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1.
Pediatr Dermatol ; 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38969348

RESUMO

Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%-30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia-like syndromes due to trichoscopy findings, absence of response to long-term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.

2.
Pediatr Dermatol ; 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38621679

RESUMO

Phacomatosis pigmentokeratotica (PPK) is a RASopathy characterized by the presence of a sebaceous nevus and a papular speckled lentiginous nevus. This case report highlights the associated extracutaneous comorbidities, including life-threatening arrhythmia, and introduces topical rapamycin as a potential therapeutic avenue for sebaceous nevus in PPK patients.

3.
Pediatr Dermatol ; 2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38556785

RESUMO

We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.

4.
Am J Med Genet A ; 194(6): e63551, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38321651

RESUMO

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.


Assuntos
Capilares , Epilepsia , Proteínas Proto-Oncogênicas c-akt , Telangiectasia , Malformações Vasculares , Feminino , Humanos , Recém-Nascido , Masculino , Capilares/anormalidades , Capilares/patologia , Epilepsia/genética , Epilepsia/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Mosaicismo , Mutação/genética , Fenótipo , Proteínas Proto-Oncogênicas c-akt/genética , Telangiectasia/genética , Telangiectasia/patologia , Telangiectasia/diagnóstico , Malformações Vasculares/genética , Malformações Vasculares/patologia , Malformações Vasculares/diagnóstico , Malformações Vasculares/complicações , Adolescente
7.
Br J Dermatol ; 189(5): 520-530, 2023 10 25.
Artigo em Inglês | MEDLINE | ID: mdl-37463422

RESUMO

BACKGROUND: Facial angiofibromas (FAs) are a major feature of tuberous sclerosis complex (TSC). Topical rapamycin can successfully treat FAs. A new stabilized cream formulation that protects rapamycin from oxidation has been developed in 0.5% and 1% concentrations. OBJECTIVES: To assess the efficacy and safety of a novel, stabilized topical rapamycin cream formulation. METHODS: This multicentre double-blind randomized placebo-controlled dose-response phase II/III study with a parallel design included participants aged 6-65 years with FAs of mild or moderate severity according to the Investigator's Global Assessment (IGA) scale. Participants were randomized to one of three treatment arms: topical rapamycin 0.5%, topical rapamycin 1% or placebo. Treatment was applied once daily for 26 weeks. Safety and efficacy measures were assessed at days 14, 56, 98, 140 and 182. The primary endpoint was the percentage of participants achieving IGA scores of 'clear' or 'almost clear' after 26 weeks of treatment. Secondary measures included Facial Angiofibroma Severity Index (FASI) and participant- and clinician-reported percentage-based improvement. Safety measures included the incidence of treatment-emergent adverse events and blood rapamycin concentration changes over time. RESULTS: Participants (n = 107) were randomized to receive either rapamycin 1% (n = 33), rapamycin 0.5% (n = 36) or placebo (n = 38). All treated participants were included in the final analysis. The percentage of participants with a two-grade IGA improvement was greater in the rapamycin 0.5% treatment group (11%) and rapamycin 1% group (9%) than in the placebo group (5%). However, this was not statistically significant [rapamycin 0.5%: odds ratio (OR) 1.71, 95% confidence interval (CI) 0.36-8.18 (P = 0.50); rapamycin 1%: OR 1.68, 95% CI 0.33-8.40 (P = 0.53)]. There was a statistically significant difference in the proportion of participants treated with rapamycin cream that achieved at least a one-grade improvement in IGA [rapamycin 0.5%: 56% (OR 4.73, 95% CI 1.59-14.10; P = 0.005); rapamycin 1%: 61% (OR 5.14, 95% CI 1.70-15.57; P = 0.004); placebo: 24%]. Skin adverse reactions were more common in patients following rapamycin application (64%) vs. placebo (29%). CONCLUSIONS: Both rapamycin cream formulations (0.5% and 1%) were well tolerated, and either strength could lead to clinical benefit in the treatment of FA.


Assuntos
Angiofibroma , Esclerose Tuberosa , Humanos , Sirolimo , Angiofibroma/complicações , Angiofibroma/tratamento farmacológico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/tratamento farmacológico , Imunossupressores/efeitos adversos , Emolientes/uso terapêutico , Método Duplo-Cego , Imunoglobulina A , Resultado do Tratamento
9.
Appl Clin Genet ; 16: 63-81, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37124240

RESUMO

Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the GNAQ gene, and more recently, the GNA11 gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of GNAQ/GNA11 molecular pathways will help to develop future targeted treatments.

10.
Pediatr Dermatol ; 40(6): 1094-1096, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36973173

RESUMO

Tricho-dento-osseous syndrome (TDOS) is a rare ectodermal dysplasia caused by mutations in the DLX3 gene and it is not usually included as a cause of syndromic woolly hair. We present a new case of TDOS with a novel DLX3 variant and woolly hair.


Assuntos
Doenças do Cabelo , Fatores de Transcrição , Humanos , Fatores de Transcrição/genética , Proteínas de Homeodomínio/genética , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Cabelo
12.
Front Immunol ; 12: 740820, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34567003

RESUMO

The presence of anti-desmocollin (Dsc) antibodies is rarely described in autoimmune blistering diseases patients. Moreover, several clinical phenotypes of pemphigus may be associated with these antibodies. In this review we analyze clinicopathological, immunologic and outcome features of anti-Dsc autoimmune blistering diseases patients, to improve their diagnosis and management. We conducted a systematic search of PubMed and Embase (1990-present) for studies reporting cases of autoimmune blistering diseases with anti-Dsc antibodies. We classified the selected patients as patients with exclusively anti-Dsc autoantibodies, and patients with anti-Dsc and other autoantibodies. Of 93 cases with anti-Dsc autoantibodies included, 38 (41%) had exclusively these antibodies. Only 18% of patients presented with the typical clinicopathological phenotype of pemphigus vulgaris or pemphigus foliaceous. Mucosal involvement was seen in approximately half of the patients. Up to 18% of cases were associated with neoplasms. Acantholysis was described in 54% of cases with histopathological information. Treatments and outcomes vary in the different clinical phenotypes. The presence of anti-Dsc antibodies must be suspected mainly in those patients with either atypical pemphigus, in special with clinical pustules, or in cases showing intraepithelial or dermal neutrophilic/eosinophilic infiltrate on histological examination and dual pattern by direct immunofluorescence examination.


Assuntos
Autoanticorpos/metabolismo , Desmocolinas/imunologia , Eosinófilos/imunologia , Neutrófilos/imunologia , Pênfigo/imunologia , Pele/imunologia , Acantólise , Animais , Autoimunidade , Desmogleínas/imunologia , Humanos , Fenótipo
13.
Clin Psychol Psychother ; 28(5): 1230-1242, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33586819

RESUMO

This study provides the results from the implementation of a highly structured therapist-guided iCBT programme for people with work-related anxiety and depression, in terms of programme efficacy, participants' adherence and satisfaction. Seventy-seven national police workers were randomly allocated to one of two groups: without additional videoconference sessions (web platform with guidance of therapist) and with additional videoconference sessions (same intervention as the previous group, plus two videoconference guidance sessions with a psychologist). The intervention was composed of 12 sessions and took place for 17-20 weeks. We found an adherence rate of 36.4%, with no differences between groups. All participants endorsed lower depression (BDI-II F(1) = 36.98, p < .001; ATQ F(1) = 24.22, p < .001), and anxiety (STAI-State F(1) = 76.62, p < .001) after the programme. As a variable related to anxiety and depression in workplace, participants also showed higher assertiveness levels (RAS F(1) = 8.96, p < .001). A significant reduction of the mean level of anxiety perceived by participants as the intervention programme progressed was observed in both groups (F(2) = 7.44; p = .003). Participants were satisfied with the therapists' intervention and with the programme. No significant group effects were found for any of the measures. Reduction in depression levels was maintained in the 12-month follow-up, but levels of anxiety increased. This study is innovative, as it is the first controlled trial to analyse the effect of two added videoconference sessions, and it includes short- and long-term measures, which is not usual. The results are discussed to clarify the role of the contact with the therapist to improve treatment adherence.


Assuntos
Terapia Cognitivo-Comportamental , Depressão , Ansiedade/terapia , Depressão/terapia , Humanos , Internet , Comunicação por Videoconferência
16.
Pediatr Dermatol ; 37(5): 958-959, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32543761

RESUMO

We present the rare case of a young adult who developed late recurrence of Kasabach-Merritt phenomenon in a congenital kaposiform hemangioendothelioma that had been quiescent since infancy. We postulate that the extensive and infiltrative nature of our patient's tumor, combined with a recent history of direct microtrauma from acupuncture, contributed to the development of this late complication.


Assuntos
Hemangioendotelioma , Síndrome de Kasabach-Merritt , Sarcoma de Kaposi , Humanos , Síndrome de Kasabach-Merritt/diagnóstico , Adulto Jovem
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