radiotherapy, genetic syndromes such as retinoblastoma and Li- Frarumeni syndrome have been highlighted as risk factors.

Epidemiology: Leiomyosarcoma accounts for 10- 20% of newly diagnosed soft tissue sarcomas and 80% of uterine sarcomas. The incidence of leiomyosarcoma increases with age, peaking at the 7th decade of life. Uterine leiomyosarcoma most commonly occurs in perimenopausal women. Retroperitoneal leiomyosarcoma is more common in women. Studies have reported that the incidence rates of leiomyosarcoma are substantially higher (IRR > 1.60) in Non- Hispanic Black people.

Signs: Clinical presentation of leiomyosarcoma is variable and depends on the location. 

Symptoms: Symptoms associated with leiomyosarcoma are associated with the compression of surrounding organs. These include unexplained weight loss, changes in bowel habits and pain and discomfort.

Differentials: Meningioma, GIST, leiomyoma, Spindle cell squamous cell carcinoma, malignant peripheral nerve sheath tumor

Diagnosis: Initial imaging involves computed tomography or magnetic resonance imaging scans. An image- guided core needle biopsy is required for diagnosis. Morphological diagnosis based on microscopic examination is the gold standard. Histology of leiomyosarcoma will show a poorly circumscribed nodule that may be dermal based, or in the subcutaneous form. Leiomyosarcoma consists of spindle cell proliferation, with “cigar- shaped nuclei”, which form rough bundles and fascicles.

Treatment: Treatment is dependent on the size, grade and location of the lesion. Surgery is regarded as the curative therapy, in conjunction with radiation and/ or chemotherapy.

References:

  1. Menon G, Mangla A, Yadav U. Leiomyosarcoma. In: StatPearls. Treasure Island (FL): StatPearls Publishing; February 28, 2024.
  2. Leiomyosarcoma pathology | DermNet. dermnetnz.org. https://dermnetnz.org/topics/leiomyosarcoma-pathology
  3. Diessner BJ, Weigel BJ, Murugan P, Zhang L, Poynter JN, Spector LG. Racial and Ethnic Differences in Sarcoma Incidence Are Independent of Census-Tract Socioeconomic Status. Cancer Epidemiol Biomarkers Prev. 2020;29(11):2141-2148. doi:10.1158/1055-9965.EPI-20-0520

Keloid

Keloid

Definition: Keloids are hypertrophic, smooth, hard growths or scars that occur on the skin as a result of excessive scar formation. Keloids may rarely occur spontaneously. They may develop on any part of the body and extend beyond the original wound margins. The upper chest, shoulders, ears and neck are especially prone to keloid scar development.

Etiology: Keloids result from abnormal wound healing in response to skin trauma or inflammation. Their development is dependent on genetic or environmental factors. Keloids are most common in wounds that heal by secondary intention and can arise months to years following injury. The pathogenesis may involve dysregulation of the normal healing process, resulting in excessive production of collagen, elastin, proteoglycans and extracellular matrix proteins. In keloid scars, there is a defect in growth factors and cytokines, with increased TNF-alpha, interferon- beta and interleukin- 6.

Epidemiology: There is a higher incidence of keloids in darker-skinned individuals of African, Asian and Hispanic descent (Fitzpatrick skin types III-VI). Caucasian and Albino individuals appear to be less affected. A genetic association with HLA haplotypes and blood group A has also been identified. Spontaneously arising keloids have been associated with a variety of conditions like Noonan syndrome and Rubinstein-Taybi syndrome.

Signs: Keloid scars are benign, derma growths that may appear 1- 12 months following injury. They can develop anywhere but most commonly appear on the deltoid, pre- sternal chest, upper back and ear.  They present as firm, rubbery nodules which project above the underlying skin further than 4 millimeters. They may be pedunculated, or develop into a broad-base plaque. Colour ranges from flesh-coloured, erythematous or hyperpigmented and may change with the evolution of the lesion. 

Symptoms: Keloids are benign but frequently symptomatic. Patients may experience pruritus, pain, tenderness and burning.

Differentials: Hypertrophic scars, dermatofibroma, dermatofibrosarcoma protuberans, keloidal variants (morphea and scleroderma), xanthoma disseminatum, lobomycosis.

Diagnosis: Diagnosis of a keloid is primarily clinical based on the history and features. A biopsy is not required unless the diagnosis is unclear. 

Treatment: Primary prevention is key. Keloids are difficult to treat as incomplete therapy may result in worsening and growth of the scar. Several modalities alleviate symptoms of existing keloids such as intralesional corticosteroids, cryotherapy, surgical excision, radiotherapy and laser therapy. 

References:

1.     Keloids and hypertrophic scars | DermNet NZ. dermnetnz.org. https://dermnetnz.org/topics/keloid-and-hypertrophic-scar

2.     McGinty S, Siddiqui WJ. Keloid. In: StatPearls. Treasure Island (FL): StatPearls Publishing; July 17, 2023.

Keloid

Keloid

Definition: Keloids are hypertrophic, smooth, hard growths or scars that occur on the skin as a result of excessive scar formation. Keloids may rarely occur spontaneously. They may develop on any part of the body and extend beyond the original wound margins. The upper chest, shoulders, ears and neck are especially prone to keloid scar development.

Etiology: Keloids result from abnormal wound healing in response to skin trauma or inflammation. Their development is dependent on genetic or environmental factors. Keloids are most common in wounds that heal by secondary intention and can arise months to years following injury. The pathogenesis may involve dysregulation of the normal healing process, resulting in excessive production of collagen, elastin, proteoglycans and extracellular matrix proteins. In keloid scars, there is a defect in growth factors and cytokines, with increased TNF-alpha, interferon- beta and interleukin- 6.

Epidemiology: There is a higher incidence of keloids in darker-skinned individuals of African, Asian and Hispanic descent (Fitzpatrick skin types III-VI). Caucasian and Albino individuals appear to be less affected. A genetic association with HLA haplotypes and blood group A has also been identified. Spontaneously arising keloids have been associated with a variety of conditions like Noonan syndrome and Rubinstein-Taybi syndrome.

Signs: Keloid scars are benign, derma growths that may appear 1- 12 months following injury. They can develop anywhere but most commonly appear on the deltoid, pre- sternal chest, upper back and ear.  They present as firm, rubbery nodules which project above the underlying skin further than 4 millimeters. They may be pedunculated, or develop into a broad-base plaque. Colour ranges from flesh-coloured, erythematous or hyperpigmented and may change with the evolution of the lesion. 

Symptoms: Keloids are benign but frequently symptomatic. Patients may experience pruritus, pain, tenderness and burning.

Differentials: Hypertrophic scars, dermatofibroma, dermatofibrosarcoma protuberans, keloidal variants (morphea and scleroderma), xanthoma disseminatum, lobomycosis.

Diagnosis: Diagnosis of a keloid is primarily clinical based on the history and features. A biopsy is not required unless the diagnosis is unclear. 

Treatment: Primary prevention is key. Keloids are difficult to treat as incomplete therapy may result in worsening and growth of the scar. Several modalities alleviate symptoms of existing keloids such as intralesional corticosteroids, cryotherapy, surgical excision, radiotherapy and laser therapy. 

References:

1.     Keloids and hypertrophic scars | DermNet NZ. dermnetnz.org. https://dermnetnz.org/topics/keloid-and-hypertrophic-scar

2.     McGinty S, Siddiqui WJ. Keloid. In: StatPearls. Treasure Island (FL): StatPearls Publishing; July 17, 2023.

Keloid

Keloid

Definition: Keloids are hypertrophic, smooth, hard growths or scars that occur on the skin as a result of excessive scar formation. Keloids may rarely occur spontaneously. They may develop on any part of the body and extend beyond the original wound margins. The upper chest, shoulders, ears and neck are especially prone to keloid scar development.

Etiology: Keloids result from abnormal wound healing in response to skin trauma or inflammation. Their development is dependent on genetic or environmental factors. Keloids are most common in wounds that heal by secondary intention and can arise months to years following injury. The pathogenesis may involve dysregulation of the normal healing process, resulting in excessive production of collagen, elastin, proteoglycans and extracellular matrix proteins. In keloid scars, there is a defect in growth factors and cytokines, with increased TNF-alpha, interferon- beta and interleukin- 6.

Epidemiology: There is a higher incidence of keloids in darker-skinned individuals of African, Asian and Hispanic descent (Fitzpatrick skin types III-VI). Caucasian and Albino individuals appear to be less affected. A genetic association with HLA haplotypes and blood group A has also been identified. Spontaneously arising keloids have been associated with a variety of conditions like Noonan syndrome and Rubinstein-Taybi syndrome.

Signs: Keloid scars are benign, derma growths that may appear 1- 12 months following injury. They can develop anywhere but most commonly appear on the deltoid, pre- sternal chest, upper back and ear.  They present as firm, rubbery nodules which project above the underlying skin further than 4 millimeters. They may be pedunculated, or develop into a broad-base plaque. Colour ranges from flesh-coloured, erythematous or hyperpigmented and may change with the evolution of the lesion. 

Symptoms: Keloids are benign but frequently symptomatic. Patients may experience pruritus, pain, tenderness and burning.

Differentials: Hypertrophic scars, dermatofibroma, dermatofibrosarcoma protuberans, keloidal variants (morphea and scleroderma), xanthoma disseminatum, lobomycosis.

Diagnosis: Diagnosis of a keloid is primarily clinical based on the history and features. A biopsy is not required unless the diagnosis is unclear. 

Treatment: Primary prevention is key. Keloids are difficult to treat as incomplete therapy may result in worsening and growth of the scar. Several modalities alleviate symptoms of existing keloids such as intralesional corticosteroids, cryotherapy, surgical excision, radiotherapy and laser therapy. 

References:

1.     Keloids and hypertrophic scars | DermNet NZ. dermnetnz.org. https://dermnetnz.org/topics/keloid-and-hypertrophic-scar

2.     McGinty S, Siddiqui WJ. Keloid. In: StatPearls. Treasure Island (FL): StatPearls Publishing; July 17, 2023.

Bullous Pemphigoid

Bullous Pemphigoid

Definition: Bullous Pemphigoid is a chronic autoimmune bullous disease that is characterized by tense bullae on normal or erythematous skin (1).

Etiology: Bullous Pemphigoid is caused by autoantibodies against hemidesmosomal proteins BP180 (type XVII collagen) and BP230 that lead to the production of subepidermal blisters (1).

Epidemiology: Bullous Pemphigoid is the most common autoimmune subepidermal blistering condition  and it commonly affects older adults usually above 70 years old(1,2).

Signs: It is characterized by severe pruritus along with tense blisters over urticaria plaques typically seen in the limbs and trunks (1). It is not typically seen in mucosal areas (1). 

Symptoms: Patients typically face intense pruritus and discomfort or pain at the site of active lesions (1,2).

Differentials: Pemphigus foliaceus, pemphigus herpetiformis, bullous lupus erythematosus, eczema, urticaria, prurigo, impetigo, erythema multiforme, Sweet syndrome, toxic epidermal necrolysis, and autotoxic pruritus (1).

Diagnosis: The diagnosis is based on three factors; histopathological evaluation showing eosinophilic spongiosis or a subepidermal detachment with eosinophils, use of direct or indirect immunofluorescence assays to detect IgG and/or C3 deposition at the basement membrane and ELISA measurement of circulating autoantibodies (1).

Treatment: The treatment is based on the patient’s clinical status and disease severity  (1). Systemic and topical high potency steroids are the current treatment options (1).

References: (AMA)

1.      Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

  1. Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

Bullous Pemphigoid

Bullous Pemphigoid

Definition: Bullous Pemphigoid is a chronic autoimmune bullous disease that is characterized by tense bullae on normal or erythematous skin (1).

Etiology: Bullous Pemphigoid is caused by autoantibodies against hemidesmosomal proteins BP180 (type XVII collagen) and BP230 that lead to the production of subepidermal blisters (1).

Epidemiology: Bullous Pemphigoid is the most common autoimmune subepidermal blistering condition  and it commonly affects older adults usually above 70 years old(1,2).

Signs: It is characterized by severe pruritus along with tense blisters over urticaria plaques typically seen in the limbs and trunks (1). It is not typically seen in mucosal areas (1). 

Symptoms: Patients typically face intense pruritus and discomfort or pain at the site of active lesions (1,2).

Differentials: Pemphigus foliaceus, pemphigus herpetiformis, bullous lupus erythematosus, eczema, urticaria, prurigo, impetigo, erythema multiforme, Sweet syndrome, toxic epidermal necrolysis, and autotoxic pruritus (1).

Diagnosis: The diagnosis is based on three factors; histopathological evaluation showing eosinophilic spongiosis or a subepidermal detachment with eosinophils, use of direct or indirect immunofluorescence assays to detect IgG and/or C3 deposition at the basement membrane and ELISA measurement of circulating autoantibodies (1).

Treatment: The treatment is based on the patient’s clinical status and disease severity  (1). Systemic and topical high potency steroids are the current treatment options (1).

References: (AMA)

1.      Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

  1. Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

Bullous Pemphigoid

Bullous Pemphigoid

Definition: Bullous Pemphigoid is a chronic autoimmune bullous disease that is characterized by tense bullae on normal or erythematous skin (1).

Etiology: Bullous Pemphigoid is caused by autoantibodies against hemidesmosomal proteins BP180 (type XVII collagen) and BP230 that lead to the production of subepidermal blisters (1).

Epidemiology: Bullous Pemphigoid is the most common autoimmune subepidermal blistering condition  and it commonly affects older adults usually above 70 years old(1,2).

Signs: It is characterized by severe pruritus along with tense blisters over urticaria plaques typically seen in the limbs and trunks (1). It is not typically seen in mucosal areas (1). 

Symptoms: Patients typically face intense pruritus and discomfort or pain at the site of active lesions (1,2).

Differentials: Pemphigus foliaceus, pemphigus herpetiformis, bullous lupus erythematosus, eczema, urticaria, prurigo, impetigo, erythema multiforme, Sweet syndrome, toxic epidermal necrolysis, and autotoxic pruritus (1).

Diagnosis: The diagnosis is based on three factors; histopathological evaluation showing eosinophilic spongiosis or a subepidermal detachment with eosinophils, use of direct or indirect immunofluorescence assays to detect IgG and/or C3 deposition at the basement membrane and ELISA measurement of circulating autoantibodies (1).

Treatment: The treatment is based on the patient’s clinical status and disease severity  (1). Systemic and topical high potency steroids are the current treatment options (1).

References: (AMA)

1.      Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

  1. Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

Bullous Pemphigoid

Bullous Pemphigoid

Definition: Bullous Pemphigoid is a chronic autoimmune bullous disease that is characterized by tense bullae on normal or erythematous skin (1).

Etiology: Bullous Pemphigoid is caused by autoantibodies against hemidesmosomal proteins BP180 (type XVII collagen) and BP230 that lead to the production of subepidermal blisters (1).

Epidemiology: Bullous Pemphigoid is the most common autoimmune subepidermal blistering condition  and it commonly affects older adults usually above 70 years old(1,2).

Signs: It is characterized by severe pruritus along with tense blisters over urticaria plaques typically seen in the limbs and trunks (1). It is not typically seen in mucosal areas (1). 

Symptoms: Patients typically face intense pruritus and discomfort or pain at the site of active lesions (1,2).

Differentials: Pemphigus foliaceus, pemphigus herpetiformis, bullous lupus erythematosus, eczema, urticaria, prurigo, impetigo, erythema multiforme, Sweet syndrome, toxic epidermal necrolysis, and autotoxic pruritus (1).

Diagnosis: The diagnosis is based on three factors; histopathological evaluation showing eosinophilic spongiosis or a subepidermal detachment with eosinophils, use of direct or indirect immunofluorescence assays to detect IgG and/or C3 deposition at the basement membrane and ELISA measurement of circulating autoantibodies (1).

Treatment: The treatment is based on the patient’s clinical status and disease severity  (1). Systemic and topical high potency steroids are the current treatment options (1).

References: (AMA)

1.      Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007 

  1. Miyamoto D, Santi CG, Aoki V, Maruta CW. Bullous pemphigoid. Anais Brasileiros de Dermatologia. 2019;94(2):133-146. doi:10.1590/abd1806-4841.20199007