Harlequin syndrome is a rare condition characterized by asymmetric facial flushing and sweating in reaction to heat, exercise, or emotional circumstances. It results from a defect of the autonomic nervous system. The syn...Harlequin syndrome is a rare condition characterized by asymmetric facial flushing and sweating in reaction to heat, exercise, or emotional circumstances. It results from a defect of the autonomic nervous system. The syndrome can arise from structural defects or iatrogenic factors or can be primary (idiopathic) and have a benign course. We report a 4-year-old boy who experienced sweating and flushing on the left side of the face after exercise. He had no noteworthy medical or birth history. Neurological and ophthalmological examinations revealed no additional abnormalities. Magnetic resonance imaging of the cervicothoracic spinal cord and cerebrum showed no anomalies. A diagnosis of idiopathic harlequin syndrome was made.
Porokeratosis palmaris et plantaris disseminata (PPPD) is an exceptionally rare variant of porokeratosis characterized by abnormal clonal proliferation of keratinocytes along with distinctive histopathologic features-mos...Porokeratosis palmaris et plantaris disseminata (PPPD) is an exceptionally rare variant of porokeratosis characterized by abnormal clonal proliferation of keratinocytes along with distinctive histopathologic features-most notably, the cornoid lamella. It exhibits highly polymorphic clinical manifestations that pose significant diagnostic challenges. A 21-year-old man with PPPD presented with asymptomatic keratotic papules on the palms, soles, trunk, and limbs. Dermoscopy proved invaluable in guiding the diagnostic process, revealing annular structures interrupting the dermatoglyphics, with a brownish central clod and a whitish peripheral rim corresponding histologically to the cornoid lamella. The patient demonstrated significant improvement with oral acitretin and topical urea-based creams. This case illustrates the clinical nuances of PPPD, expands current dermoscopic insights into this rare entity, and underscores the critical role of dermoscopy in differentiating PPPD from other conditions in the differential diagnosis and in guiding biopsy procedures.
Cutaneous immune-related adverse events are increasingly reported with the expanding use of immune checkpoint inhibitors to treat various cancers. A subacute cutaneous lupus erythematosus-like drug eruption was observed...Cutaneous immune-related adverse events are increasingly reported with the expanding use of immune checkpoint inhibitors to treat various cancers. A subacute cutaneous lupus erythematosus-like drug eruption was observed in a patient with durvalumab infusion, with increasing severity after each dose. The eruption improved with cessation of durvalumab, hydroxychloroquine therapy, and sun protection.
Trigeminal trophic syndrome (TTS) is a rare consequence of central or peripheral trigeminal nerve injury, characterized by the classic triad of unilateral anesthesia, paresthesia, and ulceration. Most cases are preceded...Trigeminal trophic syndrome (TTS) is a rare consequence of central or peripheral trigeminal nerve injury, characterized by the classic triad of unilateral anesthesia, paresthesia, and ulceration. Most cases are preceded by iatrogenic injury to the trigeminal nerve. Other causes include stroke, head trauma, intracranial tumors, herpes virus infection, and degenerative central nervous system illnesses. Some cases are idiopathic. Limited information exists regarding pathogenesis, although neurotrophic factors and altered sympathetic activity are implicated. Self-mutilation is widely considered pivotal. We report a patient with TTS who presented with numbness, paresthesia, and a unilateral ulcer of the right forehead following herpes zoster infection.
Penile ulcers are diagnostically challenging dermatologic manifestations with diverse etiologies that make medical management complex. We report a unique presentation of penile ulcers in a man with newly diagnosed antine...Penile ulcers are diagnostically challenging dermatologic manifestations with diverse etiologies that make medical management complex. We report a unique presentation of penile ulcers in a man with newly diagnosed antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Penile ulcers are rarely reported in ANCA-associated vasculitides. We aim to provide information about this patient's clinical presentation, diagnostic workup, treatment, and outcome.
Eccrine syringofibroadenoma (ESFA) is a rare, benign adnexal neoplasm originating from the excretory portion of the eccrine sweat glands. Its clinical presentation varies and includes multiple papules, erythematous plaqu...Eccrine syringofibroadenoma (ESFA) is a rare, benign adnexal neoplasm originating from the excretory portion of the eccrine sweat glands. Its clinical presentation varies and includes multiple papules, erythematous plaques, or a solitary nodule, the latter being the most common. ESFA is classified into 5 clinical subtypes, all of which share the same histopathological features. To illustrate a typical presentation, we present a case of solitary ESFA successfully treated with surgical excision.
Stevens-Johnson syndrome (SJS) is a severe cutaneous adverse reaction frequently associated with a drug and, rarely, with an infection. It is characterized by atypical targetoid lesions resulting in epidermal detachment...Stevens-Johnson syndrome (SJS) is a severe cutaneous adverse reaction frequently associated with a drug and, rarely, with an infection. It is characterized by atypical targetoid lesions resulting in epidermal detachment of the skin and mucosa. We report a SJS case as the initial manifestation in human immunodeficiency virus (HIV) and syphilis coinfection and explore the potential pathomechanism leading to its development. A 25-year-old man presented to the emergency room with a 1-week history of erythematous to violaceous macules and patches. This was accompanied by fever, cough, and colds. The lesions evolved into blisters with areas of erosion. He was admitted and diagnosed with SJS based on clinical and histopathologic findings. However, no potential drug triggers were identified. Further laboratory studies found and confirmed HIV and syphilis coinfection. The study explored the potential role of HIV and syphilis coinfection in the development of SJS. Immune dysregulation and concomitant infection in the skin of an HIV patient were considered as factors in the development of SJS in this case. A comprehensive review for potential infection must be warranted among patients with SJS, especially in those cases without a clear culprit drug trigger. Further reports must be documented to establish the occurrence of SJS in newly diagnosed HIV.
A 35-year-old woman was initially diagnosed with classic dermatomyositis (DM) at age 21. We cared for her during 11 of those 14 years. Traditional immunosuppressive treatments did not control her DM skin disease activity...A 35-year-old woman was initially diagnosed with classic dermatomyositis (DM) at age 21. We cared for her during 11 of those 14 years. Traditional immunosuppressive treatments did not control her DM skin disease activity. She was subsequently observed to have a juvenile-onset DM phenotype. For the past 11 years, her skin and muscle disease activity had been only partially controlled with monthly high-dose intravenous immunoglobulin (IVIG) therapy. During those 11 years of IVIG therapy, her skin disease activity continued to flare intermittently, and she developed cutaneous calcinosis. Both refractory skin disease activity and cutaneous calcinosis are known poor prognostic indicators for DM patients. Preliminary evidence suggests that the oral targeted synthetic Janus kinase inhibitor, tofacitinib, can provide more complete suppression of DM disease activity and possibly reverse cutaneous calcinosis. Furthermore, better suppression of DM disease activity could lower the patient's risk of future DM comorbidities, such as premature atherosclerotic cardiovascular disease. We propose transitioning the patient from monthly high-dose IVIG to daily oral tofacitinib therapy. Another potential benefit for both the patient and society could be substantial healthcare cost savings.
Kaposi sarcoma (KS) is a vascular tumor caused by human herpesvirus-8 (HHV-8), most often associated with human immunodeficiency virus (HIV)-positive individuals. However, KS can also occur in HIV-negative patients, thou...Kaposi sarcoma (KS) is a vascular tumor caused by human herpesvirus-8 (HHV-8), most often associated with human immunodeficiency virus (HIV)-positive individuals. However, KS can also occur in HIV-negative patients, though less commonly. We report a rare case of classic KS in an HIV-negative man with no history of male-to-male sexual activity, who experienced rapid progression to stage IV disease within 3 months. To our knowledge, this is the first documented case of classic KS in Vietnam, highlighting the potential for aggressive KS presentations in immunocompetent Asian individuals. This case underscores the importance of considering KS in the differential diagnosis of rapidly advancing skin lesions, even in patients without traditional risk factors, to ensure timely diagnosis and appropriate management.
Corticosteroids are effective and relatively inexpensive medications used worldwide for multiple inflammatory diseases. Their use is marred by several well-established side effects, including hyperglycemia, weight gain,...Corticosteroids are effective and relatively inexpensive medications used worldwide for multiple inflammatory diseases. Their use is marred by several well-established side effects, including hyperglycemia, weight gain, osteoporosis, monomorphic corticosteroid-induced acne, gastrointestinal disturbances, cataract, and glaucoma. We report a 29-year-old man with pemphigus vulgaris who achieved disease control with high-dose oral prednisolone and mycophenolate mofetil. While on treatment, he developed blurring of vision from 1 eye and was found to have central serous chorioretinopathy (CSCR). The condition was attributed to high-dose corticosteroid use by the ophthalmologist, who advised discontinuation of the offending drug as soon as possible. A rapid taper of corticosteroids was initiated to preserve vision while maintaining disease control. To our knowledge, CSCR has not been previously described in a patient with pemphigus vulgaris or other cutaneous immunobullous disorders in the English medical literature. This case aims to raise awareness of this rare ocular complication, which, if left untreated, can result in permanent vision loss.
A 53-year-old woman with a history of arterial hypertension, diabetes mellitus, and morbid obesity presented with abdominal lesions persisting for 3 months, resistant to previous treatment. Physical examination revealed...A 53-year-old woman with a history of arterial hypertension, diabetes mellitus, and morbid obesity presented with abdominal lesions persisting for 3 months, resistant to previous treatment. Physical examination revealed characteristic erythematous-violaceous plaques with serpiginous distribution and central ulceration. Histological examination confirmed diffuse dermal angiomatosis with underlying fat tissue necrosis, a rare association. Diffuse dermal angiomatosis typically affects middle-aged women with cardiovascular risk factors, and treatment involves addressing underlying vascular alterations.
Pretibial epidermolysis bullosa (PEB) is a rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by trauma-induced blistering and scarring limited to the pretibial area. DEB results from monoallelic or bi...Pretibial epidermolysis bullosa (PEB) is a rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by trauma-induced blistering and scarring limited to the pretibial area. DEB results from monoallelic or biallelic variants in the COL7A1 gene, which encodes type VII collagen. PEB generally presents with milder symptoms than other DEB forms. We report a 50-year-old man with a 30-year history of asymptomatic erythematous patches and tense blisters on the pretibial areas, triggered by construction work and improving during vacations. Physical examination revealed bilateral erythematous plaques, tense bullae, crusted erosions, and nail dystrophy of the feet. Histology and EM showed subepidermal blisters and defects in anchoring fibrils. Genetic testing identified presumptive compound heterozygosity for 2 likely pathogenic COL7A1 variants: a previously reported missense variant (c.151C>G; p.Arg51Gly) and a novel frameshift variant (c.1752del; p.Ser585Valfs*30). Symptomatically management included protective dressings. The specific combination of variants in this patient has not been previously documented. This case underscores the relevance of diagnosing PEB and identifying novel COL7A1 variants, emphasizing the need for further research to understand genotype-phenotype correlations and explore treatment options.
Granulomatosis with polyangiitis (GPA) is an uncommon form of antineutrophil cytoplasmic antibodies-associated necrotizing vasculitis characterized by symptoms affecting the ears, nose, and throat, along with respiratory...Granulomatosis with polyangiitis (GPA) is an uncommon form of antineutrophil cytoplasmic antibodies-associated necrotizing vasculitis characterized by symptoms affecting the ears, nose, and throat, along with respiratory issues and kidney involvement. Although GPA is extremely rare among children, delayed diagnosis can have fatal consequences. We report a unique instance of GPA in a 15-year-old girl exhibiting solitary pyoderma gangrenosum-like ulcers on the face. After an extensive evaluation, the patient was diagnosed with GPA and demonstrated an excellent response to dual therapy combining rituximab and corticosteroids. Although exceptionally uncommon, clinicians must consider GPA as a possible condition in the differential diagnosis of individuals presenting with pyoderma gangrenosum-like ulcers.
Gingival recession is characterized by exposure of the tooth root owing to displacement of the gingival margin. Although commonly managed by dentists and periodontists, recognition of gingival recession could be expanded...Gingival recession is characterized by exposure of the tooth root owing to displacement of the gingival margin. Although commonly managed by dentists and periodontists, recognition of gingival recession could be expanded to other specialists, including dermatologists. Dermatologists are important because gingival health can be negatively impacted in several dermatologic diseases, such as pemphigus vulgaris and oral lichen planus. This review aims to expand the understanding of treatment options for gingival recession, highlighting their relevance not only to dentists and periodontists, but also to dermatologists, who are uniquely positioned to contribute to multidisciplinary care. This review focuses on non-surgical treatment options, as these are most relevant to dermatologists. Non-surgical management largely involves addressing the underlying etiology, treating symptoms, and improving aesthetics. Dermatologists may contribute to multidisciplinary care by educating patients on aspects of non-surgical management, including improving oral hygiene and treating hypersensitivity.
Silver sulfadiazine, a topical antimicrobial that releases silver ions to disrupt bacterial cell membranes, is primarily used for second- and third-degree burns owing to its broad-spectrum activity against bacteria, fung...Silver sulfadiazine, a topical antimicrobial that releases silver ions to disrupt bacterial cell membranes, is primarily used for second- and third-degree burns owing to its broad-spectrum activity against bacteria, fungi, and certain viruses. Beyond burns, silver sulfadiazine can be used off-label for conditions such as diabetic and pressure ulcers, atopic dermatitis, and radiation dermatitis. The literature suggests it may reduce bacterial load, accelerate healing, and address challenges such as multidrug-resistant Staphylococcus aureus. Rare side effects, including localized reactions and systemic toxicity with extensive use, necessitate cautious application, especially in vulnerable populations. Despite these limitations, silver sulfadiazine remains a cornerstone of dermatological wound care. Continued research is needed to optimize its use alongside emerging therapies.
Burshtein J, Cockerell C, Cotter D
… +12 more, Farberg A, Ferris L, Kaufmann M, Leachman S, Rizzo J, Schlesinger T, Shah M, DeBusk L, Rosenberg A, Bartley B, Lebwohl M, Rigel D
Purpose To review published literature on the clinical efficacy, use, and accuracy of the 31-gene expression profiling (31-GEP) test for prognostic information in invasive melanoma. Methods A comprehensive literature sea...Purpose To review published literature on the clinical efficacy, use, and accuracy of the 31-gene expression profiling (31-GEP) test for prognostic information in invasive melanoma. Methods A comprehensive literature search used keywords "31-gene expression profiling," "melanoma," "prognosis," "clinical efficacy," and "clinical utility." A panel of 10 dermatologists with expertise in melanoma management reviewed the articles and created consensus statements. A modified Delphi process approved each statement, requiring supermajority approval through multiple rounds of real-time voting, with strength of recommendation assigned. Results The search produced 150 articles; 26 met inclusion criteria. The panel unanimously voted to adopt 9 consensus statements and recommendations regarding 31-GEP testing: 8 with strength "A" and 1 with strength "C." Conclusion The panel agreed there is strong support for using 31-GEP testing to provide prognostic information for invasive melanoma. The test provides prognostic information when thickness and other traditional factors are unknown, improves prognosis assessment when added to American Joint Committee on Cancer 8th edition staging system, and is associated with improved melanoma-specific mortality and overall survival. The panel concluded that the robust existing literature strongly supports its use as a best practice for appropriate patients with melanoma.
Shah M, Debusk L, Rosenberg A
… +11 more, Burshtein J, Zakria D, Dany M, Dinehart S, Lebwohl M, Lewin J, Monks G, Mortazie M, Schlesinger T, Trotter S, Rigel D
BACKGROUND: Hedgehog inhibitors (HHIs) are approved for the treatment of locally advanced BCCs in patients who are not surgical candidates or have had recurrence following surgical treatment. This expert consensus panel...BACKGROUND: Hedgehog inhibitors (HHIs) are approved for the treatment of locally advanced BCCs in patients who are not surgical candidates or have had recurrence following surgical treatment. This expert consensus panel further characterizes the efficacy and safety of HHIs while also providing clinical guidance on their appropriate dosing, laboratory monitoring, and supplementation. METHODS: A comprehensive literature review was completed on November 1, 2024 using the keywords "basal cell carcinoma," "hedgehog inhibitor," "sonidegib," and "vismodegib". An expert panel of nine dermatologists reviewed and assigned levels of evidence to the relevant articles and created consensus statements regarding HHIs, with correlating strength of recommendations, using the modified Delphi process. RESULTS: Of the 304 articles identified, 23 articles met the selection criteria and were included for review. The panel unanimously adopted nine consensus statements and recommendations, of which three were given a strength of recommendation of "A", two were given a "B", and four were given a "C". CONCLUSION: Sonidegib and vismodegib have similar efficacy in treating advanced BCC, but sonidegib has lower rates and a greater delay in onset of AEs. Sonidegib has a significantly greater volume of distribution and half-life than those of vismodegib. Dosing interruptions have not been shown to reduce the efficacy of HHIs, and L-carnitine supplementation can help reduce the incidence of muscle spasms.
Excision of skin cancer may involve a closure that can substantially increase the total cost of care. Dermatologist-specific factors may predict closure billing. The objective was to identify characteristics that predict...Excision of skin cancer may involve a closure that can substantially increase the total cost of care. Dermatologist-specific factors may predict closure billing. The objective was to identify characteristics that predict higher-than-expected closure costs following skin cancer excision. The study included general dermatologists who performed malignant excisions and closures in the 2022 United States Medicare population. K-means clustering was performed on each dermatologist's cost difference and their mean size of malignant excisions. Dermatologist characteristics were compared between clusters and effect sizes were calculated to ensure substantial magnitudes of difference. Compared with dermatologists in low-cost clusters, dermatologists in high-cost clusters had higher office visit levels of service (P<0.0001) and practiced in postal codes with higher household incomes (P<0.0001), lower social deprivation scores (P<0.0001), and more urban areas (P<0.0001). For only small excision sizes, the high-cost cluster had more female dermatologists (P<0.0001). General dermatologists who billed for office visits at higher levels or practiced in more urban and affluent areas had higher skin cancer excision closure costs. The dermatologist practice patterns described here may help inform strategies to reduce the cost of surgical care for skin cancer.
Rosenberg A, Zakria D, DeBusk L
… +11 more, Burshtein J, Shah M, Alexis A, Atanaskova-Mesinkovska N, Golant A, Patel T, Schlesinger T, Strober B, Swanson L, Rigel D, Lebwohl M
Atopic dermatitis is a chronic, itch-inducing inflammatory skin condition that significantly affects quality of life. Abrocitinib, an oral medication that selectively inhibits Janus kinase 1, targets inflammatory pathway...Atopic dermatitis is a chronic, itch-inducing inflammatory skin condition that significantly affects quality of life. Abrocitinib, an oral medication that selectively inhibits Janus kinase 1, targets inflammatory pathways involved in the disease. All Janus kinase inhibitors approved by the United States Food and Drug Administration for inflammatory conditions carry boxed warnings for serious infections, mortality, malignancy, major adverse cardiovascular events, and thrombosis. A panel of eight dermatologists met to evaluate the safety of abrocitinib and the impact of Janus kinase selectivity on side effects. A literature search of PubMed, Scopus, and Google Scholar identified 246 English-language studies, of which 36 met inclusion. These were reviewed by the panel prior to a roundtable discussion. Using a modified Delphi method, the panel developed 10 consensus statements and assigned a strength of recommendation to each: seven statements were rated "A," one "B," and two "C." Abrocitinib provides rapid itch relief for people with moderate-to-severe atopic dermatitis. It shows greater selectivity for Janus kinase 1 than other treatments and higher efficacy than biologic therapies. Its safety profile is similar to other Janus kinase 1 inhibitors, with low risk of serious infections and a rate of cardiovascular events and thrombosis comparable to placebo.
Morphea is an uncommon inflammatory disorder characterized by progressive sclerosis of the skin and soft tissues. We describe the novel occurrence of generalized morphea profunda arising in close temporal association wit...Morphea is an uncommon inflammatory disorder characterized by progressive sclerosis of the skin and soft tissues. We describe the novel occurrence of generalized morphea profunda arising in close temporal association with the COVID-19 messenger ribonucleic acid vaccination series. An 80-year-old man presented with numerous areas of firm, tight skin across his trunk and extremities with associated itching and burning. He denied characteristic symptoms of systemic sclerosis. Physical examination revealed numerous indurated plaques, some with porcelain-white or sclerotic yellow centers, on the bilateral dorsal forearms, anterior waistline, and bilateral legs. There was no evidence of sclerodactyly or inflammatory arthritis. Punch biopsies showed thickened collagen bundles in the reticular dermis, diminished periadnexal fat, and a perivascular and interstitial mononuclear cell infiltrate. The hyalinizing fibrosing reaction extended into the fat and was manifested by notable expansion of the interlobular septa of the fat by dense collagen. He was started on oral methotrexate with significant improvement in symptoms and lesion induration at 14-month follow-up. This case report provides further insight into the potential dermatologic adverse events associated with COVID-19 messenger ribonucleic acid vaccination. Further investigation is needed to determine any predisposing patient-specific intrinsic factors, unrecognized pathophysiologic mechanisms, and approximate incidence of such adverse events.