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Photodermatology, Photoimmunology &... Sep 2020Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at-risk populations. The skin plays a...
BACKGROUND
Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at-risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets.
OBJECTIVE
The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets.
METHODS
To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019.
RESULTS
A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D-dependent rickets, hypocalcemic vitamin D-dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under-recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis.
CONCLUSION
Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.
Topics: Early Diagnosis; Humans; Rickets; Risk Factors; Skin Diseases
PubMed: 32645757
DOI: 10.1111/phpp.12590 -
Annales de Dermatologie Et de... Nov 2020Neonatal and infantile malignant melanoma is rare. It may be difficult to diagnose and often carries a poor prognosis.
INTRODUCTION
Neonatal and infantile malignant melanoma is rare. It may be difficult to diagnose and often carries a poor prognosis.
MATERIAL AND METHODS
We decided to review the data on congenital, neonatal and infantile malignant melanomas in order to understand their presentation (clinical, histological, molecular), diagnosis, management and outcomes. We performed a literature search of all cases of early-onset melanoma published in PubMed from its inception to March 2019 using the following keywords: "malignant melanoma" OR "melanoma" OR "pigmented nevus" OR "malignant pigmented" AND "infantile" OR "congenital" OR "children" OR "childhood" OR "infancy" OR "neonatal". Congenital melanoma associated with maternal-foetal transmission was not included in the study.
RESULTS
Sixty-five articles were selected and 85 cases were included in the study. Most patients were male (sex ratio: 1.6). The average age at diagnosis was 5.5 months (minimum-maximum: 0-24 months). The main site reported for congenital melanoma was the head-and-neck area and for neonatal and infantile melanoma the trunk. Half of all patients had a metastatic disease at the time of diagnosis. In metastatic cases, the prognosis was poor with the exception of patients undergoing complete excision of the tumour and metastases. The main treatment for cutaneous melanomas and operable metastasis was surgery, and secondarily, chemotherapy/immunotherapy.
CONCLUSION
Neonatal and infantile malignant melanoma are rarely reported and not well-documented. It is necessary to collect additional cases to improve our knowledge of this rare disease.
Topics: Child; Humans; Immunotherapy; Infant, Newborn; Male; Melanoma; Nevus, Pigmented; Prognosis; Skin Neoplasms
PubMed: 32563535
DOI: 10.1016/j.annder.2020.05.001 -
Journal of the American Academy of... Jan 2021There is lack of uniformity in the reflectance confocal microscopy (RCM) terminology for melanocytic lesions.
BACKGROUND
There is lack of uniformity in the reflectance confocal microscopy (RCM) terminology for melanocytic lesions.
OBJECTIVE
To review published RCM terms for melanocytic lesions and identify redundant, synonymous terms.
METHODS
A systematic review of original research articles adhering to Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines was conducted until August 15, 2018. Two investigators gathered all published RCM terms used to describe melanoma and melanocytic nevi. Synonymous terms were grouped based on similarity in definition and in histopathologic correlation.
RESULTS
Out of 156 full-text screened articles, 59 studies met the inclusion criteria. We identified 209 terms; 191 (91.4%) corresponding to high-magnification/cellular-level terms and 18 (8.6%) corresponding to low-magnification/architectural patterns terms. The overall average use frequency of RCM terms was 3.1 times (range, 1-31). By grouping of individual RCM terms based on likely synonymous definitions and by eliminating terms lacking clear definition, the total number of RCM terms could be potentially reduced from 209 to 40 terms (80.8% reduction).
LIMITATIONS
Non-English and non-peer-reviewed articles were excluded.
CONCLUSIONS
This systematic review of published RCM terms identified significant terminology redundancy. It provides the basis for subsequent terminology consensus on melanocytic neoplasms.
Topics: Humans; Melanoma; Microscopy, Confocal; Skin Neoplasms; Terminology as Topic
PubMed: 32454102
DOI: 10.1016/j.jaad.2020.05.097 -
Epilepsy & Behavior : E&B Jun 2020Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by giant melanocytic cutaneous nevi and melanosis within the central nervous system (CNS),...
PURPOSE
Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by giant melanocytic cutaneous nevi and melanosis within the central nervous system (CNS), often sparing leptomeninges and concentrated in the brain parenchyma. Epilepsy and neurodevelopmental abnormalities are the only complications reported in children with isolated parenchymal melanosis. A minority of patients experience drug-resistant epilepsy, and up to now, no predictors of epilepsy prognosis have been identified.
METHODS
In this systematic review, according to preferred reporting items for systematic review and meta-analysis (PRISMA) guidelines, we aggregated clinical cases of patients with isolated parenchymal melanosis affected by epilepsy, in order to recognize predictors of clinical outcome and to clarify indications of available therapeutic approaches.
RESULTS
Sixteen articles (19 patients) were included in the final analysis from initial database research; 4 articles (4 patients) were selected from reference lists and 1 from conference abstracts (1 patient). In our series, distribution of parenchymal melanosis was the best predictor of epilepsy outcome: frequencies of seizure-free patients were different between cases of isolated/bilateral amygdale melanosis and those of multiple localizations (p = 0.037). Failure of antiepileptic drugs (AEDs) and/or surgical epilepsy therapy were associated with poor cognitive outcome (p = 0.03).
CONCLUSION
Antiepileptic drugs were effective in the majority of patients with epilepsy with parenchymal melanosis. In case of multifocal distribution, more than one-third of patients presented a drug-resistant epilepsy. Epilepsy surgery is the best choice in patients with isolated amygdala localization. We propose the recognition of a multifactorial nature of cognitive impairment in neuromelanosis, emphasizing the role of drug-resistant epilepsy.
Topics: Brain; Epilepsy; Humans; Magnetic Resonance Imaging; Melanosis; Neurocutaneous Syndromes; Nevus, Pigmented; Prognosis; Skin Neoplasms
PubMed: 32272368
DOI: 10.1016/j.yebeh.2020.107061 -
Journal of Plastic, Reconstructive &... Apr 2020Congenital melanocytic naevi (CMN) can have a great impact on patients' lives due to the remarkable appearance and the risk of developing melanoma and neurocutaneous...
BACKGROUND
Congenital melanocytic naevi (CMN) can have a great impact on patients' lives due to the remarkable appearance and the risk of developing melanoma and neurocutaneous melanosis. Comparison of treatment efficacy is currently hindered by the lack of standard and uniform outcome reporting; this impedes guidance on optimal management policy. To address this, we aim to perform the first step in developing a core outcome set. With this systematic review, we identified a list of domains, outcomes (including patient reported outcomes) and outcome measurement instruments used in CMN research.
METHODS
The review was registered in PROSPERO, registration number CRD42018095235. A search was conducted in EMBASE (Ovid), PubMed and the Cochrane Library from 2006 to January 2019. Studies with 10 or more patients, with all sizes of CMN and reporting outcomes on interventional and conservative management were included.
RESULTS
A total of 1,285 individual studies was found; 63 studies were included. We extracted 57 different outcomes and 34 outcome measurement instruments showing large heterogeneity. Patient-reported outcomes were included in 38% of studies. Few outcome measurement instruments were described. Moreover, none of the studies reported that the used instruments were ever validated in a CMN population.
CONCLUSION
Heterogeneity exists in outcomes and instruments used in CMN research. The development of a core outcome set may reduce this heterogeneity in future research, thereby enabling treatment comparison and eventually facilitating guidance on management. Furthermore, this overview demonstrates a need for the use and validation of (patient reported) outcome measurement instruments for CMN.
Topics: Biomedical Research; Humans; Nevus, Pigmented; Outcome Assessment, Health Care; Skin Neoplasms
PubMed: 31917187
DOI: 10.1016/j.bjps.2019.11.023 -
Annales de Dermatologie Et de... Apr 2020There have been reports of malignant melanoma arising within tattoos. However, there is no clear relationship between tattoos and the development of cutaneous...
BACKGROUND
There have been reports of malignant melanoma arising within tattoos. However, there is no clear relationship between tattoos and the development of cutaneous malignancies. We report two new cases of melanoma and provide a review of cases of melanoma reported in the medical literature.
PATIENTS AND METHODS
Case No. 1: a 61-year-old patient consulted following the appearance one year ago of a nodular lesion measuring 4.5×3cm on a blue and red tattoo on his back. Complete excision of the lesion with histological analysis revealed an ulcerated nodular melanoma with a Breslow depth of 7mm. No secondary sites were found. Case No. 2: a 39-year-old patient with a blue tattoo on his left arm consulted following the appearance of a pigmented lesion a few months earlier. Surgical excision was immediately performed, confirming the diagnosis of SSM, with a Breslow depth of 0.9mm. There was no sign of relapse 9 years later.
DISCUSSION
In our systematic review we noted 34 cases of melanoma occurring in tattoos. There was a high male prevalence (90.3%) and a relatively young mean age (45.9 years). Most tattoos were monochrome (71.0%). The average time between tattooing and onset of melanoma was 13.2 years. The most common sites of melanoma were the upper limbs (53.1%) and trunk (34.4%). Mean tumor size was 11.6mm. Histologic examination revealed 2 cases of melanoma in situ, and in 13 cases, the Breslow depth was 1mm or less. In 5 cases, macroscopic or microscopic lymph node metastasis (sentinel lymph node) was found at diagnosis, and in one case, in transit skin metastases were also observed at the time of diagnosis. We discuss the hypothetical pathogenic role of tattoos in melanoma.
Topics: Absorption, Radiation; Adult; Arm; Back; Causality; Color; Humans; Ink; Male; Melanoma; Middle Aged; Neoplasms, Radiation-Induced; Nevus, Pigmented; Photochemical Processes; Skin Neoplasms; Tattooing; Time Factors; Ultraviolet Rays
PubMed: 31812363
DOI: 10.1016/j.annder.2019.10.024 -
International Journal of Dermatology May 2020The purpose of this study is to review the published articles regarding different surgical modalities including laser therapy in the treatment of congenital melanocytic...
OBJECTIVES
The purpose of this study is to review the published articles regarding different surgical modalities including laser therapy in the treatment of congenital melanocytic nevi (CMN).
METHODS
A systematic review was done using several databases including PubMed, Ovid Medline, Google Scholar, and Medline to search for articles related to surgical excisions and different treatment modalities of CMN.
RESULTS
Fourteen studies were included according to the inclusion and exclusion criteria. The results have shown that the Q-switched ruby laser therapy was the most commonly used laser therapy to treat CMN. Overall, using laser therapy had positive outcomes in CMN treatment. However, limited knowledge was available regarding patient satisfaction with the outcomes of laser therapy.
CONCLUSION
We concluded that the most acceptable surgical choice was using excision with tissue expanders. Laser-intense pulsed light (IPL) alone and in combination with Erbium:yttrium-aluminum-garnet (Er:YAG) has a risk of recurrence. Combination of types of the laser is more effective than a single one.
Topics: Dermatologic Surgical Procedures; Humans; Laser Therapy; Lasers, Solid-State; Neoplasm Recurrence, Local; Nevus, Pigmented; Patient Satisfaction; Skin Neoplasms; Tissue Expansion Devices; Treatment Outcome
PubMed: 31792950
DOI: 10.1111/ijd.14727 -
Dermatologic Therapy Jan 2020Hori's nevus is a pigmentation disorder reported mainly in middle-aged Asian women. There is no systematic review addressing its pharmacotherapy. The population for our...
Hori's nevus is a pigmentation disorder reported mainly in middle-aged Asian women. There is no systematic review addressing its pharmacotherapy. The population for our systematic review was patients with a clinical/histological diagnosis of Hori's nevus (both sex, any age group). We screened five literature databases using relevant keywords. All RCTs, observational studies and case series mentioning at least one intervention and outcome of that intervention were included. Nineteen studies were included in the final systematic review from total 680 identified nonduplicate records. Different forms of laser (alexandrite laser [QSAL and PSAL], Nd:YAG laser [QSNYL high fluence, low fluence, 532 followed by 1064 nm], Er: YAG and Nd:YAG combination, ruby laser [QSRL], CO laser followed by QSRL) and dermabrasion were found to be useful in treatment of Hori' nevus. Among alexandrite lasers, PSAL is more efficacious and safe than QSAL. In case of high fluence QSNYL, hyperpigmentation rate is quite high while low fluence QSNYL requires more number of treatment sessions. The combined 1064 nm + 532 nm protocol is better in terms of efficacy and safety. Er:YAG + Nd:YAG combination have similar efficacy and added advantage of synergistic action and no adverse event.
Topics: Asian People; Dermabrasion; Female; Humans; Laser Therapy; Male; Nevus of Ota; Randomized Controlled Trials as Topic
PubMed: 31714651
DOI: 10.1111/dth.13167 -
Journal of Paediatrics and Child Health Feb 2019The aim of this study is to review sirolimus as a treatment for blue rubber bleb naevus syndrome (BRBNS). A literature search of Medline, Embase, CINAHL, SCOPUS and...
The aim of this study is to review sirolimus as a treatment for blue rubber bleb naevus syndrome (BRBNS). A literature search of Medline, Embase, CINAHL, SCOPUS and Google Scholar was conducted for publications reporting treatment of patients with BRBNS with sirolimus. Of 46 articles identified, 17 studies reporting 23 patients met inclusion criteria. Sirolimus was well tolerated in all but one patient who required treatment cessation; 17/18 patients noted an improvement in gastrointestinal disease where this was reported; 21/22 patients noted an improvement in cutaneous disease where this was reported. Based on these results, sirolimus may be considered a first-line treatment of BRBNS depending on patient morbidity.
Topics: Gastrointestinal Neoplasms; Humans; Nevus, Blue; Sirolimus; Skin Neoplasms
PubMed: 30565378
DOI: 10.1111/jpc.14345 -
The British Journal of Dermatology Feb 2018Recent studies on congenital melanocytic naevi (CMN) indicate a lower risk of melanoma than has been previously assumed. As a result, the treatment paradigm in CMN has... (Meta-Analysis)
Meta-Analysis
Recent studies on congenital melanocytic naevi (CMN) indicate a lower risk of melanoma than has been previously assumed. As a result, the treatment paradigm in CMN has shifted from complete removal to cosmetically acceptable, less invasive treatment options, such as laser treatment. Our objective was to review systematically the efficacy and safety of laser therapy for CMN. We searched MEDLINE, Embase, the Cochrane Central Register of Controlled Trials and PubMed. We rated the quality of evidence with the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Twenty-four eligible studies (three nonrandomized controlled studies; 21 case series) with 434 patients were included; the majority were of poor quality). Twenty different laser modalities or combinations were evaluated. Overall, the Q-switched laser was used most frequently, although large or giant CMN were generally treated with an ablative laser. Owing to heterogeneity between studies, comparison between laser modalities was hampered and statistical analysis was precluded. Lasers in CMN showed rather good results (albeit with very low-quality evidence) for clearing of hyperpigmentation in the short term. Outcome measures varied widely, patient satisfaction was rarely measured and high incidences of scarring, repigmentation and complications were reported. No malignant change was seen. While most studies report short-term improvement of CMN after laser therapy, there is no high-quality evidence for the efficacy and safety of laser modalities in CMN in the long term. Future research should focus on well-conducted and well-reported prospective studies on different laser modalities for CMN, with the use of recognized and validated outcome measures.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Laser Therapy; Nevus, Pigmented; Research Design; Skin Neoplasms; Treatment Outcome
PubMed: 29077988
DOI: 10.1111/bjd.16094