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Frontiers in Oncology 2024Novel therapies, immune checkpoint inhibitors (ICIs), and BRAF/MEK inhibitors (BRAFi/MEKi) provide unprecedented survival benefits for patients with advanced melanoma....
BACKGROUND
Novel therapies, immune checkpoint inhibitors (ICIs), and BRAF/MEK inhibitors (BRAFi/MEKi) provide unprecedented survival benefits for patients with advanced melanoma. However, the management of drug-induced adverse events is problematic for both agents and, although rare, can cause serious cardiac dysfunction.
CASE REPORT
A 42-year-old male patient with no significant medical history noticed a fading dark brown patch on his left anterior chest, which had been there for 20 years, after his second coronavirus disease 2019 (COVID-19) vaccination. The left axillary lymph node became swollen one week after a third booster vaccination. Thinking of it as an adverse reaction to the vaccine, but the swelling increased, so he visited a hospital. The patient presented with a brown macule with depigmentation on the left anterior chest and a 13 cm left axillary mass. A biopsy of the axillary mass showed a metastatic malignant melanoma. Positron emission tomography (PET) showed an accumulation only in the axillary lymph nodes. One month after the initial diagnosis, the axillary mass had further enlarged. In addition, pleural effusion, ascites, difficulty breathing, and systemic edema appeared, and he was diagnosed with heart failure (NYHA class III). Echocardiography showed an ejection fraction of 52% and electrocardiogram (ECG) showed no abnormal findings. Though it was (a life-threatening instead of the life-threatening) the life-threatening condition, we determined that the symptoms were associated with the current disease. Then nivolumab (nivo) plus ipilimumab (ipi) was initiated after explaining the risk of cardiac dysfunction associated with drug use to the patient. After initiation of ICIs, treatment was switched to BRAFi/MEKi (encorafenib/vinimetinib) after the patient tested positive for BRAF V600E. After one month of treatment, the tumor shrank significantly and achieved a complete remission after four months. Furthermore, as the tumor shrank, the patient's heart failure improved, and he was able to continue treatment without serious drug-induced cardiotoxicity.
CONCLUSION
Both ICI and BRAFi/MEKi carry a risk of cardiac dysfunction. However, without any underlying cardiac disease or severe cardiac dysfunction, their administration should not necessarily be excluded if careful follow-up is provided.
PubMed: 38529375
DOI: 10.3389/fonc.2024.1366532 -
Clinical, Cosmetic and Investigational... 2024Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in...
Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of mutations for piebaldism etiology and presentation.
PubMed: 38524391
DOI: 10.2147/CCID.S449691 -
Arerugi = [Allergy] 2024A 2-year-old, male patient presented with an 18-month history of scattered, brown macules and nodules up to 2 cm in size on his trunk and extremities. These macules were...
A 2-year-old, male patient presented with an 18-month history of scattered, brown macules and nodules up to 2 cm in size on his trunk and extremities. These macules were accompanied by pruritus and were positive for Darier's sign. A skin biopsy of a brown macule on the left thigh revealed a dense accumulation of CD117-positive, round or oval cells with amphophilic cytoplasm within the upper to middle dermis. The patient was otherwise healthy and had normal laboratory and imaging test results. Sequence analysis of genomic DNA from a skin biopsy demonstrated the presence of an Asp419del mutation in exon 8 of the KIT gene. Based on these findings, maculopapular cutaneous mastocytosis (MPCM) was diagnosed. The patient received H 1-antihistamine. Although the pruritus resolved, the brown macules remained for one year after the initial treatment. To the best of our knowledge, only three cases of cutaneous mastocytosis (CM) with an Asp419del mutation, including the present case, have been reported in the Japanese literature to date; moreover, while the previous two cases were of DCM, the present case was the first instance of MPCM. Normally, the symptoms of childhood-onset MPCM are dormant until puberty. However, a recent study reported that many MPCM patients may experience persistent or exacerbated symptoms. The present study therefore evaluated 53 Japanese cases of childhood onset MPCM with a KIT gene mutation and discussed the patients' clinical outcomes.
Topics: Humans; Male; Child, Preschool; Urticaria Pigmentosa; Mastocytosis, Cutaneous; Skin; Mutation; Pruritus
PubMed: 38522933
DOI: 10.15036/arerugi.73.189 -
Vestnik Otorinolaringologii 2024Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease (frequency 1 in 25-90 000) characterized by the formation of tumors of the central nervous system due...
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease (frequency 1 in 25-90 000) characterized by the formation of tumors of the central nervous system due to a mutation in the gene on chromosome 22q12. Bilateral vestibular schwannomas are recognized as absolute diagnostic criteria of NF2 and occur in 95% of patients, are accompanied by hearing impairment, manifest at the age of 18-24 years. Skin manifestations can precede vestibular schwannomas for several years and predict the course of the disease: neurofibromas, cafe-au-lait macules, hypopigmented spots, recently described mesh capillary malformations. Despite the benign nature of schwannomas, they can lead to hearing loss, vestibular dysfunction, facial nerve paralysis, gait disorders, pain and convulsions, there is a risk of early death from compression of the brain stem. The probability of progressive hearing loss is partly determined by the type of mutation. We described a clinical case of NF2 in a 21-year-old patient with bilateral vestibular schwannomas without hearing loss, whose skin examination by ENT specialist revealed this disease. The importance of the presented observation is that the doctor should assume neurofibromatosis type 2 in a young patient with bilateral vestibular schwannomas. It is necessary to undertake a further examination of this patient, including: skin examination for the identification of characteristic neurofibromas and cafe-au-lait macules, consultation with an ophthalmologist, neurologist, MRI of the brain and spinal cord with contrast, genetic analysis - for timely initiation of therapy that prevents hearing loss and vestibular disorders.
Topics: Humans; Adolescent; Young Adult; Adult; Neurofibromatosis 2; Neuroma, Acoustic; Mutation; Hearing Loss
PubMed: 38506024
DOI: 10.17116/otorino20248901137 -
Pediatric Dermatology Mar 2024A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of...
A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash-leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.
PubMed: 38500310
DOI: 10.1111/pde.15581 -
The American Journal of Dermatopathology Apr 2024
Topics: Humans; Scalp; Hyperpigmentation; Skin
PubMed: 38488353
DOI: 10.1097/DAD.0000000000002653 -
The American Journal of Dermatopathology Apr 2024
Topics: Humans; Scalp; Hyperpigmentation; Skin
PubMed: 38488350
DOI: 10.1097/DAD.0000000000002655 -
Cutis Jan 2024
Topics: Humans; Radiation Protection; Skin Abnormalities
PubMed: 38478929
DOI: 10.12788/cutis.0953 -
Dermatology Online Journal Oct 2023Cutaneous lesions of secondary syphilis are highly infectious and can mimic many skin disorders, making the diagnosis more difficult. They typically present as...
Cutaneous lesions of secondary syphilis are highly infectious and can mimic many skin disorders, making the diagnosis more difficult. They typically present as generalized, nonpruritic erythematous-to-copper-colored macules and papules, characteristically involving palms and soles. In 80% of patients the rash develops insidiously. However, rare forms of secondary syphilis present as rapidly progressive papulopustular lesions. These forms of syphilis are usually associated with human immunodeficiency virus infection and immunosuppression. We report a case of secondary syphilis presenting with an acute, rapidly progressive purpuric eruption mimicking leukocytoclastic vasculitis. A 61-year-old man presented with a 6-day history of nonpruritic rash on his chest and lower extremities associated with fatigue, sore throat, and night sweats. Examination revealed purpuric papules, extending from the dorsal feet to the hips; mucosal surfaces were not involved. A diagnosis of cutaneous small-vessel vasculitis was favored with possible triggers of IgA vasculitis. Initial work-up showed acute kidney injury and microscopic hematuria. Renal biopsy showed IgA nephropathy with mesangioproliferative glomerulonephritis. The patient's rash progressed to cover almost his entire body sparing palms and soles. Skin biopsy showed heavy perivascular lymphoplasmacytic infiltrate, capillary endothelial cell swelling, and sparse perivascular neutrophilic nuclear dust. Spirochetal stain highlighted scattered epidermal and dermal organisms.
Topics: Male; Humans; Middle Aged; Syphilis; Vasculitis, Leukocytoclastic, Cutaneous; Exanthema
PubMed: 38478638
DOI: 10.5070/D329562402 -
Diagnostics (Basel, Switzerland) Feb 2024Reflectance confocal microscopy (RCM) has a defined in vivo morphology of vitiligo and re-pigmentation. Combination therapies seem more effective than monotherapies.
BACKGROUND
Reflectance confocal microscopy (RCM) has a defined in vivo morphology of vitiligo and re-pigmentation. Combination therapies seem more effective than monotherapies.
OBJECTIVE
We aim to describe the clinical and RCM features of re-pigmentation with combined narrowband ultraviolet B (NB-UVB) and piperine-based topical treatment in localized vitiligo.
METHODS
Eight patients enrolled at a single center received combined treatment: topical treatment was applied twice daily + NB-UVB twice weekly for 2 × 2-month periods. Clinical changes were analyzed by the Vitiligo Noticeability Scale (VNS) and percentage of re-pigmentation. The evaluator agreement was assessed. Predefined RCM features had the presence/absence of (i) blood vessels, (ii) dendritic cells, and the quantity of (i) an irregular honeycombed pattern and (ii) non-pigmented papillae. Clinical and RCM monitoring was performed at the baseline, 2, 3, 5, and 7 months.
RESULTS
Macules were "slightly less noticeable" with 25-50% re-pigmentation. Irregular honeycomb patterns and non-pigmented papillae were significantly less frequently observed, and in less extended areas (T1 vs. T2, = 0.039; T0 vs. T1, = 0.005 and T2 vs. T4, = 0.033). Dendritic cells and blood vessels improved, with significant changes in blood vessels (T1 vs. T2, = 0.005 and T3 vs. T4, = 0.008).
CONCLUSIONS
RCM confirms the morphological changes induced by combined treatment for localized vitiligo.
PubMed: 38472966
DOI: 10.3390/diagnostics14050494