RESUMO
Lentigo maligna (LM), a form of melanoma in situ, and LM melanoma (LMM), its invasive counterpart, exhibit distinctive epidemiology, risk factors, and clinical features compared to other melanoma subtypes. Notably, LM occurs on chronically sun-damaged skin presenting as a slow-growing, ill-defined patch which makes it difficult to diagnose and to treat. Additionally, while LM generally presents a favourable prognosis, it can also lead to dermal invasion and behave similarly to other melanomas with the same Breslow thickness. Hence, surgery continues to be the cornerstone treatment. Wide excisions are often necessary, but challenges arise when these lesions manifest in cosmetically sensitive regions, limiting the feasibility and desirability of large excisions. Specialized approaches, including margin-controlled surgery and image-guided treatment with reflectance confocal microscopy, have been developed to address these issues. Other non-surgical treatments such as cryosurgery, imiquimod, radiotherapy, or photodynamic therapy, may also be used but commonly present with recurrent/persistent disease. Herein we comprehensively review the existing literature on the management of LM/LMM, and discus the potential new advances on managing this challenging skin cancer.
Assuntos
Sarda Melanótica de Hutchinson , Neoplasias Cutâneas , Humanos , Sarda Melanótica de Hutchinson/terapia , Sarda Melanótica de Hutchinson/diagnóstico , Neoplasias Cutâneas/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Fotoquimioterapia , Imiquimode/uso terapêuticoRESUMO
Calcinosis cutis (CC) is characterized by deposit of calcium salts in the skin and subcutaneous tissue; its clinical presentation consists of indurated painful nodules, which can ulcerate and become superinfected. CC treatment remains a challenge, yet successful treatment with intralesional (IL) sodium thiosulfate (STS) has been reported in several CC subtypes. Herein we are reporting on a case series of 5 patients with CC successfully treated with IL-STS. We describe the 18-22 MHz ultrasound characteristics of the lesions and on follow-up after treatment. Ultrasound imaging was useful in guiding IL-STS injections and confirming response to treatment.
Assuntos
Calcinose , Tiossulfatos , Humanos , Seguimentos , Tiossulfatos/uso terapêutico , Calcinose/diagnóstico por imagem , Calcinose/tratamento farmacológico , Calcinose/patologia , UltrassonografiaRESUMO
Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger arteriovenous malformations (AVM) in different organs. Mucocutaneous telangiectasia can bleed and cause stigmatization, but the best treatment approach has not been defined yet. The aim of the study was to evaluate the efficacy and safety of dual pulsed dye laser and neodymium: yttrium-aluminum-garnet (PDL-Nd:YAG) laser treatment for mucocutaneous telangiectasia in HHT patients. It is a retrospective case series, where clinical files of all HHT patients treated with PDL-Nd:YAG laser at our Department between December 2010 and July 2019 were reviewed. Demographic, clinical, and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners scoring pretreatment and posttreatment pictures on a 5-point scale. Patient satisfaction and procedure pain were assessed using an ordinal scale (0-10). Forty-three treatment areas from 26 patients were analyzed. Lesions were predominantly located on the lower lip and cheeks. The median number of laser sessions per patient was 3 (interquartile range [IQR] 2-4). The median global severity score at baseline was 2 and became 0 at endpoint (p < 0.0001), with a median improvement rate of 4 (IQR 3-4). All patients reported a high degree of satisfaction (median 9) and tolerable pain (median 5). In conclusion, dual PDL-Nd: YAG laser is a convenient, safe, and effective treatment option for mucocutaneous telangiectasia in HHT patients.
Assuntos
Lasers de Corante , Lasers de Estado Sólido , Telangiectasia Hemorrágica Hereditária , Alumínio , Humanos , Lasers de Corante/efeitos adversos , Lasers de Estado Sólido/efeitos adversos , Neodímio , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/complicações , Resultado do Tratamento , ÍtrioRESUMO
We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Börjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.
Assuntos
Epilepsia , Hipogonadismo , Deficiência Intelectual , Deficiência Intelectual Ligada ao Cromossomo X , Proteínas de Transporte/genética , Criança , Face , Feminino , Dedos , Transtornos do Crescimento , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Mosaicismo , Proteínas RepressorasAssuntos
Acrilatos/efeitos adversos , Canfanos/efeitos adversos , Telefone Celular/instrumentação , Dermatite Alérgica de Contato/etiologia , Dermatite Ocupacional/etiologia , Dermatoses da Mão/induzido quimicamente , Adulto , Dermatite Alérgica de Contato/diagnóstico , Dermatite Ocupacional/diagnóstico , Feminino , Dermatoses da Mão/diagnóstico , Humanos , Testes do EmplastroRESUMO
Lentigo maligna (LM) is a type of melanoma in situ that has distinctive characteristics regarding epidemiology, risk factors and clinical features. In addition, LM has a potential to progress to an invasive tumor with potentially aggressive behavior: lentigo maligna melanoma (LMM). Overall, LM has a very good prognosis, whereas LMM has the same prognosis as other invasive melanomas with similar Breslow thickness. LM/LMM represents a challenging entity not only regarding the diagnosis but also regarding the management. Diagnostic criteria are not well established, and there is an overlap of clinical, dermoscopic and pathological features with other benign pigmented skin lesions such as lentigines, pigmented actinic keratoses or macular seborrheic keratoses. LM/LMM's common appearance within photodamaged skin makes lesion border identification difficult. Wide excisions are often required, but since LM/LMM typically appears on cosmetically sensitive areas such as the face, sometimes large excisions are not possible nor desirable. In this sense, specialized approaches have been developed such as margin-controlled surgery or image-guided treatment using reflectance confocal microscopy. Other treatments for LM such as cryosurgery, imiquimod, radiotherapy or photodynamic therapy have been proposed, although recurrence/persistence is common. The current manuscript reviews extensively the published data regarding the diagnosis, treatment and management of both complex entities LM and LMM.
RESUMO
BACKGROUND: Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature. OBJECTIVES: We sought to describe the clinical features and determine associated somatic mutations in patients with CMU. METHODS: We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole-exome sequencing of blood and involved tissue DNA was carried out. RESULTS: We included six patients with CM and soft-tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink-red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found. Whole-exome sequencing from DNA tissue/blood detected previously described pathogenic somatic mutations on DDR2 (c.314G > A; p.Arg105His), GRHL2 (c.791A > G; p.Glu264Gly), and PIK3CA (c.2740G > A; p.Gly914Arg) genes. CONCLUSION: We propose the term "diffuse capillary malformation with undergrowth" for extensive reticular CMs associated with proportionate undergrowth. All our patients had a favorable outcome, and no genotype-phenotype association was found.