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1.
Clin Genet ; 104(5): 554-563, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37580112

RESUMO

The PIK3CA-related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associated with an increased risk of Wilms tumor (WT). In PROS, abdominal ultrasound surveillance has been advocated to detect WT. We aimed to determine the risk of embryonic and other types of tumors in patients with PROS in order to evaluate surveillance relevance. We searched the clinical charts from 267 PROS patients for the diagnosis of cancer, and reviewed the medical literature for the risk of cancer. In our cohort, six patients developed a cancer (2.2%), and Kaplan Meier analyses estimated cumulative probabilities of cancer occurrence at 45 years of age was 5.6% (95% CI = 1.35%-21.8%). The presence of the PIK3CA variant was only confirmed in two out of four tumor samples. In the literature and our cohort, six cases of Wilms tumor/nephrogenic rests (0.12%) and four cases of other cancers have been reported out of 483 proven PIK3CA patients, in particular the p.(His1047Leu/Arg) variant. The risk of WT in PROS being lower than 5%, this is insufficient evidence to recommend routine abdominal imaging. Long-term follow-up studies are needed to evaluate the risk of other cancer types, as well as the relationship with the extent of tissue mosaicism and the presence or not of the variant in the tumor samples.


Assuntos
Neoplasias Renais , Tumor de Wilms , Humanos , Mutação , Detecção Precoce de Câncer , Transtornos do Crescimento/diagnóstico , Tumor de Wilms/diagnóstico , Tumor de Wilms/epidemiologia , Tumor de Wilms/genética , Classe I de Fosfatidilinositol 3-Quinases/genética
2.
Pediatr Dermatol ; 35(5): 548-551, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29962097

RESUMO

Pilomatricoma is a common benign tumor in children. We present a review of the literature with the aim of helping clinicians manage these patients. A detailed review of the literature was performed in the PubMed database using an exhaustive list of Medical Subject Heading words. One thousand four hundred fifty-eight children were described in retrospective series and case reports. An associated disease was found in 32 children (2.2%), most of whom had several pilomatricomas (n = 23); 9 had a single lesion. Based on this literature review, we recommend reassuring the family and then conducting a detailed interview regarding past medical and family history and a thorough clinical examination for signs of Turner syndrome, constitutional mismatch repair deficiency, Kabuki syndrome, Steiner's myotonic dystrophy, or Gardner syndrome. Regular long-term clinical follow-up is recommended. Specific paraclinical examinations should be performed only in cases of other clinical anomalies or a positive family history. Pilomatricoma requires management because it may be associated with other potentially serious diseases, especially when multiple lesions are present.


Assuntos
Doenças do Cabelo/patologia , Pilomatrixoma/complicações , Neoplasias Cutâneas/patologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino
3.
J Am Acad Dermatol ; 75(1): 64-8, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27004804

RESUMO

BACKGROUND: There is limited information regarding early development of soft-tissue and/or bone hypertrophy with facial port-wine stains (PWS). OBJECTIVE: We sought to characterize patients with hypertrophic PWS presenting during childhood. METHODS: Patients with a facial PWS and underlying hypertrophy that developed before the age of 18 years were included in a multicenter retrospective study. Age at onset of the hypertrophy, its location, association with odontologic problems, presence of other associated complications, and response to laser treatment were recorded. RESULTS: A total of 98 patients were included. The mean age at onset of hypertrophy, retrieved for 77 of 98 patients, was 5.6 years. The hypertrophy was congenital in 26%. Odontologic problems were noted in 39.8% of cases. Other complications, including cataract, asymmetric development of the maxillary bone, and speech delay/disorders, were reported in 18.4%. In all, 67 patients received laser treatment. Only 3% achieved complete or nearly complete clearance of the PWS. LIMITATIONS: As only cases of PWS with early-onset hypertrophy were included, we were unable to calculate the prevalence of this manifestation. CONCLUSION: PWS with early-onset hypertrophy are associated with a high rate of complications and a poor response to laser treatment. Periodic monitoring is recommended for early detection and treatment of complications.


Assuntos
Anormalidades Múltiplas , Lasers de Corante/uso terapêutico , Mancha Vinho do Porto/patologia , Mancha Vinho do Porto/cirurgia , Anormalidades Múltiplas/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Face , Feminino , Humanos , Hipertrofia/congênito , Hipertrofia/patologia , Hipertrofia/cirurgia , Lactente , Masculino , Pessoa de Meia-Idade , Pescoço , Mancha Vinho do Porto/complicações , Prognóstico , Estudos Retrospectivos , Adulto Jovem
5.
Acta Derm Venereol ; 95(3): 326-8, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25510955

RESUMO

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires were completed and returned (response ratio: 29% for children and 71% for adults). A negative impact of ichthyosis was obvious in terms of domestic life (skin care, housework, clothing, etc.), educational/professional lives (rejections by other children, workplace discrimination, absenteeism, etc) and for leisures/sports activities. The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses.


Assuntos
Efeitos Psicossociais da Doença , Ictiose/psicologia , Qualidade de Vida , Absenteísmo , Atividades Cotidianas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Emprego , Feminino , França/epidemiologia , Predisposição Genética para Doença , Custos de Cuidados de Saúde , Gastos em Saúde , Inquéritos Epidemiológicos , Hereditariedade , Humanos , Ictiose/diagnóstico , Ictiose/economia , Ictiose/epidemiologia , Ictiose/genética , Lactente , Atividades de Lazer , Masculino , Pessoa de Meia-Idade , Fenótipo , Rejeição em Psicologia , Índice de Gravidade de Doença , Licença Médica , Discriminação Social , Inquéritos e Questionários , Adulto Jovem
6.
J Am Acad Dermatol ; 69(1): 82-7, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23474424

RESUMO

BACKGROUND: Inherited ichthyoses are associated with impaired quality of life (QoL). OBJECTIVES: The aim of this study was to create and validate a QoL questionnaire specifically dedicated to patients with ichthyosis. METHODS: A prequestionnaire was drawn after selecting items from a verbatim transcript. It was then subjected to a cognitive debriefing. During the validation step, this questionnaire was sent to patients with the Dermatology Life Quality Index, Short Form-12 health-related questionnaire, and severity scores (global severity: mild/moderate/severe/very severe; clinical severity evaluated by 6 visual analog scales). A shortened version of the questionnaire was designed. The validity of the tool was confirmed: for its structure and 1-dimensional nature (Cronbach α), convergent (Spearman correlation) and discriminating (Tukey test) validity; α risk was fixed at 5%. RESULTS: The initial questionnaire included 60 items. During the validation phase, 59 subjects were tested. The shortened version included 32 items (IQoL-32) and 7 dimensions (Cronbach α: 0.94). The higher the score, the more impacted the QoL. IQoL-32 was positively correlated to Dermatology Life Quality Index (P < .0001) and negatively to Short Form-12 health-related questionnaire (P < .0001). IQoL-32 was highly correlated to clinical severity: overall analysis (Spearman ranking: 0.72; P < .0001) or analysis per dimension (highest correlations: discomfort, pain, interpersonal relations). IQoL-32 demonstrated a higher correlation with visual analog scale compared with Dermatology Life Quality Index and Short Form-12 health-related questionnaire. It also showed a good discriminating power (P < .0001) according to overall severity levels. LIMITATIONS: Only patients residing in France were included. CONCLUSION: IQoL-32 is a specific and validated questionnaire for inherited ichthyosis. It will be very useful for patient care and research.


Assuntos
Ictiose , Qualidade de Vida , Inquéritos e Questionários , Indicadores Básicos de Saúde , Humanos
10.
Orphanet J Rare Dis ; 16(1): 93, 2021 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-33602313

RESUMO

BACKGROUND: Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired because of pain and recurrent skin infections. An improvement in skin lesions after botulinum toxin A injections has previously been reported in some patients but no prospective interventional studies are available. The aim of this open-label, 6-month, interventional pilot study (NCT02782702) was to evaluate the effectiveness and safety of botulinum toxin A for patients with moderate to very severe skin lesions located in folds. RESULTS: Thirty patients (26 Hailey-Hailey/4 Darier) were included. Botulinum toxin A proved effective within the first month in two-thirds of patients, taking all study parameters (itchiness, cutaneous pain, sweating and odour, infections, psychosocial impairment and quality of life) into account and persisted during the 6-month follow-up period. No patient was classed as a BtxA non-responder, but 11 (37%) Hailey-Hailey patients (the most severe ones), experienced a relapse during the study. No serious side effects were reported. Mild transient clear fluid discharge at the site of the injections was reported for 27% of patients. CONCLUSIONS: Botulinic toxin seems to be an effective and safe treatment for Hailey-Hailey and Darier diseases. Nevertheless, it may prove insufficient for the severest of Hailey-Hailey cases and could be considered as supplementary to other conventional treatments. Further studies are required to confirm our results on larger Darier cohorts.


Assuntos
Toxinas Botulínicas Tipo A , Doença de Darier , Pênfigo Familiar Benigno , Toxinas Botulínicas Tipo A/uso terapêutico , Humanos , Pênfigo Familiar Benigno/tratamento farmacológico , Projetos Piloto , Qualidade de Vida
12.
Eur J Med Genet ; 62(4): 270-272, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30103035

RESUMO

Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which necessitated a complete hysterectomy and a left adnexectomy. Cases of gynecological involvements in Proteus Syndrome are rare, not well known by physicians while they can be potentially severe.


Assuntos
Fenótipo , Síndrome de Proteu/patologia , Doenças Uterinas/patologia , Adulto , Feminino , Humanos , Histerectomia , Mutação de Sentido Incorreto , Síndrome de Proteu/genética , Síndrome de Proteu/cirurgia , Proteínas Proto-Oncogênicas c-akt/genética , Doenças Uterinas/genética , Doenças Uterinas/cirurgia
13.
Orphanet J Rare Dis ; 9: 1, 2014 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-24393603

RESUMO

BACKGROUND: Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS: Capture - recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. The study was conducted in 5 areas during a closed period. RESULTS: The prevalence was estimated at 13.3 per million people (/M) (CI95%, [10.9 - 17.6]). With regard to autosomal recessive congenital ichthyosis, the prevalence was estimated at 7/M (CI 95% [5.7 - 9.2]), with a prevalence of lamellar ichthyosis and congenital ichthyosiform erythroderma of 4.5/M (CI 95% [3.7 - 5.9]) and 1.9/M (CI 95% [1.6 - 2.6]), respectively. Prevalence of keratinopathic forms was estimated at 1.1/M (CI 95% [0.9 - 1.5]). Prevalence of syndromic forms (all clinical forms together) was estimated at 1.9/M (CI 95% [1.6 - 2.6]). CONCLUSIONS: Our results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.


Assuntos
Ictiose/epidemiologia , Feminino , França/epidemiologia , Humanos , Masculino , Prevalência
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