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Case Reports in Women's Health Jan 2022Proteus syndrome is a genetic condition with an estimated incidence of less than one in a million. This condition is sporadic and presents as progressive, mosaic...
Proteus syndrome is a genetic condition with an estimated incidence of less than one in a million. This condition is sporadic and presents as progressive, mosaic overgrowth of different tissues. Clinical manifestations are diverse, with the reported involvement of lungs, skin, blood cells, the nervous system and bones. Gynecologic manifestations have rarely been reported in the literature. This case is the first to be reported in the literature of a woman with Proteus syndrome diagnosed in her prepubertal years and presenting at 34 years old with a cervical mass protruding from the vagina. The patient sought medical intervention only after the prolapse was advanced and symptomatic. Management of this case was surgical and consisted of vaginal hysterectomy, with vaginal suspension.
PubMed: 34917488
DOI: 10.1016/j.crwh.2021.e00373 -
Obstetric Medicine Dec 2021Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal...
Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.
PubMed: 34880940
DOI: 10.1177/1753495X20970791 -
Cureus Oct 2021Macrodystrophia lipomatosa (MDL) is a rare congenital overgrowth syndrome characterised by inadvertent proliferation of all the mesenchymal elements resulting in...
Macrodystrophia lipomatosa (MDL) is a rare congenital overgrowth syndrome characterised by inadvertent proliferation of all the mesenchymal elements resulting in localised gigantism. Herein, we present an eight-month-old female child, who presented to us with a history of gradual enlargement of both lower limbs along with the toes which was noticed by the parents a few days after birth. There was no history of trauma, pain or skin changes. Physical examination revealed unusual hypertrophy of both feet and toes. It was non-tender with no evidence of oedema or bruit over the swelling. X-ray of lower limbs revealed bony hypertrophy and overgrowth of all the bones with increased soft tissue shadow of bilateral foot. On ultrasound evaluation of the lower limbs, there was increased soft tissue in both dorsal and plantar aspect of bilateral foot without any vascular malformation. To characterise the swelling better, magnetic resonance imaging was warranted which revealed accumulation of excessive fat in the subcutaneous tissue without discernible capsule. Fibrous strand within the fat in bilateral feet, both in the plantar and dorsal aspect (more in plantar aspect), was seen. Core tissue biopsy was performed which showed abundant adipose tissue dispersed in mesh-like fibrous tissue and infiltrating the dermal connecting, suggestive of macrodystrophia lipomatosa. Currently, patient is advised for corrective surgery. Clinicians should be aware of these atypical presentations of MDL to differentiate it from other causes of local gigantism like fibrolipohamartoma (FLH) of nerve sheath, lymphangiomatosis, hemangiomatosis, Proteus syndrome, Klippel-Trenaunay syndrome and neurofibromatosis 1 as they differ in management and outcome.
PubMed: 34820241
DOI: 10.7759/cureus.18986 -
Dermatologic Clinics Jan 2022This article reviews the clinical findings of epidermal nevi and their associated syndromes and provides an update on their pathogenic genetic changes as well as... (Review)
Review
This article reviews the clinical findings of epidermal nevi and their associated syndromes and provides an update on their pathogenic genetic changes as well as targeted therapies detailed to date.
Topics: Humans; Nevus; Proteus Syndrome; Skin Neoplasms
PubMed: 34799036
DOI: 10.1016/j.det.2021.09.006 -
JAMA Dermatology Dec 2021
Topics: Child; Humans; Cost of Illness; Family; Proteus Syndrome; Sirolimus
PubMed: 34730773
DOI: 10.1001/jamadermatol.2021.4305 -
Fetal and Pediatric Pathology Oct 2022Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of...
Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of neoplasms, pulmonary pathology, and thrombotic risk. The main histological findings are diffuse patchy overgrowth of skin and subcutaneous tissue, plantar cerebriform connective tissue nevus, and ossification defects. We present a patient that met the clinical and histological criteria necessary for the diagnosis of the disease. He required multiple surgical interventions, including amputation of the right foot. Genetic evaluation confirmed an AKT1 mutation. CLOVES syndrome, neurofibromatosis 1 or PTEN hamartoma tumor syndrome are partially superimposable entities to Proteus syndrome and may generate diagnostic doubt. Although the clinical criteria and histologic findings are indicative, the diagnostic confirmation of this entity is genetic.
Topics: Humans; Lipoma; Male; Musculoskeletal Abnormalities; Nevus; Proteus Syndrome; Skin Neoplasms
PubMed: 34668833
DOI: 10.1080/15513815.2021.1989097 -
Cold Spring Harbor Molecular Case... Dec 2021Proteus syndrome is a rare overgrowth disorder caused by postzygotic activating variants in Individuals may develop a range of skin, bone, and soft tissue overgrowth...
Proteus syndrome is a rare overgrowth disorder caused by postzygotic activating variants in Individuals may develop a range of skin, bone, and soft tissue overgrowth leading to functional impairment and disfigurement. Therapy for this disorder is limited to supportive care and surgical intervention. Inhibitors of AKT, originally designed as cancer therapeutics, are a rational, targeted pharmacologic strategy to mitigate the devastating morbidity of Proteus syndrome. We present the 5-yr follow-up of an 18-yr-old male with Proteus syndrome treated with miransertib (MK-7075), an oral pan-AKT inhibitor. At completion of a planned 48-wk phase 1 pharmacodynamic study, the individual derived sufficient benefit that the study was amended to permit continued use and assess the long-term safety of miransertib. The treatment has been well-tolerated with mild treatment-attributed side effects including headache, transient hyperglycemia, and transient elevations of aspartate aminotransferase, alanine aminotransferase, and bilirubin. The patient has experienced sustained improvement of pain and slowed growth of bilateral plantar cerebriform connective tissue nevi. This case report supplements the data from our prior study extending those findings out to 5 years. It shows that at the doses used, miransertib has a favorable safety profile and durable benefit of improving symptoms of pain and slowing progression of overgrowth in Proteus syndrome in a single individual. Although an uncontrolled single report cannot prove safety or efficacy, these data lend support to the encouraging preliminary data of our prior phase 1 pharmacodynamic study.
Topics: Aminopyridines; Humans; Imidazoles; Male; Proteus Syndrome; Proto-Oncogene Proteins c-akt
PubMed: 34649967
DOI: 10.1101/mcs.a006134 -
Current Problems in Diagnostic Radiology 2022Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm,... (Review)
Review
Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Common phakomatoses include conditions like Neurofibromatosis and Tuberous sclerosis. Several review papers have focused on various aspects of these common conditions, including clinical presentation, genetic and molecular basis, and neuroimaging features. In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Vascular Phakomatoses (Ie, Ataxia Telangiectasia and PHACE Syndrome), and other conditions such as Cowden Syndrome, Basal Nevus Syndrome, Schwannomatosis, Progressive Facial Hemiatrophy, Gomez-Lopez-Hernandez Syndrome, Wyburn-Mason Syndrome, CHILD Syndrome, and Proteus Syndrome. We also review the neuroradiologic manifestations of these conditions as a guide for neurologists and neuroradiologists in their daily practice.
Topics: Humans; Neurocutaneous Syndromes; Neurofibromatosis 1; Neuroimaging; Skin; Syndrome; Tuberous Sclerosis
PubMed: 34607749
DOI: 10.1067/j.cpradiol.2021.07.002 -
World Journal of Urology Jan 2022To explore an appropriate duration of antibiotic therapy before percutaneous nephrolithotomy (PCNL) in patients with positive urine culture.
PURPOSE
To explore an appropriate duration of antibiotic therapy before percutaneous nephrolithotomy (PCNL) in patients with positive urine culture.
METHODS
From March 2016 to May 2018, consecutive patients with positive urine culture undergoing PCNL were prospectively registered. Initial preoperative antibiotics were given empirically. If needed, antibiotics were upgraded or adjusted to susceptible antibiotic after obtaining antibiotic-sensitivity test. Postoperative systemic inflammatory response syndrome (SIRS) was the primary outcome.
RESULTS
Among the 220 participants, the incidence of positive stone culture and SIRS were 85.5% and 36.8%. Escherichia coli (53.6%, 44.5%) and Proteus mirabilis (8.2%, 10.0%) were the top two bacteria in urine and stones. In univariable analysis, patients with postoperative SIRS had a higher rate of stone culture positivity (97.5% VS 78.4%, P < 0.001) and a shorter duration of preoperative antibiotics therapy (3.4 ± 2.7 days versus 4.2 ± 2.8 days, P = 0.037). The landscape of SIRS showed a declining trend as the elongation of preoperative antibiotics (P = 0.039). In a day-by-day comparison, SIRS was less prevalent in patients treated by pre-PCNL antibiotics ≥ 7 days than in those with antibiotics ≤ 6 days (21.7% VS 40.8%, P = 0.017). Multivariable logistic regression confirmed positive stone culture (P = 0.001, OR 11.115) as an independent risk factor and pre-PCNL antibiotics ≥ 7 days (P = 0.048, OR 0.449) as an independent protective factor for SIRS. Preoperative antibiotic ≥ 7 days decreased SIRS from 45.4 to 27.8% and from 9.1 to 0% in patients with a positive and negative stone culture, respectively.
CONCLUSION
Exceeding seven days should be appropriate duration of antibiotic therapy before PCNL in patients with positive urine cultures.
Topics: Adult; Aged; Antibiotic Prophylaxis; Bacterial Infections; Female; Humans; Kidney Calculi; Male; Middle Aged; Nephrolithotomy, Percutaneous; Postoperative Complications; Preoperative Period; Prospective Studies; Time Factors; Urine
PubMed: 34550426
DOI: 10.1007/s00345-021-03834-y -
Spinal Cord Mar 2022A retrospective cohort study.
STUDY DESIGN
A retrospective cohort study.
OBJECTIVES
To document the prevalence of asymptomatic bacteriuria and to characterize the resistance patterns to antibiotics among children with neurogenic bladder who require clean intermittent catheterization, with an emphasis on multidrug resistance.
SETTING
A national referral pediatric and adolescent rehabilitation facility in Jerusalem, Israel.
METHODS
Routine urine cultures were collected before urodynamic studies in suitable individuals during 2010-2018. None of them had symptoms of urinary tract infection at the time of specimen collection. Cultures were defined as being positive if a single bacterial species was isolated together with a growth of over 10 colony-forming units/ml. Resistance patterns were defined as extended-spectrum beta-lactamase (ESBL) and resistant to 3 antimicrobial groups (multi-drug resistant, MDR).
RESULTS
In total, 281 urine cultures were available for 186 participants (median age 7 years, range 0.5-18). Etiologies for CIC included myelomeningocele (n = 137, 74%), spinal cord injury (n = 16, 9%) and caudal regression syndrome (n = 9, 5%). Vesicoureteral reflux was diagnosed in 36 participants (19%), 14 of whom were treated with prophylactic antibiotics. Asymptomatic bacteriuria was present in 217 specimens (77%, 95%CI [0.72-0.82]). The bacteria species were E. coli (71%), Klebsiella (13%), and Proteus (10%). ESBL was found in 11% of the positive cultures and MDR in 9%, yielding a total of 34 (16% of positive cultures) positive for ESBL and/or MDR bacteria.
CONCLUSIONS
Asymptomatic bacteriuria and resistance to antimicrobials are common in pediatric individuals who require CIC.
Topics: Adolescent; Anti-Bacterial Agents; Bacteriuria; Child; Child, Preschool; Drug Resistance, Microbial; Escherichia coli; Humans; Infant; Intermittent Urethral Catheterization; Retrospective Studies; Spinal Cord Injuries; Urinary Bladder, Neurogenic; Urinary Catheterization; Urinary Tract Infections
PubMed: 34446838
DOI: 10.1038/s41393-021-00679-5