The heterogeneous syndromes caused by germline mutations in genes belonging to the RAS/mitogen-activated protein kinase pathway are often referred to as RASopathies. Abnormal activation of this pathway plays a key role i...The heterogeneous syndromes caused by germline mutations in genes belonging to the RAS/mitogen-activated protein kinase pathway are often referred to as RASopathies. Abnormal activation of this pathway plays a key role in the development of these disorders. Pathogenic variants in RASA1 gene cause an autosomal dominant syndrome called capillary malformation-arteriovenous malformation syndrome type 1 characterized by a broad phenotypic variability, even within the same family. In this syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system and skin. Herein, we report a patient with capillary malformation-arteriovenous malformation syndrome type 1 with a novel deletion on RASA1 gene. As this syndrome has been described just over two decades ago, it is most likely underdiagnosed. These kinds of skin lesions, even if unremarkable, should be evaluated by an experienced dermatologist.
Dermatomyositis is one type among a heterogeneous group of idiopathic inflammatory myopathies. Among these anti-TIF1 gamma dermatomyositis is characterized by specific skin lesions, often severe and refractory to convent...Dermatomyositis is one type among a heterogeneous group of idiopathic inflammatory myopathies. Among these anti-TIF1 gamma dermatomyositis is characterized by specific skin lesions, often severe and refractory to conventional treatments. We report a 58-year-old woman who had fatigue associated with myalgia with proximal and bilateral muscle weakness along with a generalized lilac erythematous rash on the face with Gottron papules on the metacarpophalangeal joints and periungual erythema on both hands. She also exhibited a widespread dark-violaceous-red skin eruption on the whole trunk. She was diagnosed with anti-TIF1 gamma dermatomyositis and received a treatment regimen of topical corticosteroids, hydroxychloroquine, oral corticosteroids, and conventional immunosuppressive drugs (methotrexate, azathioprine, mycophenolate mofetil, cyclophosphamide, and immunoglobulins) with no improvement of the skin rash. Therefore, she received rituximab, and three months later, the skin lesions improved magnificently. Rituximab is an efficient and safe option for patients with dermatomyositis-related skin disease refractory to conventional treatments.
Folliculitis decalvans is a chronic and progressive scarring alopecia at the vertex and occipital scalp with a predilection for middle-aged men. Squamous cell carcinoma is an exceedingly rare complication of folliculitis...Folliculitis decalvans is a chronic and progressive scarring alopecia at the vertex and occipital scalp with a predilection for middle-aged men. Squamous cell carcinoma is an exceedingly rare complication of folliculitis decalvans, reported in 5 cases to date. Herein, we present a case of squamous cell carcinoma of the scalp in a patient diagnosed with recalcitrant folliculitis decalvans and review the clinicopathologic characteristics of all reported cases in the literature.
Fox-Fordyce disease is a rare, chronic, pruritic papular eruption affecting apocrine gland-rich areas, predominantly in premenopausal women. There is no standardized treatment for Fox-Fordyce disease and various therapie...Fox-Fordyce disease is a rare, chronic, pruritic papular eruption affecting apocrine gland-rich areas, predominantly in premenopausal women. There is no standardized treatment for Fox-Fordyce disease and various therapies have yielded mixed results. Botulinum toxin type A injections have shown promise in at least three refractory cases reported in literature. We present an additional case of Fox-Fordyce disease that improved after a single treatment with Botulinum toxin type A.
Malignant syphilis, also known as lues maligna, is an atypical and aggressive form of secondary syphilis characterized by nodules and ulcers associated with a spectrum of nonspecific systemic manifestations. The underlyi...Malignant syphilis, also known as lues maligna, is an atypical and aggressive form of secondary syphilis characterized by nodules and ulcers associated with a spectrum of nonspecific systemic manifestations. The underlying states of immunosuppression represent the primary risk factor. We present a 30-year-old immunocompetent man exhibiting dermatological lesions at various stages clinically and histologically consistent with the established criteria for malignant syphilis. He received antibiotic therapy with complete clearing. Furthermore, we emphasize the importance of proper interpretation of serological tests, both for diagnosis and systematic monitoring.
Cutaneous plasmacytosis has <60 cases worldwide, typically characterized by multiple asymmetric facial and truncal cutaneous nodules and plaques. We describe the case of a 68-year-old woman with erythematous plaques o...Cutaneous plasmacytosis has <60 cases worldwide, typically characterized by multiple asymmetric facial and truncal cutaneous nodules and plaques. We describe the case of a 68-year-old woman with erythematous plaques on the feet who had a biopsy showing primary cutaneous plasmacytosis and subsequent workup revealing celiac disease. Our patient's clinical presentation of symmetric plaques on the dorsal feet is previously unreported. Additionally, plasmacytosis occurs predominantly in Japanese patients and men younger than 40. Cutaneous plasmacytosis is hypothesized to be reactive from overreaction to stimuli including trauma, infections, or malignancies. The origin of our patient's reactive process could be related to celiac disease or could be unknown. Plasmacytosis in bone marrow has been reported with celiac disease, but to our knowledge, this is the first report of cutaneous plasmacytosis in a patient with celiac disease.
Milia are small, benign firm white papules that commonly manifest on the face and torso. Several subtypes exist, including multiple eruptive milia-a condition characterized by the eruption of numerous milia that arise ov...Milia are small, benign firm white papules that commonly manifest on the face and torso. Several subtypes exist, including multiple eruptive milia-a condition characterized by the eruption of numerous milia that arise over the course of weeks to months. Although limited literature exists on this rare presentation, there seems to be no uniform patient demographic, etiology, or consistent anatomical localization of the milia. We describe a case of multiple eruptive milia presenting diffusely across the cheeks, forehead, superior neck, and preauricular and postauricular skin of an adult female. Additionally, this case is particularly unique as biopsies of representative lesions demonstrate a distinct lymphohistiocytic infiltrate. This atypical presentation underscores a gap in literature regarding multiple eruptive milia and calls into question whether a subtype of milia may exist with an inflammatory component.
Lupus miliaris disseminatus faciei is a rare papular eruption primarily affecting the face, but extrafacial involvement can occur, which poses diagnostic challenges. We present a young woman with both facial and axillary...Lupus miliaris disseminatus faciei is a rare papular eruption primarily affecting the face, but extrafacial involvement can occur, which poses diagnostic challenges. We present a young woman with both facial and axillary involvement of lupus miliaris disseminatus faciei and review the literature to highlight less common extrafacial locations. Despite its rarity, lupus miliaris disseminatus faciei should be considered in the differential diagnosis of persistent papular eruptions. Histopathologic confirmation is essential, particularly in cases lacking facial involvement. Early recognition and treatment can minimize scarring, but a uniformly successful treatment option is lacking. Our report emphasizes the importance of biopsy to establish a diagnosis, especially in the absence of facial involvement given the misleading nature of the current nomenclature.
Hepatotoxicity is a known but very rare side effect of oral terbinafine therapy. To our knowledge, there are no reported cases of patients with cleared hepatitis B infection prescribed oral terbinafine. We report an 82-y...Hepatotoxicity is a known but very rare side effect of oral terbinafine therapy. To our knowledge, there are no reported cases of patients with cleared hepatitis B infection prescribed oral terbinafine. We report an 82-year-old woman with previous hepatitis B exposure who experienced asymptomatic elevation of aspartate aminotransferase, alanine aminotransferase, and alkaline phosphatase levels following 28 days of therapy with 250mg of oral terbinafine daily for onychomycosis treatment. After drug discontinuation, her liver function tests returned to baseline about three months later, without permanent liver damage. Oral terbinafine therapy, although typically efficacious and well-tolerated for onychomycosis treatment, rarely causes hepatoxicity. Physician knowledge of this rare but important side effect is necessary to prevent morbidity and mortality resulting from continued therapy. Oral terbinafine therapy might not reactivate hepatitis B in patients with past infection.
Primary systemic amyloidosis is a condition marked by the extracellular deposition of amyloid proteins within various organ systems in the body. Although cutaneous involvement is well-described, scalp involvement in the...Primary systemic amyloidosis is a condition marked by the extracellular deposition of amyloid proteins within various organ systems in the body. Although cutaneous involvement is well-described, scalp involvement in the form of alopecia is rarely reported. We report a case of amyloid associated alopecia confirmed by histologic analysis to highlight this rare scalp manifestation associated with systemic amyloidosis.
Bacillary angiomatosis is a rare cutaneous manifestation caused by infection with Bartonella henselae that is most often seen in immunocompromised individuals, particularly those with HIV. We present an HIV-negative elde...Bacillary angiomatosis is a rare cutaneous manifestation caused by infection with Bartonella henselae that is most often seen in immunocompromised individuals, particularly those with HIV. We present an HIV-negative elderly man with bacillary angiomatosis with unexplained pancytopenia. The patient presented with a solitary, pedunculated, vascular nodule on his right forearm, and a shave biopsy was performed to rule out metastatic cancer. Biopsy results were consistent with bacillary angiomatosis, which was confirmed with polymerase chain reaction. Further evaluation revealed severely low CD4 counts in our patient, despite two negative HIV tests and lack of immunosuppressive drugs or conditions besides cytopenia. He eventually met criteria for idiopathic CD4 lymphocytopenia and was treated with doxycycline for coverage of possible disseminated infection. This case demonstrates the importance of keeping bacillary angiomatosis in the differential diagnosis in patients presenting with pedunculated angioproliferative lesions, regardless of HIV status.
Blastic plasmacytoid dendritic cell neoplasm is an uncommon, aggressive hematologic neoplasm carrying a poor prognosis with a median survival of one year, making early detection vital. Patients present with a number of c...Blastic plasmacytoid dendritic cell neoplasm is an uncommon, aggressive hematologic neoplasm carrying a poor prognosis with a median survival of one year, making early detection vital. Patients present with a number of characteristic cutaneous manifestations and are treated with chemotherapy and hematopoietic stem cell transplantation, which may improve survival. In this case, a 65-year-old man with a history of basal cell carcinoma presented with a nodule on his forehead with a honey-crusted border. Although the patient was treated with intralesional triamcinolone and a 7-day course of cephalexin for concurrent staphylococcal infection, the patient reported rapid growth of the nodule, new ecchymosis and edema involving his right cheek, and erythematous patches of the right temple and neck. Biopsy of lesions and immunohistochemical analysis confirmed the diagnosis of blastic plasmacytoid dendritic cell neoplasm. The patient was referred for further management, leading to sustained complete remission at 18 months after hematopoietic stem cell transplantation. Because blastic plasmacytoid dendritic cell neoplasm has varied cutaneous presentations that often mimic benign disease, particularly when presenting as bruise-like lesions, providers must maintain a high index of clinical suspicion and willingness to biopsy in order to make the diagnosis.
Hair is a defining feature of human appearance and plays an essential role in personality and identity development. Currently, about 1.6% of US adults identify as transgender. Within the transgender community, hair serve...Hair is a defining feature of human appearance and plays an essential role in personality and identity development. Currently, about 1.6% of US adults identify as transgender. Within the transgender community, hair serves not only as a means of self-expression but also as a crucial element in affirming gender identity, helping individuals to align their outward appearance with their inner sense of self. However, there are significant disparities in the care provided to transgender patients, particularly those seeking a more masculine or feminine appearance through hormone replacement therapy. Studies on transgender patient satisfaction with current therapies are limited but indicate overall dissatisfaction with the standard of care. Dermatologists play a pivotal role in advocating and caring for transgender patients regarding their hair and skin needs. A deeper understanding of hormone replacement therapy and hair growth/loss therapy is crucial to prescribing medications aligned with patients' treatment goals. This commentary aims to provide clinical guidance to dermatologists, aiding them in educating transgender patients undergoing hormone replacement therapy about accessible options for hair growth and loss. Treatment algorithms have been proposed based on efficacy, pharmacodynamic interactions with hormone replacement therapy, cost-effectiveness, adverse reactions, and care accessibility tailored specifically for transfeminine and transmasculine patients.
Topical corticosteroids are a first-line therapy for inflammatory skin diseases and are commonly used for chronic management. Topical corticosteroids can lead to cutaneous and systemic adverse events. The purpose of this...Topical corticosteroids are a first-line therapy for inflammatory skin diseases and are commonly used for chronic management. Topical corticosteroids can lead to cutaneous and systemic adverse events. The purpose of this expert consensus panel was to review published literature on the safety and efficacy of topical corticosteroids and role for advanced targeted topical therapies for inflammatory skin diseases. A comprehensive literature search was completed using a combination of keywords: "topical," "corticosteroid," "non-steroid," "efficacy," "adverse effects," "malpractice," and "inflammatory skin diseases." Articles were screened for relevance to topic of safety and efficacy of topical corticosteroids and noncorticosteroid therapies for inflammatory skin diseases. A panel of four dermatologists with expertise treating inflammatory skin diseases reviewed the articles and created consensus statements. A modified Delphi process was used to approve each statement and a strength of recommendation was assigned. The literature search produced 350 articles. A screening of the studies resulted in 24 articles that met criteria. The panel unanimously voted to adopt 10 consensus statements and recommendations. Topical corticosteroids and systemic corticosteroids are associated with numerous adverse effects, and medical-legal risks for clinicians prescribing these medications exist. Advanced targeted topical therapies have demonstrated safety and effectiveness as an alternative to corticosteroids.