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Skin Type: 2

  • Benign Familial Pemphigus (Hailey Hailey Disease)

    Benign Familial Pemphigus (Hailey Hailey Disease)

    Benign Familial Pemphigus (Hailey Hailey Disease)

    Definition: Benign familial pemphigus (BFP), also known as “Hailey- Hailey Disease”  is a rare autosomal dominant blistering dermatosis that was discovered in 1939.

    Etiology: BPH is a hereditary skin disorder caused by variations or mutations in the ATP2C1 gene. This gene is found on chromosome 3q21-24 and is responsible for encoding the protein hSPCA1 (Human Secretory-Pathway Ca2+/Mn2+-ATPase Isoform 1) localized at the Golgi apparatus. These are primarily loss-of-function mutations. Due to resulting insufficient calcium, keratinocytes cannot stick together due to improper desmosome assembly. 15- 30% of cases are due to sporadic gene mutations or undiagnosed disease in other family members. 

    Epidemiology: The prevalence of BFP is estimated to be 1/50.000. There is no clear predilection for the sexes or any ethnic groups. Clinical findings of BFP typically present in the third and fourth decades of life.

    Signs: Studies suggest that environmental factors and genetic modification may alter the way BFP is expressed clinically. Lesions typically present as symmetrical crusted skin rashes involving the intertriginous regions, inframammary folds and the vulva (female), and rarely, the conjunctival, oral, esophageal, and vaginal mucosa. On fair skin tones, this irregular pattern has pink and white areas separated by pink furrows “cloud pattern”. On deeper skin tones, irregular brown-grayish-black areas with a “crumpled fabric pattern” and crusting may be evident.

    Symptoms: BFP lesions are painful and erosive. Lesions that have been present for a long time may become thickened and macerated, which can worsen pain levels. Lesions are intermittent and may discharge a foul-smelling exudate upon rupture. Patients may experience worse symptoms where heat, sweating and friction exacerbate symptoms.

    Differentials:  Darier disease, Grover disease, Candidiasis, Pemphigus vulgaris/vegetans

    Diagnosis: Diagnosis of BFP is made clinically and supported by skin histopathology. Dermoscopy may be used in early diagnosis.

    Treatment: There is no cure for BFP. Treatment focuses on alleviating symptoms and preventing flare-ups. You may be advised to avoid trigger factors such as heat and tight clothing. Topical corticosteroids and antibiotics may be prescribed to treat inflamed lesions.

    References:

    1.     Hailey-Hailey disease (benign familial pemphigus) | DermNet NZ. dermnetnz.org. https://dermnetnz.org/topics/benign-familial-pemphigus

    2.     ‌Konstantinou MP, Krasagakis K. Benign Familial Pemphigus (Hailey-Hailey Disease). In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 14, 2023.

    3.     Żychowska M, Kołt-Kamińska M, Kijowski R, Reich A. Hailey-Hailey disease exacerbated by scabies: the role of dermatoscopy in preventing misdiagnosis. Postepy Dermatol Alergol. 2023;40(4):567-570. doi:10.5114/ada.2023.130477

    4.     Ben Lagha I, Ashack K, Khachemoune A. Hailey-Hailey Disease: An Update Review with a Focus on Treatment Data. Am J Clin Dermatol. 2020;21(1):49-68. doi:10.1007/s40257-019-00477-z

  • Benign Familial Pemphigus (Hailey Hailey Disease)

    Benign Familial Pemphigus (Hailey Hailey Disease)

    Benign Familial Pemphigus (Hailey Hailey Disease)

    Definition: Benign familial pemphigus (BFP), also known as “Hailey- Hailey Disease”  is a rare autosomal dominant blistering dermatosis that was discovered in 1939.

    Etiology: BPH is a hereditary skin disorder caused by variations or mutations in the ATP2C1 gene. This gene is found on chromosome 3q21-24 and is responsible for encoding the protein hSPCA1 (Human Secretory-Pathway Ca2+/Mn2+-ATPase Isoform 1) localized at the Golgi apparatus. These are primarily loss-of-function mutations. Due to resulting insufficient calcium, keratinocytes cannot stick together due to improper desmosome assembly. 15- 30% of cases are due to sporadic gene mutations or undiagnosed disease in other family members. 

    Epidemiology: The prevalence of BFP is estimated to be 1/50.000. There is no clear predilection for the sexes or any ethnic groups. Clinical findings of BFP typically present in the third and fourth decades of life.

    Signs: Studies suggest that environmental factors and genetic modification may alter the way BFP is expressed clinically. Lesions typically present as symmetrical crusted skin rashes involving the intertriginous regions, inframammary folds and the vulva (female), and rarely, the conjunctival, oral, esophageal, and vaginal mucosa. On fair skin tones, this irregular pattern has pink and white areas separated by pink furrows “cloud pattern”. On deeper skin tones, irregular brown-grayish-black areas with a “crumpled fabric pattern” and crusting may be evident.

    Symptoms: BFP lesions are painful and erosive. Lesions that have been present for a long time may become thickened and macerated, which can worsen pain levels. Lesions are intermittent and may discharge a foul-smelling exudate upon rupture. Patients may experience worse symptoms where heat, sweating and friction exacerbate symptoms.

    Differentials:  Darier disease, Grover disease, Candidiasis, Pemphigus vulgaris/vegetans

    Diagnosis: Diagnosis of BFP is made clinically and supported by skin histopathology. Dermoscopy may be used in early diagnosis.

    Treatment: There is no cure for BFP. Treatment focuses on alleviating symptoms and preventing flare-ups. You may be advised to avoid trigger factors such as heat and tight clothing. Topical corticosteroids and antibiotics may be prescribed to treat inflamed lesions.

    References:

    1.     Hailey-Hailey disease (benign familial pemphigus) | DermNet NZ. dermnetnz.org. https://dermnetnz.org/topics/benign-familial-pemphigus

    2.     ‌Konstantinou MP, Krasagakis K. Benign Familial Pemphigus (Hailey-Hailey Disease). In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 14, 2023.

    3.     Żychowska M, Kołt-Kamińska M, Kijowski R, Reich A. Hailey-Hailey disease exacerbated by scabies: the role of dermatoscopy in preventing misdiagnosis. Postepy Dermatol Alergol. 2023;40(4):567-570. doi:10.5114/ada.2023.130477

    4.     Ben Lagha I, Ashack K, Khachemoune A. Hailey-Hailey Disease: An Update Review with a Focus on Treatment Data. Am J Clin Dermatol. 2020;21(1):49-68. doi:10.1007/s40257-019-00477-z

  • Benign Familial Pemphigus (Hailey Hailey Disease)

    Benign Familial Pemphigus (Hailey Hailey Disease)

    Benign Familial Pemphigus (Hailey Hailey Disease)

    Definition: Benign familial pemphigus (BFP), also known as “Hailey- Hailey Disease”  is a rare autosomal dominant blistering dermatosis that was discovered in 1939.

    Etiology: BPH is a hereditary skin disorder caused by variations or mutations in the ATP2C1 gene. This gene is found on chromosome 3q21-24 and is responsible for encoding the protein hSPCA1 (Human Secretory-Pathway Ca2+/Mn2+-ATPase Isoform 1) localized at the Golgi apparatus. These are primarily loss-of-function mutations. Due to resulting insufficient calcium, keratinocytes cannot stick together due to improper desmosome assembly. 15- 30% of cases are due to sporadic gene mutations or undiagnosed disease in other family members. 

    Epidemiology: The prevalence of BFP is estimated to be 1/50.000. There is no clear predilection for the sexes or any ethnic groups. Clinical findings of BFP typically present in the third and fourth decades of life.

    Signs: Studies suggest that environmental factors and genetic modification may alter the way BFP is expressed clinically. Lesions typically present as symmetrical crusted skin rashes involving the intertriginous regions, inframammary folds and the vulva (female), and rarely, the conjunctival, oral, esophageal, and vaginal mucosa. On fair skin tones, this irregular pattern has pink and white areas separated by pink furrows “cloud pattern”. On deeper skin tones, irregular brown-grayish-black areas with a “crumpled fabric pattern” and crusting may be evident.

    Symptoms: BFP lesions are painful and erosive. Lesions that have been present for a long time may become thickened and macerated, which can worsen pain levels. Lesions are intermittent and may discharge a foul-smelling exudate upon rupture. Patients may experience worse symptoms where heat, sweating and friction exacerbate symptoms.

    Differentials:  Darier disease, Grover disease, Candidiasis, Pemphigus vulgaris/vegetans

    Diagnosis: Diagnosis of BFP is made clinically and supported by skin histopathology. Dermoscopy may be used in early diagnosis.

    Treatment: There is no cure for BFP. Treatment focuses on alleviating symptoms and preventing flare-ups. You may be advised to avoid trigger factors such as heat and tight clothing. Topical corticosteroids and antibiotics may be prescribed to treat inflamed lesions.

    References:

    1.     Hailey-Hailey disease (benign familial pemphigus) | DermNet NZ. dermnetnz.org. https://dermnetnz.org/topics/benign-familial-pemphigus

    2.     ‌Konstantinou MP, Krasagakis K. Benign Familial Pemphigus (Hailey-Hailey Disease). In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 14, 2023.

    3.     Żychowska M, Kołt-Kamińska M, Kijowski R, Reich A. Hailey-Hailey disease exacerbated by scabies: the role of dermatoscopy in preventing misdiagnosis. Postepy Dermatol Alergol. 2023;40(4):567-570. doi:10.5114/ada.2023.130477

    4.     Ben Lagha I, Ashack K, Khachemoune A. Hailey-Hailey Disease: An Update Review with a Focus on Treatment Data. Am J Clin Dermatol. 2020;21(1):49-68. doi:10.1007/s40257-019-00477-z

  • Pemphigus Vulgaris

    Pemphigus Vulgaris

    Author: Shahnawaz Towheed MS2, Y, Miller-Monthrope, Dermatologist/Dermatopathologist, Toronto, Canada, 2024

    Definition: Pemphigus Vulgaris is an autoimmune blistering disorder affecting the skin and mucous membranes. 

    Epidemiology: It has an incidence of approximately 1-5 cases per million people per year and predominantly affects middle-aged and older adults, with a higher prevalence in certain ethnic groups, such as the Ashkenazi Jewish population and patients of East Indian descent. 

    Etiology: The condition is caused by autoantibodies against desmogleins, which are essential proteins in skin cell adhesion. 

    Signs/ Symptoms: Clinically, it presents with flaccid blisters and erosions, particularly in the mouth, and can progress to involve the skin. 

    Diagnosis: Diagnosis is confirmed through biopsies of involved skin and a biopsy for direct immunofluorescence of uninvolved skin, which shows IgG antibodies against the keratinocyte cell surface in a “chicken wire pattern”. 

    Treatment: The treatment typically requires high-dose corticosteroids, and immunosuppressive agents like azathioprine, and rituximab.

    Complications: The prognosis is generally favourable with appropriate management, though the condition can be chronic and require long-term treatment. Corticosteroids first used for PV in the 1950s reduced the mortality from 75% to 30%. This was further reduced to below 5% with the addition of other immunosuppressive agents introduced in the 1980s. 

    References:

    1.     Alpsoy E, Akman-Karakas A, Uzun S. Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid. Arch Dermatol Res. 2015;307(4):291-298. doi:10.1007/s00403-014-1531-1

    2.     Russo I, De Siena FP, Saponeri A, Alaibac M. Evaluation of anti-desmoglein-1 and anti-desmoglein-3 autoantibody titers in pemphigus patients at the time of the initial diagnosis and after clinical remission. Medicine (Baltimore). 2017;96(46):e8801. doi:10.1097/MD.0000000000008801

    3.     Kridin K, Sagi SZ, Bergman R. Mortality and Cause of Death in Patients with Pemphigus. Acta Derm Venereol. 2017 May 8;97(5):607-611. doi: 10.2340/00015555-2611. PMID: 28093595.

    4.     Joly P, Maho-Vaillant M, Prost-Squarcioni C, et al. First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open-label randomised trial. Lancet. 2017;389(10083):2031-2040. doi:10.1016/S0140-6736(17)30070-3

  • Pemphigus Vulgaris

    Pemphigus Vulgaris

    Author: Shahnawaz Towheed MS2, Y, Miller-Monthrope, Dermatologist/Dermatopathologist, Toronto, Canada, 2024

    Definition: Pemphigus Vulgaris is an autoimmune blistering disorder affecting the skin and mucous membranes. 

    Epidemiology: It has an incidence of approximately 1-5 cases per million people per year and predominantly affects middle-aged and older adults, with a higher prevalence in certain ethnic groups, such as the Ashkenazi Jewish population and patients of East Indian descent. 

    Etiology: The condition is caused by autoantibodies against desmogleins, which are essential proteins in skin cell adhesion. 

    Signs/ Symptoms: Clinically, it presents with flaccid blisters and erosions, particularly in the mouth, and can progress to involve the skin. 

    Diagnosis: Diagnosis is confirmed through biopsies of involved skin and a biopsy for direct immunofluorescence of uninvolved skin, which shows IgG antibodies against the keratinocyte cell surface in a “chicken wire pattern”. 

    Treatment: The treatment typically requires high-dose corticosteroids, and immunosuppressive agents like azathioprine, and rituximab.

    Complications: The prognosis is generally favourable with appropriate management, though the condition can be chronic and require long-term treatment. Corticosteroids first used for PV in the 1950s reduced the mortality from 75% to 30%. This was further reduced to below 5% with the addition of other immunosuppressive agents introduced in the 1980s. 

    References:

    1.     Alpsoy E, Akman-Karakas A, Uzun S. Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid. Arch Dermatol Res. 2015;307(4):291-298. doi:10.1007/s00403-014-1531-1

    2.     Russo I, De Siena FP, Saponeri A, Alaibac M. Evaluation of anti-desmoglein-1 and anti-desmoglein-3 autoantibody titers in pemphigus patients at the time of the initial diagnosis and after clinical remission. Medicine (Baltimore). 2017;96(46):e8801. doi:10.1097/MD.0000000000008801

    3.     Kridin K, Sagi SZ, Bergman R. Mortality and Cause of Death in Patients with Pemphigus. Acta Derm Venereol. 2017 May 8;97(5):607-611. doi: 10.2340/00015555-2611. PMID: 28093595.

    4.     Joly P, Maho-Vaillant M, Prost-Squarcioni C, et al. First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open-label randomised trial. Lancet. 2017;389(10083):2031-2040. doi:10.1016/S0140-6736(17)30070-3

  • Epidermoid Cyst

    Epidermoid Cyst

    Author: Kawaroreet Karwal MS2, Y, Miller-Monthrope, Dermatologist/Dermatopathologist, Toronto, Canada, 2024

    Definition: Epidermoid cysts (Epidermal inclusion cysts) are common benign skin lesions formed by the proliferation of epidermal cells within a confined space in the dermis. 

    Etiology: Epidermoid cysts can develop in individuals of any age but are most common in adults. They arise from the infundibulum of hair follicles.

    Symptoms: Symptoms are generally mild, but cysts can become inflamed, painful, or infected, leading to erythema, tenderness, and discharge of a foul-smelling substance. 

    Signs: These cysts are typically slow-growing and can occur anywhere on the body but are most frequently found on the face, neck, and trunk. The cysts present as firm, round, and mobile nodules, often with a central punctum. They contain keratinous material that can be oily in consistency.

    Complications: In rare cases, cysts may rupture or cause significant discomfort.

    Treatment: Treatment is usually not necessary unless the cysts are symptomatic or cosmetically concerning. Management options include intralesional steroid injections to reduce inflammation, incision and drainage for infected cysts, and definitive management via surgical excision to remove the cyst and its capsule completely.

    References:

    1.     Zuber, T. J. (2002). Minimal excision technique for epidermoid (sebaceous) cysts. American Family Physician, 65(7), 1409-1412.

    2.     Lee, H. E., Chieng, N., & Marchetti, M. A. (2018). Common skin lesions. Primary Care: Clinics in Office Practice, 45(3), 353-374.

    3.     O’Neill, A. C., & Gallo, R. L. (2012). Sebaceous glands, cysts, and tumors. In Dermatology (pp. 1560-1571). Elsevier.

  • Epidermal Nevus

    Epidermal Nevus

    Author: Kawaroreet Karwal MS2, Y, Miller-Monthrope, Dermatologist/Dermatopathologist, Toronto, Canada, 2024

    Definition: Epidermal nevus is a benign skin condition characterized by the overgrowth of epidermal cells, resulting in the formation of warty or verrucous plaques. 

    Etiology: These lesions typically present at birth or develop early in childhood and can persist throughout life.

    Epidemiology: Epidermal nevi are rare, occurring in approximately 1 in 1,000 live births. They are most commonly found on the trunk, limbs, and neck. 

    Signs: The lesions are often linear or segmental, following the lines of Blaschko, and can vary in colour from flesh-toned to brown.

    Symptoms: Symptoms associated with epidermal nevus include pruritus and irritation, particularly if the lesions are inflamed or become secondarily infected. In rare cases, epidermal nevi can be part of broader syndromes, such as epidermal nevus syndrome, which may involve neurological, skeletal, and ocular abnormalities.

    Treatment: Treatment for epidermal nevus is primarily aimed at managing symptoms and improving cosmetic appearance. Options include topical treatments, such as keratolytics and retinoids, and surgical interventions like excision, laser therapy, or cryotherapy. The choice of treatment depends on the size, location, and symptoms associated with the nevus.

    References:

    1.     Hafner, C., & Vogt, T. (2008). Sebaceous Gland Disorders. In Harper’s Textbook of Pediatric Dermatology (Vol. 2, pp. 235-246). Wiley-Blackwell.

    2.     Happle, R. (2000). The group of epidermal nevus syndromes part I. Well-defined phenotypes. Journal of the American Academy of Dermatology, 42(2), 171-183.

    3.     Patel, S., Zirwas, M., & English, J. C. (2010). Treatment of epidermal nevi: a systematic review. Journal of the American Academy of Dermatology, 62(1), 19-28.

  • Eczema Herpeticum

    Eczema Herpeticum

    Eczema Herpeticum

    Author: Kawaroreet Karwal MS2, Y, Miller-Monthrope, Dermatologist/Dermatopathologist, Toronto, Canada, 2024

    Definition: Eczema herpeticum (also known as Kaposi varicelliform eruption) is a severe, potentially life-threatening skin infection caused by the herpes simplex virus (HSV) in individuals with atopic dermatitis or other underlying skin conditions. 

    Epidemiology: It typically occurs in children and young adults but can affect individuals of any age. 

    Symptoms: Eczema herpeticum usually presents with clusters of painful, monomorphic, punched-out erosions that rapidly spread over eczematous skin areas. The affected areas may become swollen, and the lesions can develop into pustules, vesicles, and crusts. Systemic symptoms such as fever, malaise, and lymphadenopathy may also be present. 

    Diagnosis: Early diagnosis and treatment are crucial to prevent complications. Antiviral medications, such as acyclovir or valacyclovir, are the primary treatment options and should be administered promptly. In severe cases, hospitalization may be required for intravenous antiviral therapy and supportive care. Corticosteroids and antibiotics may be used to manage concurrent inflammation and bacterial infections.

    References:

    1.     Eichenfield, L. F., Tom, W. L., Chamlin, S. L., Feldman, S. R., Hanifin, J. M., Simpson, E. L., & Paller, A. S. (2014). Guidelines of care for the management of atopic dermatitis. Journal of the American Academy of Dermatology, 71(1), 116-132.

    2.     Wollenberg, A., Oranje, A., Deleuran, M., Simon, D., Szalai, Z., Kunz, B., … & Taïeb, A. (2016). ETFAD/EADV eczema task force position paper on diagnosis and treatment of atopic dermatitis. Journal of the European Academy of Dermatology and Venereology, 30(5), 729-747.

    3.     Hebert, A. A., & Rodriguez, L. A. (2016). Management of eczema herpeticum in children. Pediatric Dermatology, 33(4), 357-361.

  • Acne Fulminans

    Acne Fulminans

    Acne Fulminans

    Author: Victoria Young MS2, Y, Miller-Monthrope, Dermatologist/Dermatopathologist, Toronto, Canada, 2024

    Definition: Acne fulminans (AF) is a rare, severe variant of inflammatory acne characterized by the sudden onset of painful ulcerated or eroded acne lesions with hemorrhagic crusts that can lead to scars. 

    Symptoms: AF is often accompanied by systemic symptoms such as fever, arthralgias and joint pain and malaise. 

    Etiology: Increased androgens, a hypersensitivity reaction to C. acnes, genetic predisposition and even isotretinoin have all been implicated in the etiology of AF.

    Epidemiology: AF primarily affects adolescent males, with a history of acne vulgaris. It typically between the ages of 13 and 22. It has been reported more commonly in white patients however it may occur in all skin tones. 

    Diagnosis: Laboratory findings may show elevated inflammatory markers and leukocytosis. Treatment: Treatment of AF typically involves systemic corticosteroids in the immediate onset to control inflammation, often followed by isotretinoin.

    References:

    1.     Dall’oglio F, Puglisi DF, Nasca MR & Micali G (2020). Acne fulminans.. Giornale Italiano di Dermatologia e Venereologia, 155(6), 711-718. https://dx.doi.org/10.23736/S0392-0488.20.06711-5

    2.     Greywal T, Zaenglein AL, Baldwin HE, Bhatia N, Chernoff KA, Del Rosso JQ, Friedlander SF (2017). Evidence-based recommendations for the management of acne fulminans and its variants.. Journal of the American Academy of Dermatology, 77(1), 109-117. https://dx.doi.org/10.1016/j.jaad.2016.11.028

    3.     Oakley A et al. Acne Fulminans | DermNet NZ. dermnetnz.org. Published April 2014. 

    https://dermnetnz.org/topics/acne-fulminans