Raras
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Ausência isolada da região inferior da perna e pé
ORPHA:294981CID-10 · Q72.2CID-11 · LB9A.7DOENÇA RARA

A podolatria ou podofilia, também conhecida como fetichismo de pés, fetichismo por pés e fetichismo pelos pés, é um aspecto da sexualidade humana, especificamente do fetichismo sexual; envolve o desejo sexual por pés femininos ou masculinos.

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Introdução

O que você precisa saber de cara

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Ausência congênita bilateral das pernas e pés, afetando a região distal dos membros inferiores. A condição é isolada, sem outras anomalias sistêmicas associadas.

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SUS: Cobertura mínimaScore: 15%
CID-10: Q72.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos12publicações
Pico20164 papers
Linha do tempo
20202015Hoje · 2026📈 2016Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Ausência isolada da região inferior da perna e pé

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Locked fibular nailing in geriatric ankle fractures: A retrospective case series.

Orthopaedics & traumatology, surgery & research : OTSR2026 Feb 12

The incidence of ankle fragility fractures is increasing. These insufficiency fractures frequently occur in a frail geriatric population and are associated with an increased risk of skin complications. The objective of this study was to evaluate the clinical and radiological outcomes of geriatric ankle fracture fixation using locked fibular nailing. We hypothesized that fixation of geriatric ankle fractures with a locked fibular nail would allow bone union without skin complications or mechanical failure. This retrospective single-center study included 21 patients with a mean age of 70.8 ± 5.2 years (range 65-85) who sustained an ankle fragility fracture treated with a locked fibular nail between January 2021 and August 2024. Fracture patterns included two isolated lateral malleolar fractures (9.5%), 17 bi-malleolar fractures (81%), one tri-malleolar fracture (4.8%), and one fracture of the distal quarter of the leg (4.8%). Pain was assessed using the Numerical Analog Scale (NAS), and functional outcomes were evaluated using the European Foot and Ankle Society (EFAS) questionnaire and the Olerud and Molander Score (OMS), with comparison to the contralateral ankle. Epidemiological and operative data, as well as complications (wound-healing disorders, mechanical failure, and non-union), were recorded. Fibular union was assessed according to the criteria described by McLennan and Ugersma. An anatomical or acceptable reduction of the fibula was achieved in 100% of patients. No wound-healing complications occurred, despite preoperative skin compromise in 17 patients (81%). No mechanical failures were observed at a mean follow-up of 13.6 months. The mean NAS score was 1.0 ± 1.2 (range 0-4). The mean EFAS score was 19.4 ± 2.4 (range 14-22), and the mean OMS score was 78.3 ± 19.1 (range 45-95). No statistically significant differences were found when compared with the contralateral ankle (p = 0.26 and p = 0.35, respectively). Complications included one early surgical site infection successfully treated with DAIR (debridement, antibiotics, and implant retention) and one secondary fracture involving both leg bones due to bone insufficiency. Mortality at final follow-up was 14.3% (3/21). Locked fibular nailing appears to be a reliable fixation technique for geriatric ankle fragility fractures, enabling bone union, restoration of anatomical alignment, and the absence of mechanical failure, while reducing the high rate of wound-related complications in this high-risk population. IV; retrospective study.

#2

Skin substitutes as treatment for chronic wounds: current and future directions.

Frontiers in medicine2023

Chronic wounds such as diabetic foot ulcers and venous leg ulcers place a significant burden on the healthcare system and in some cases, have 5-year mortality rates comparable to cancer. They negatively impact patients' quality of life due to pain, odor, decreased mobility, and social isolation. Skin substitutes are an advanced therapy recommended for wounds that fail to show decrease in size with standard care. The choice of substitute used should be based on evidence, which often differs based on wound etiology. There are more than 75 skin substitutes currently available, and that number is rising. In this review, we discuss current management and future directions of chronic wounds while providing a review of available randomized control trial data for various skin substitutes.

#3

Foot Oligodactyly as the Main Dysplasia in Children.

Cureus2023 Feb

Introduction Foot oligodactyly is usually associated with fibular insufficiency or cleft foot syndrome. A foot with a reduced number of rays may occasionally have an isolated dysplasia. Methods We reviewed the clinical notes and X-rays of six children with oligodactyly, having a normal development of the tibia and fibula. Clinical evaluation recorded the plantigrade or deviated foot, appropriate shoe wear, and aesthetic presentation of barefoot children. Radiological examination revealed missing or hypoplastic bones in the foot, the presence of other deformities, and leg length discrepancy (LLD) of the affected limb. Results On clinical evaluation, all children except one had a plantigrade foot with normal shoe wear; the lesion was not spotted in three of them unless informed of the presence of the dysplasia. Radiological examination in four of them revealed the absence or hypoplasia of the navicular, with a normal shape of the first metatarsal. Calcaneocuboid joints were normal in five of them; LLD was the main problem in three children. The girl with bilateral oligodactyly presented as a normal child. Conclusion Oligodactyly may present as an isolated dysplasia. LLD in these patients, which is less severe than in children with fibular or tibial insufficiency, is the main issue that requires surgical management in later life. Prenatal diagnosis of oligodactyly as an isolated dysplasia is an important feature for appropriate counseling of parents.

#4

Interdisciplinary approach to solve unusual mortalities in the European common frog (Rana temporaria) in two high-mountain ponds affected by climate change.

Environmental research2023 Apr 01

The global decline in amphibian populations is a major environmental issue. Chytridiomycosis, Ranaviruses and the red-leg syndrome have been identified in unusual mortality events. However, these infections do not account for all causes of declining amphibian populations. Moreover, several cases of amphibian mortality are difficult to solve without resorting to an interdisciplinary approach. Two cases of unusual mortality in Rana temporaria occurred at two high-mountain ponds (northwest Italy) in April and May 2021. Water and frog samples were analysed to understand the possible causes responsible for the unusual mortalities. Results of the main physicochemical (pH, conductivity, dissolved oxygen, chemical and biochemical oxygen demand) and nutrient (ammonia/ammonium, nitrite, nitrate, total phosphorus) parameters revealed a good condition of the water quality, with the absence of the main cyanotoxins (microcystins/nodularins). However, unseasonably high spring water temperatures were recorded in both ponds (12.73 °C and 14.21 °C for Frog Pond and Selleries Pond, respectively). Frogs (n = 50; snout-vent length: 7.0-9.8 cm; body mass: 85-123 g) collected from Frog Pond mainly presented bumps on the ventral cavity and dermal ulceration associated with the isolation of Carnobacterium maltaromaticum. On the other hand, frogs (n = 5; snout-vent length: 8.0-9.1 cm; body mass: 87-92 g) from Selleries Pond presented petechiae and dermal ulcerations on the rear limbs associated with the isolation of Aeromonas salmonicida and A. sobria. In both mortality events, the interdisciplinary approach revealed an association between frog mortalities and the isolation of bacteria. Isolated bacteria are considered opportunistic pathogens, and the high values of the water temperature has certainly led a stress on the frogs, favouring the spread of bacteria and the death of the frogs. Further studies are needed to assess the pathophysiological effects of the opportunistic bacteria here isolated, clarifying the interactions between emerging pathogens and climate change.

#5

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.

Frontiers in pediatrics2021

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical entities, which share the same pathogenetic mechanism. These conditions are caused by somatic gain-of-function mutations in PIK3CA, which encodes the 110-kD catalytic α subunit of PI3K (p110α). These PIK3CA mutations occur as post-zygotic events and lead to a gain of function of PI3K, with consequent constitutional activation of the downstream cascades (e.g., AKT/mTOR pathway), involved in cellular proliferation, survival and growth, as well as in vascular development in the embryonic stage. PIK3CA-related cancers and PROS share almost the same PIK3CA mutational profile, with about 80% of mutations occurring at three hotspots, E542, E545, and H1047. These hotspot mutations show the most potent effect on enzymatic activation of PI3K and consequent downstream biological responses. If present at the germinal level, these gain-of-function mutations would be lethal to the embryo, therefore we only see them in the mosaic state. The common clinical denominator of PROS disorders is that they are sporadic conditions, presenting with congenital or early childhood onset overgrowth with a typical mosaic distribution. However, the severity of PROS is highly variable, ranging from localized and apparently isolate overgrowth to progressive and extensive lipomatous overgrowth associated with life-threatening vascular malformations, as seen in CLOVES syndrome. Traditional therapeutic approaches, such as sclerotherapy and surgical debulking, are often not curative in PROS patients, leading to a recrudescence of the overgrowth in the treated area. Specific attention has been recently paid to molecules that are used and studied in the oncogenic setting and that are targeted on specific alterations of the pathway PI3K/AKT/mTOR. In June 2018, Venot et al. showed the effect of Alpelisib (BYL719), a specific inhibitor for the p110α subunit of PI3K, in patients with PROS disorders who had severe or life-threatening complications and were not sensitive to any other treatment. In these cases, dramatic anatomical and functional improvements occurred in all patients across many types of affected organ. Molecular testing in PROS patients is a crucial step in providing the conclusive diagnosis and then the opportunity for tailored therapy. The somatic nature of this group of diseases makes challenging to reach a molecular diagnosis, requiring deep sequencing methods that have to be performed on DNA extracted from affected tissue. Moreover, even analyzing the DNA extracted from affected tissue there is no guarantee to succeed in detection of the casual somatic mutation, since the affected tissue itself is highly heterogeneous and biopsy approaches can be burdened by incorrect sampling or inadequate tissue sample. We present an 8-year-old girl with CLOVES syndrome, born with a large cystic lymphangioma involving the left hemithorax and flank, multiple lipomas, and hypertrophy of the left foot and leg. She developed severe scoliosis. Many therapeutic approaches have been attempted, including Sildenafil treatment, scleroembolization, laser therapy, and multiple debulking surgeries, but none of these were of benefit to our patient's clinical status. She then started treatment with Rapamycin from May 2019, without significant improvement in both vascular malformation and leg hypertrophy. A high-coverage Whole Exome Sequencing analysis performed on DNA extracted from a skin sample showed a mosaic gain-of-function variant in the PIK3CA gene (p.H1047R, 11% of variant allele frequency). Once molecular confirmation of our clinical suspicion was obtained, after a multidisciplinary evaluation, we decided to discontinue Sirolimus and start targeted therapy with Alpelisib (50 mg/day). We noticed a decrease in fibroadipose overgrowth at the dorsal level, an improvement in in posture and excellent tolerability. The treatment is still ongoing.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 12

2026

Locked fibular nailing in geriatric ankle fractures: A retrospective case series.

Orthopaedics & traumatology, surgery & research : OTSR
2023

Skin substitutes as treatment for chronic wounds: current and future directions.

Frontiers in medicine
2023

Foot Oligodactyly as the Main Dysplasia in Children.

Cureus
2023

Interdisciplinary approach to solve unusual mortalities in the European common frog (Rana temporaria) in two high-mountain ponds affected by climate change.

Environmental research
2021

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.

Frontiers in pediatrics
2017

Influence of tibialis posterior muscle activation on foot anatomy under axial loading: A biomechanical CT human cadaveric study.

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons
2017

Lymphoscintigraphic abnormalities in the contralateral lower limbs of patients with unilateral lymphedema.

Journal of vascular surgery. Venous and lymphatic disorders
2016

[QUALITY OF LIFE AND PSYCHOLOGICAL ASPECTS IN PATIENTS WITH CHRONIC LEG ULCER].

Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti
2016

Leishmania major infection in a dog with cutaneous manifestations.

Parasites & vectors
2015

FIBULAR HEMIMELIA: A RARE CASE REPORT.

Ethiopian medical journal
2016

Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.

American journal of medical genetics. Part A
2016

A Biomechanical Comparison of Locking Versus Conventional Plate Fixation for Distal Fibula Fractures in Trimalleolar Ankle Injuries.

The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons

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Doenças relacionadas

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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.

  1. Locked fibular nailing in geriatric ankle fractures: A retrospective case series.
    Orthopaedics & traumatology, surgery & research : OTSR· 2026· PMID 41690549mais citado
  2. Skin substitutes as treatment for chronic wounds: current and future directions.
    Frontiers in medicine· 2023· PMID 37711741mais citado
  3. Foot Oligodactyly as the Main Dysplasia in Children.
    Cureus· 2023· PMID 36925980mais citado
  4. Interdisciplinary approach to solve unusual mortalities in the European common frog (Rana temporaria) in two high-mountain ponds affected by climate change.
    Environmental research· 2023· PMID 36736753mais citado
  5. PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.
    Frontiers in pediatrics· 2021· PMID 34568242mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:294981(Orphanet)
  2. MONDO:0017444(MONDO)
  3. GARD:21195(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55787055(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

Ausência isolada da região inferior da perna e pé
Compêndio · Raras BR

Ausência isolada da região inferior da perna e pé

ORPHA:294981 · MONDO:0017444
CID-10
Q72.2 · Ausência congênita da perna e do pé
CID-11
UMLS
C3649652
Wikidata
Evidência
🥉 Relato de caso
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