Pebbling of skin: Cutaneous marker of Hunter syndrome

Srinivas, Sahana M; Maganthi, Madhuri; Sanjeev, G.N.

doi:10.4103/2229-5178.198772

Cited by 7 publications

(6 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In accordance with previous results, we observed that most of these novelties were not assessed in subsequent clinical studies after five years from the publication of the case report [13]. Importantly, the new studies assessing these proposals were usually case reports [31,50,51,57,59,60]. Therefore, the evidence and innovations provided by case reports will take a long time to be incorporated into clinical studies on rare diseases [13].…”

Section: Discussionsupporting

confidence: 86%

“…(3) Effects in pebbling skin lesions [26,27] Case report (Srinivas SM et al, 2017) [51] No clinical study after 8 years (4) Effects in hyperactivity, aggressive behavior, language functioning, and social interaction [28] No clinical study after 7 years No clinical study after 7 years [30,31] Case report Scarpa et al, 2017 Bonanni et al, 2014 [57,58] No clinical study after 8 years 7ERT effects in vision [32,33] Case report (Yamanishi R et al, 2019) [59] No clinical study after 5 years (8) ERT effect in autoimmune anemia, thrombocytopenia, or thrombocytopenic purpura [34,35] Case report (Alcántara-Ortigoza et al, 2016) [60] No clinical study after 8 years (9) Botulinum Toxin for the treatment of equinus deformity with an ERT [36] No new citations No clinical study after 8 years (10) ERT effects in involuntary movements (chorea) [37] No new citations No prospective study after 12 years (11) Early ERT effects in bone abnormalities [38] Cohort study (Manara R [39][40][41][42][43][44][45][46][47][48][49]. ** This study analyzed two novelties proposed by previous case reports.…”

Section: Secondary Outcomesmentioning

confidence: 99%

“…Novelties proposed in case reports of ERT in MPS-II patients and in clinical studies citing these case reports. References [ 16 , 17 , 18 , 19 , 20 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , …”

mentioning

confidence: 99%

See 2 more Smart Citations

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2020

IJERPH

View full text Add to dashboard Cite

Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

show abstract

Section: Discussionsupporting

confidence: 86%

Section: Secondary Outcomesmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2020

IJERPH

View full text Add to dashboard Cite

show abstract

“…1), which has been previously reported in the literature. [19][20][21][22] Three cases of I-cell diseases (mucolipidosis II/III) presented with coarse facies, short stature, gingival hyperplasia, multiple dysostosis complex on radiographs, and negative toluidine blue test. In one of I-cell diseases, we could identify the disease-causing mutation that has been published.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

2020

View full text Add to dashboard Cite

Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected from the genetic clinic at tertiary care center in Eastern Uttar Pradesh. The data for analysis were collected retrospectively from genetic records from a follow-up clinic. All cases < 18 years of age were analyzed. Cases with LSDs with confirmed enzyme results were enrolled in this study. Clinical profile, screening test results, and outcome were collected. There were 32 cases including 27 males and 5 females in this cohort: 8 Gaucher disease (GD) patient and 24 non-GD patients. GD (type 1) is the commonest LSD in GD group. Anemia, thrombocytopenia, splenomegaly, and hepatomegaly were the consistent finding in patients with GD (type 1). L483P mutation was reported in two GD patients. One GD patient is on enzyme replacement therapy for 2 years and is currently doing well. The commonest disorders in non-GD were mucopolysaccharidosis (MPS) (n = 11), metachromatic leukodystrophy (n = 4), I-cell disease (n = 3), Niemann-Pick A/B (n = 3). MPS-II is the commonest MPS among non-GD group.

show abstract

“…Additional cutaneous findings include hypertrichosis and dermal hypermelanosis. 4 The diagnosis is established through estimation of IDS in the serum or cells (such as fibroblasts and leukocytes) and is confirmed via genetic testing. 1,2 Treatment options include supportive care, hematopoietic stem cell transplant, gene therapy, and enzyme replacement therapy with recombinant IDS.…”

mentioning

confidence: 99%