Introdução
O que você precisa saber de cara
Facomatose cesioflammea é uma condição rara associada a mutações nos genes GNA11 e GNAQ, caracterizada por lesões cutâneas em "chama" e anomalias oculares. Pode apresentar glaucoma, tumores uveais e outras manifestações sistêmicas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, t
Cell membraneCytoplasm
Hypocalciuric hypercalcemia, familial 2
A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity
Cell membraneGolgi apparatusNucleusNucleus membrane
Capillary malformations, congenital
A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.
Variantes genéticas (ClinVar)
99 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Facomatose cesioflammea
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Clinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis.
Phakomatosis pigmentovascularis, a multisystem disorder, exhibited male predominance, with Phakomatosis cesioflammea as the most prevalent type. Glaucoma affected 88% of eyes, with three-quarters requiring surgery. Systemic issues, notably epilepsy and anemia, were prevalent in over half of all subjects. To report the clinical profile and demographic characteristics of a large cohort with Phakomatosis pigmentovascularis (PPV). Included 119 eyes of 60 patients with PPV between January 1996 and January 2023 (27 y). This is a retrospective multicentric study involving 4 tertiary network institutes in India. The diagnosis of PPV was established based on the concurrent presence of pigmentary nevi and capillary malformation, with classification conducted according to the Happle classification system. Demographic information, clinical features at the time of diagnosis (both ocular and systemic), the prevalence of glaucoma, details of management strategies used, and the subsequent outcomes were meticulously documented. Key outcome measures included the prevalence of glaucoma among patients, the frequency of systemic abnormalities noted, and the various surgical interventions performed along with their respective success rates. The cohort had male preponderance (male: female ratio of 67%:33%), with median age of presentation at 0.48 (range=0.12, 7.77) years. Glaucoma was observed in 105 eyes (88.2%), with bilateral involvement present in 75% of cases. The most prevalent phenotype observed within the cohort was Phakomatosis cesioflammea (Type iib), affecting 65% of patients. Systemic abnormalities were noted in 51.6% of cases, with epilepsy (45%) and anemia (36%) being the most frequently documented conditions. Surgical intervention was required for 64.7% of eyes for intraocular pressure control, with combined trabeculotomy and trabeculectomy being the predominant procedure used. Surgical success was noted in 87% of eyes, and 19.4% eyes had complications. Phakomatosis cesioflammea (Type iib) was the most common subgroup noted. The majority of patients had glaucoma, often bilateral, with two-thirds requiring surgical intervention for IOP control. Systemic abnormalities were common, emphasizing the need for comprehensive multisystem evaluation in these patients.
[Translated article] Bilateral Temporal Arachnoid Cysts Associated With Phakomatosis Cesioflammea.
Phakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava.
Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.
Phakomatosis pigmentovascularis (PPV) is characterized by the association of a vascular nevus with a pigmentary nevus and is divided into five subtypes. PPV type II or Happle's phakomatosis cesioflammea is the most common subtype comprising of nevus flammeus along with pigmentary nevus in the form of aberrant Mongolian spots, nevus of Ota or less frequently nevus of Ito. It is estimated that around 50% of patients with PPV have systemic involvement, most frequently involving the central nervous system and eye. Other associated features include vascular abnormalities such as Sturge-Weber syndrome, and klippel trenaunay syndrome (KTS), and cutaneous lesions such as nevus anemicus (most common), cafe'-au-lait macules, generalized vitiligo and congenital triangular alopecia (CTA). There are only four reports of PPV associated with CTA in literature, and only a single previous report with associated KTS and this association has not been reported previously from India. We describe a case of a 30-year-old male having phakomatosis pigmentovascularis type II along with klippel trenaunay syndrome and associated with congenital triangular alopecia.
Early-Onset Glaucoma Manifesting as Buphthalmos in an Infant with Phakomatosis Pigmentovascularis Type IIa.
Publicações recentes
Clinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis.
[Translated article] Bilateral Temporal Arachnoid Cysts Associated With Phakomatosis Cesioflammea.
Phakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava.
Early-Onset Glaucoma Manifesting as Buphthalmos in an Infant with Phakomatosis Pigmentovascularis Type IIa.
Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.
📚 EuropePMC4 artigos no totalmostrando 7
Clinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis.
Journal of glaucoma[Translated article] Bilateral Temporal Arachnoid Cysts Associated With Phakomatosis Cesioflammea.
Actas dermo-sifiliograficasPhakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava.
International journal of dermatologyEarly-Onset Glaucoma Manifesting as Buphthalmos in an Infant with Phakomatosis Pigmentovascularis Type IIa.
Ophthalmology. GlaucomaCongenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.
Indian dermatology online journal[Phakomatosis pigmentovascularis cesioflammea: a case report].
Archivos argentinos de pediatriaPhakomatosis cesioflammea with bilateral frontal atrophy.
Indian dermatology online journalAssociações
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis.
- [Translated article] Bilateral Temporal Arachnoid Cysts Associated With Phakomatosis Cesioflammea.
- Phakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava.
- Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.
- Early-Onset Glaucoma Manifesting as Buphthalmos in an Infant with Phakomatosis Pigmentovascularis Type IIa.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79483(Orphanet)
- MONDO:0019325(MONDO)
- GARD:19023(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788612(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar