Familial Pityriasis Rubra Pilaris: Case Report and Review

Background: Pityriasis rubra pilaris (PRP) is a rare dermatosis of unknown etiology. Most cases of PRP are sporadic; however, rare cases of familial PRP have been reported. Objectives: To present a case of PRP inherited in an autosomal dominant (AD) fashion and to evaluate the current literature on familial PRP and formulate a comprehensive, up-to-date summary of this rare condition. Methods: PubMed was used to conduct a search for articles pertaining to familial PRP published through May 2011. Results: The first documented case was published in 1910, and 36 subsequent familial cases of PRP have been reported. Familial PRP typically presents very early in childhood, has a gradual onset, and persists throughout life. Given the rarity of this subtype, determining the best therapy has been a challenge. In the pediatric population, a conservative treatment approach, including topical therapy, is frequently used, whereas systemic treatments are reserved for patients with a severe disease that is refractory to therapy. Conclusion: Rare cases of PRP inherited in an AD fashion have been described and tend to have a chronic clinical course and are treatment refractory. Therefore, the awareness of familial PRP is important for early and accurate diagnosis and administration of appropriate therapy.

Download Full-text

Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications

Acta Endocrinologica ◽

10.1530/eje-14-0959 ◽

2015 ◽

Vol 172 (6) ◽

pp. 715-723 ◽

Cited By ~ 10

Author(s):

Julie Harvengt ◽

Priscilla Boizeau ◽

Didier Chevenne ◽

Delphine Zenaty ◽

Anne Paulsen ◽

...

Keyword(s):

Pediatric Population ◽

Severe Disease ◽

Antithyroid Drug ◽

Rare Condition ◽

University Hospital ◽

Graves Disease ◽

Therapeutic Implications ◽

Group I ◽

Median Serum ◽

Group Ii

ObjectiveTo assess in a pediatric population, the clinical characteristics and management of triiodothyronine-predominant Graves' disease (T3-P-GD), a rare condition well known in adults, but not previously described in children.DesignWe conducted a university hospital-based observational study.MethodsAll patients with GD followed for more than 1 year between 2003 and 2013 (n=60) were included. T3-P-GD (group I) was defined as high free T3 (fT3) concentration (>8.0 pmol/l) associated with a normal free thyroxine (fT4) concentration and undetectable TSH more than 1 month after the initiation of antithyroid drug (ATD) treatment. Group II contained patients with classical GD without T3-P-GD.ResultsEight (13%) of the patients were found to have T3-P-GD, a median of 6.3 (3.0–10.5) months after initial diagnosis (n=4) or 2.8 (2.0–11.9) months after the first relapse after treatment discontinuation (n=4). At GD diagnosis, group I patients were more likely to be younger (6.8 (4.3–11.0) vs 10.7 (7.2–13.7) years) and had more severe disease than group II patients, with higher serum TSH receptor autoantibodies (TRAb) levels: 40 (31–69) vs 17 (8–25) IU/l, P<0.04, and with slightly higher serum fT4 (92 (64–99) vs 63 (44–83) pmol/l) and fT3 (31 (30–46) vs 25 (17–31) pmol/l) concentrations. During the 3 years following T3-P-GD diagnosis, a double dose of ATD was required and median serum fT4:fT3 ratio remained lower in group I than in group II.ConclusionSevere hyperthyroidism, with particularly high TRAb concentrations at diagnosis, may facilitate the identification of patients requiring regular serum fT3 determinations and potentially needing higher doses of ATD dosage during follow-up.

Download Full-text

Corticosteroids in Inflammatory Bowel Disease patients: a practical guide for physicians.

Current Clinical Pharmacology ◽

10.2174/1574884715666200714114044 ◽

2020 ◽

Vol 15 ◽

Author(s):

Maria Carla Di Paolo ◽

Cristiano Pagnini ◽

Maria Giovanna Graziani

Keyword(s):

Severe Disease ◽

Unknown Etiology ◽

History Of Disease ◽

Bowel Diseases ◽

Literature Evidence ◽

History Of ◽

Inflammatory Bowel ◽

Favorable Safety ◽

Pass Metabolism

: Inflammatory bowel diseases (IBDs) are chronic conditions characterized by unknown etiology and pathogenesis with deregulation of mucosal immunity. Among possible treatments, corticosteroids, already available from the 50’, are still the mainstay of treatment for moderate-severe disease. Nonetheless, the use of steroids is still largely empirical and solid evidence about therapeutic schemes are lacking. Moreover, due to the important side-effects and for the unsatisfactory impact on long-term natural history of disease, the steroid sparing has become an important therapeutic goal in IBD management. Besides conventional steroids, the so called “low bioavailability” steroids, which are steroids with high affinity for peripheral receptors and elevated hepatic first-pass metabolism, have demonstrated efficacy and more favorable safety profile. In the present review of the literature evidence of efficacy and safety of conventional and low bioavailability steroids in IBD patients are evaluated, and practical suggestions for a correct use in clinical practice are presented according to the current clinical guidelines.

Download Full-text

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽

10.1177/27325016211005062 ◽

2021 ◽

pp. 273250162110050

Author(s):

Samuel Ruiz ◽

Rizal Lim

Keyword(s):

Pediatric Population ◽

Rare Complication ◽

Disease Process ◽

Rare Condition ◽

External Drainage ◽

Direct Extension ◽

Life Threatening ◽

History Of ◽

High Index Of Suspicion ◽

Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

Download Full-text

Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

Case Reports in Dermatology ◽

10.1159/000511370 ◽

2020 ◽

Vol 12 (3) ◽

pp. 231-235

Author(s):

Carl Maximilian Thielmann ◽

Wiebke Sondermann

Keyword(s):

Case Report ◽

Family History ◽

Clinical Presentation ◽

Rare Condition ◽

Unknown Etiology ◽

Review Of The Literature ◽

Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

Download Full-text

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred

Endocrine ◽

10.1007/s12020-021-02830-x ◽

2021 ◽

Author(s):

Carlotta Marzocchi ◽

Silvia Cantara ◽

Alfonso Sagnella ◽

Maria Grazia Castagna ◽

Marco Capezzone

Keyword(s):

Diabetes Insipidus ◽

Missense Mutation ◽

Autosomal Dominant ◽

Three Dimensional ◽

Rare Condition ◽

Central Diabetes Insipidus ◽

Disulfide Bridges ◽

Italian Family ◽

Avp Gene

Abstract Purpose Familial neurohypophysial diabetes insipidus (FNDI), commonly caused by autosomal dominant arginine vasopressin (AVP) mutations, is a rare condition in which vasopressin fails in regulating body’s level of water with final polyuria and polydipsia. Genetic testing in familial cases of FNDI should be carry out to ensure adequate treatments and avoid disease manifestations especially in infants. Methods In this study, we investigated three-generations of a large Italian family with clinical diagnosis of familial central diabetes insipidus for the presence of potential pathogenic mutations in the AVP gene. Results We identified a heterozygous missense mutation (c.154 T > A; p.C52S) in AVP gene in all affected members studied of a large Italian family. In silico tools were used to investigate the pathogenic role of the mutation and three-dimensional protein structure predicted that the p.C52S impairs disulfide bridges formation resulting in misfolding of the protein. Conclusions This is the first study that identified a novel missense p.C52S mutation as causative of central diabetes insipidus in a large Italian pedigree.

Download Full-text

A Case Report of Pediatric Geniculate Neuralgia Treated with Sectioning of the Nervus Intermedius and Microvascular Decompression of Cranial Nerves IX and X

Pediatric Neurosurgery ◽

10.1159/000509760 ◽

2020 ◽

Vol 55 (6) ◽

pp. 439-443

Author(s):

Georgios Zenonos ◽

Michael M. McDowell ◽

Hussam Abou-Al-Shaar ◽

Kenan Alkhalili ◽

Paul A. Gardner

Keyword(s):

Microvascular Decompression ◽

Pediatric Population ◽

English Literature ◽

Posterior Inferior Cerebellar Artery ◽

Cranial Nerves ◽

Rare Condition ◽

Extensive Evaluation ◽

Patient Reported ◽

Nervus Intermedius

Background: Classic geniculate neuralgia (GN) is a rare condition characterized by lancinating pain centered in the ear and not involving the throat. To the best of our knowledge, no case of pediatric GN has been reported in the English literature. Case Presentation: We present the first reported case of successfully treated GN in a child via an endoscopic approach. The patient was a 9-year-old boy who presented with a 1-year history of lancinating right ear pain. Neuroleptics resulted in a short-lived improvement in symptoms, but with significant side effects. Extensive evaluation by multiple specialties did not reveal a cause for his pain. Imaging disclosed a tortuous loop of the right posterior inferior cerebellar artery abutting cranial nerves IX and X but no other abnormalities. The patient underwent an endoscopic microvascular decompression of cranial nerves IX and X, and sectioning of the nervus intermedius through a right retromastoid craniotomy. Postoperatively, the patient reported complete resolution of his symptoms that persisted at 3 months of follow-up. At the 5-year follow-up, the patient maintained pain relief and was developing normally. Conclusion: GN can affect the pediatric population. In carefully selected patients with consistent clinical and radiographic presentation, sectioning of the nervus intermedius and microvascular decompression of the lower cranial nerves can be an effective treatment.

Download Full-text

546 Management of Pediatric Pavement Burns

Journal of Burn Care & Research ◽

10.1093/jbcr/irab032.196 ◽

2021 ◽

Vol 42 (Supplement_1) ◽

pp. S121-S122

Author(s):

Syed F Saquib ◽

Paul J Chestovich ◽

Joseph T Carroll ◽

Carmen E Flores

Keyword(s):

Ambient Temperature ◽

Average Length ◽

Topical Therapy ◽

Total Body Surface Area ◽

High Ambient Temperature ◽

Unknown Etiology ◽

Oral Antibiotic ◽

Superficial Infection ◽

Plantar Aspect

Abstract Introduction Pavement burns are common in a dry high heat climate. This study reviews the etiology, management and outcome of pavement burns in children. Methods All patients age < 18 who suffered contact burns from hot pavement from Jan 1, 2014 to Dec 31, 2019 were reviewed. A total of 45 patient charts met inclusion criteria. High ambient temperature on each date, and zip code of each injury was extracted from Weather Underground (www.wunderground.com) Results In this study, 45 patients met criteria and were reviewed, of whom 27 patients (60%) were male. Average age was 3.29 years (SD 0.69), made up two discrete age groups: age under 3 (n= 40, 89%) and 14+ (n=5, 11%). 38 patients (84%) had no known medical history. All had 2nd degree burns and one patient (2%) had third degree burns. Mean total body surface area (TBSA) was 2.5% (SD 1.4%, range 0.75% to 5.5%). Burn etiology included 31 patients (69%) walking barefoot on pavement, 6 (13%) falling onto pavement, and other/unknown etiology for the remaining 8 patients (18%). 30 patients (67%) had injuries on the plantar aspect of bilateral feet, 2 (4%) to bilateral palms of hands, 4 (9%) to other parts of upper extremities and 10 (22%) to other parts of lower extremities. Thirty-four (34) patients (76%) were managed without any hospitalization. Those that were hospitalized had an average length of stay (LOS) of 2.72 days (range 1–9 days). All burns were managed non-operatively with topical therapy alone. 35 patients (78%) were managed initially with Silvadene, and 6 (13%) with bacitracin. Aquacel was utilized in 10 patients at a follow-up visit (22%). Three patients (6.7%) were treated with collagenase enzyme therapy. One patient developed a superficial infection requiring oral antibiotic therapy. There were no mortalities in this group. The high ambient temperature on date and location of each injury was 101 F (SD 1.10 F, range 73F-111F). Of the thirty that continued to follow up in clinic, the average time to the burn being 95% healed was 10.50 days (SD 8.97 days, range 2–40 days). Conclusions Pavement burns in children are partial thickness and are safely managed with topical therapy alone, with good outcomes. Patients age 3 and under are a vulnerable population and therefore at particular risk of injury.

Download Full-text

Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

Атеросклероз ◽

10.52727/2078-256x-2021-17-4-74-78 ◽

2022 ◽

Vol 17 (4) ◽

pp. 74-78

Author(s):

N. G. Lozhkina ◽

A. N. Spiridonov

Keyword(s):

Myocardial Infarction ◽

Familial Hypercholesterolemia ◽

Clinical Case ◽

Autosomal Dominant ◽

Clinical Symptoms ◽

Cholesterol Metabolism ◽

Single Gene ◽

Low Density Lipoproteins ◽

Dominant Disease ◽

Appropriate Therapy

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

Download Full-text

Monogenic Causes of Strokes

Genes ◽

10.3390/genes12121855 ◽

2021 ◽

Vol 12 (12) ◽

pp. 1855

Author(s):

Justyna Chojdak-Łukasiewicz ◽

Edyta Dziadkowiak ◽

Sławomir Budrewicz

Keyword(s):

Autosomal Recessive ◽

Genetic Factors ◽

Autosomal Dominant ◽

Small Vessel Disease ◽

Clinical Phenotype ◽

Single Gene ◽

Monogenic Disorders ◽

Single Gene Disorders ◽

Appropriate Therapy

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

Download Full-text

Respiratory syncytial virus and airway microbiota -- A complex interplay and its reflection on morbidity

10.22541/au.160638847.70128113/v1 ◽

2020 ◽

Author(s):

Giovanni Rossi ◽

Stefania Ballarini ◽

Michela Silvestri ◽

Oliviero Sacco ◽

Andrew Colin

Keyword(s):

Respiratory Syncytial Virus ◽

Disease Severity ◽

Respiratory Infections ◽

Pediatric Population ◽

Bacterial Species ◽

Severe Disease ◽

Microbial Community Composition ◽

Positive Role ◽

Syncytial Virus ◽

Tract Infections

The immunopathology of respiratory syncytial virus (RSV) infection, the most common cause of lower respiratory tract infections (LRTI) in the pediatric population, with severe disease being the exception. The variability of the clinical presentation is incompletely explained by host, viral and environmental factors but, in infants and young children, disease severity is certainly linked to the physiological immune immaturity. There is evidence that the maturation of the host immune response is, at least in part, promoted by the composition of the nasopharyngeal microbiome that, modulating excessive inflammation, can counteract the predisposition to develop viral respiratory infections and lower the risk of disease severity. However, interaction between the nasopharyngeal microbiota and respiratory viruses can be bidirectional. Microbial dysbiosis can drive disease pathogenesis but may also represents a reflection of the disease-induced alterations of the local milieu. Moreover, viruses like RSV, can also increase the virulence of potential pathogens in nasopharynx, which is a main reservoir of bacteria, and therefore promote their spread to the lower airways causing superinfection. Negative changes in microbial community composition in early life may constitute a heightened risk towards severe RSV respiratory infection and bacterial superinfection, whilst specific groups of microorganisms can be associated with protection. A better understanding into the potential negative and positive role of the different nasopharyngeal bacterial species in disease prevention as well as into the possible benefits of microbiome therapeutic manipulation, may improve patient outcomes.

Download Full-text