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1.
Am J Med Genet A ; 194(6): e63551, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38321651

RESUMEN

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.


Asunto(s)
Capilares , Epilepsia , Proteínas Proto-Oncogénicas c-akt , Telangiectasia , Malformaciones Vasculares , Femenino , Humanos , Recién Nacido , Masculino , Capilares/anomalías , Capilares/patología , Epilepsia/genética , Epilepsia/patología , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mosaicismo , Mutación/genética , Fenotipo , Proteínas Proto-Oncogénicas c-akt/genética , Telangiectasia/genética , Telangiectasia/patología , Telangiectasia/diagnóstico , Malformaciones Vasculares/genética , Malformaciones Vasculares/patología , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/complicaciones , Adolescente
2.
Pediatr Dermatol ; 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38969348

RESUMEN

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.

3.
Pediatr Dermatol ; 41(5): 904-907, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38621679

RESUMEN

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.


Asunto(s)
Nevo Pigmentado , Neoplasias Cutáneas , Humanos , Nevo Pigmentado/patología , Nevo Pigmentado/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/patología , Sirolimus/uso terapéutico , Sirolimus/administración & dosificación , Masculino , Femenino , Administración Tópica , Comorbilidad
4.
Pediatr Dermatol ; 41(5): 861-865, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38556785

RESUMEN

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.


Asunto(s)
Malformaciones Arteriovenosas , Capilares , Proteína Activadora de GTPasa p120 , Humanos , Proteína Activadora de GTPasa p120/genética , Malformaciones Arteriovenosas/genética , Malformaciones Arteriovenosas/diagnóstico , Capilares/anomalías , Capilares/patología , Masculino , Femenino , Mancha Vino de Oporto/genética , Mancha Vino de Oporto/patología , Lactante , Niño
5.
Pediatr Dermatol ; 2024 Aug 19.
Artículo en Inglés | MEDLINE | ID: mdl-39161100

RESUMEN

BACKGROUND: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described. OBJECTIVE: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring. METHODS: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases. RESULTS: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209. CONCLUSIONS: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.

6.
Br J Dermatol ; 189(5): 520-530, 2023 10 25.
Artículo en Inglés | MEDLINE | ID: mdl-37463422

RESUMEN

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.


Asunto(s)
Angiofibroma , Esclerosis Tuberosa , Humanos , Sirolimus , Angiofibroma/complicaciones , Angiofibroma/tratamiento farmacológico , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/tratamiento farmacológico , Inmunosupresores/efectos adversos , Emolientes/uso terapéutico , Método Doble Ciego , Inmunoglobulina A , Resultado del Tratamiento
7.
Pediatr Dermatol ; 40(6): 1094-1096, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36973173

RESUMEN

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.


Asunto(s)
Enfermedades del Cabello , Factores de Transcripción , Humanos , Factores de Transcripción/genética , Proteínas de Homeodominio/genética , Enfermedades del Cabello/diagnóstico , Enfermedades del Cabello/genética , Cabello
8.
Clin Psychol Psychother ; 28(5): 1230-1242, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33586819

RESUMEN

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.


Asunto(s)
Terapia Cognitivo-Conductual , Depresión , Ansiedad/terapia , Depresión/terapia , Humanos , Internet , Comunicación por Videoconferencia
9.
Pediatr Dermatol ; 37(5): 958-959, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32543761

RESUMEN

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.


Asunto(s)
Hemangioendotelioma , Síndrome de Kasabach-Merritt , Sarcoma de Kaposi , Humanos , Síndrome de Kasabach-Merritt/diagnóstico , Adulto Joven
10.
Eur J Pediatr ; 177(9): 1395-1398, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29520504

RESUMEN

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. The appearance of one large venous malformation (VM) in the neonatal period has suggested a characteristic finding of this syndrome. The objective of the study was to identify a specific clinical sign in the congenital venous malformations (VMs) of the BRBNS to distinguish them from the conventional VMs. Clinical histories of all patients diagnosed with BRBNS were reviewed, including those who presented a large VM at birth. Clinical characteristics of congenital VM associated with BRBNS were recorded. Five patients with BRBNS were found to have a large VM since birth. All of them presented a fern-shaped patch over the surface of the VM. CONCLUSION: The finding of this macroscopic sign in the evaluation of the newborn with a VM could be considered as a guiding syndromic herald which should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications. What is Known: • BRBNS is a rare vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. • Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. What is New: • Recognition of a fern-shaped patch in neonates with a VM should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications.


Asunto(s)
Neoplasias Gastrointestinales/diagnóstico , Hemangioma/diagnóstico , Nevo Azul/diagnóstico , Neoplasias Cutáneas/diagnóstico , Diagnóstico Diferencial , Femenino , Hemangioma/complicaciones , Humanos , Recién Nacido , Masculino
12.
Pediatr Dermatol ; 35(3): 415-417, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29656555

RESUMEN

We present cases of localized alopecia on the vertex scalp of two girls after elaborate professional hairstyling marketed as the "Princess Package" at a major U.S. theme park. Localized alopecia followed pain, erythema, and delayed crusting due to necrosis of the scalp. The majority of the affected alopecic areas had evidence of regrowth at interval follow-up, but small areas of scarring alopecia remained. We propose that these cases represent a type of alopecia caused by a combination of pressure ischemia and acute traction alopecia.


Asunto(s)
Alopecia/etiología , Cuero Cabelludo/patología , Alopecia/tratamiento farmacológico , Preescolar , Cicatriz/complicaciones , Femenino , Ácido Glucárico/administración & dosificación , Cabello/patología , Humanos , Minoxidil/administración & dosificación , Estados Unidos , Vasodilatadores/administración & dosificación
15.
Dermatol Surg ; 43(8): 1036-1041, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28375969

RESUMEN

BACKGROUND: The typical reconstructive option for closing large-sized defects of the distal half of the nose is the paramedian forehead flap. Other alternatives are a melolabial interpolation flap and bilobed or trilobed flaps. The dorsal nasal (Rieger) flap is suitable for closing small-sized defects at this location, especially when they are medially located. OBJECTIVE: The authors describe a modified dorsal nasal flap reconstruction for large nasal defects. The novelty of this study lies in lengthening the leading edge of flap rotation, which may provide tissue either from the adjacent nasal skin, the nasofacial groove, or the cheek. MATERIALS AND METHODS: The authors performed a retrospective chart review of all patients with large defects (>20 mm) of the nose who underwent modified dorsal nasal flap repair between January 2004 and March 2015 at a single academic center. RESULTS: Twenty-seven patients (16 male, 11 female; ages 44-88, mean age 62 years) had defects (the smallest 15 × 21 mm, and the largest 32 × 37 mm) on the lower portion of the nasal pyramid. Follow-up ranged from 12 months to 11 years with good or excellent results in all cases. CONCLUSION: Elongated dorsal nasal flap is a reproducible one-stage flap for large defects of the nose, with minimal risk of aesthetic or functional complications.


Asunto(s)
Nariz/cirugía , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos , Adulto , Anciano , Carcinoma Basocelular/cirugía , Carcinoma de Células Escamosas/cirugía , Estética , Femenino , Estudios de Seguimiento , Humanos , Peca Melanótica de Hutchinson/cirugía , Masculino , Persona de Mediana Edad , Cirugía de Mohs , Neoplasias Nasales/cirugía , Estudios Retrospectivos
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