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Children
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Challenges of Rare Diseases in Children
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Challenges of Rare Diseases in Children

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Global Pediatric Health".

Deadline for manuscript submissions: closed (15 August 2022) | Viewed by 33029

Special Issue Editors

Dr. Vito Romano

E-Mail Website
Guest Editor
1. Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, Ophthalmology Clinic, University of Brescia, Brescia, Italy
2. Department of Eye and Vision Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK
Interests: cornea; ocular surface; corneal transplantation; endothelial keratoplasty; anterior lamellar keratoplasty; keratoconus; imaging; innovative technique; corneal neovascolarization
Dr. Michele Callea

E-Mail Website
Guest Editor
Meyer Children's University Hospital, Florence, Italy
Interests: dentistry; oral health; oral hygiene; oral medicine; oral biology; dental care; pediatric dermatology; ectodermal dysplasia; hypodontia; hyperdontia; oral manifestations in rare diseases; cleidocranial dysplasia; amelogenesis imperfecta; dentinogenesis imperfecta; x linked reticulated pigmentary disorder; turner syndrome; williams-beuren syndrome; alagille syndrome; neurofibromatosis; cornelia de lange syndrome; allgrove syndrome; developmental biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare diseases are a complex of over 5000 pathologies that represent 10% of the entire human pathology. In 2001, the European Commission decided to consider those pathologies whose incidence does not exceed 5 cases per 10,000 inhabitants as rare. A total of 80% of rare diseases are of genetic origin. Rare diseases have in common:

a) Chronic and disabling features that have social implications; 

b) Challenges in diagnosis;

c) Difficulty in treating: often, there are no effective therapies and no targeted drugs are available (due to the limited market, there is little interest in developing the research and production of so-called orphan drugs);

d) A limited number of specialized centers for diagnosis and treatment;

e) Difficulties in identification and access to patients;

f) Fragmentation of patients between centers, which is an obstacle to controlled clinical trials and consequently to therapeutic innovations. 

As 80% of rare diseases are of genetic origin, most of them occur in pediatric patients. 

We would be delighted if you agreed to be one of the authors of this initiative. Furthermore, we would be happy to accept your suggestion for a title on a topic in which you are an expert.

Aim and scope of the Special Issue:

To create a wider knowledge in rare diseases, a field often neglected, in a multidisciplinary way.

Cutting-edge research:

As 80% of rare diseases are of genetic origin, most of them occur pediatric patients. 

The introduction of gene therapy into the clinic is a major game changer in the field of the diagnosis and therapy of rare genetic diseases. 

The kind of papers we are soliciting:

Reviews, and original research article related to all aspects of rare diseases.

Dr. Vito Romano
Dr. Michele Callea
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare diseases
  • multisystemic manifestations
  • aniridia
  • ocular anterior segment dysgenesis
  • ocular posterior segment dysgenesis
  • hypodontia
  • hyperdontia
  • ectoderma
  • ocular disorders
  • Meibomian glands disease
  • skin
  • dental defects
  • nails

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Published Papers (9 papers)

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Editorial

Jump to: Research, Review, Other

2 pages, 175 KiB  
Editorial
Challenges in Communicating a Genetic Diagnosis
by Francisco Cammarata-Scalisi, Colin Eric Willoughby, Vito Romano and Michele Callea
Children 2023, 10(4), 672; https://doi.org/10.3390/children10040672 - 31 Mar 2023
Viewed by 1338
Abstract
Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and disorientation for the family group, [...] Read more.
Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and disorientation for the family group, and sometimes in an inappropriate environment or under time constraints [...] Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)

Research

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10 pages, 257 KiB  
Article
Clinical Findings in Children with Noonan Syndrome—A 17-Year Retrospective Study in an Oral Surgery Center
by Anna Janas-Naze, Konrad Malkiewicz and Wei Zhang
Children 2022, 9(10), 1486; https://doi.org/10.3390/children9101486 - 28 Sep 2022
Cited by 3 | Viewed by 1819
Abstract
To date, only a limited number of publications have studied the specific oral and maxillofacial findings in patients diagnosed with Noonan syndrome (NS), which is an example of a genetically heterogeneous RASopathy. In this retrospective study, we aimed to ascertain the genotype–phenotype correlations [...] Read more.
To date, only a limited number of publications have studied the specific oral and maxillofacial findings in patients diagnosed with Noonan syndrome (NS), which is an example of a genetically heterogeneous RASopathy. In this retrospective study, we aimed to ascertain the genotype–phenotype correlations between genetic mutations and certain diagnoses in the field of oral surgery. We collected surgical and genetic data from 42 children (median age, 12 years) who had a confirmed diagnosis of NS and underwent surgery in the Department of Oral Surgery, Medical University of Lodz, over a 17-year period, from 2004 to 2021. In total, 17 patients with mutations of the PTPN11 gene were diagnosed with over-retained deciduous teeth and supernumerary teeth. An amount of 7 patients with mutations of the SOS1 gene were diagnosed with mandibular compound odontomas. Finally, 12 patients with mutations of the LZTR1 gene were diagnosed with bilateral or unilateral central giant cell granulomas in the mandible. Although craniofacial features of many genetic disorders have been previously described in the literature, this study determined the genotype–phenotype correlations in the field of oral surgery. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
15 pages, 1324 KiB  
Article
Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database
by Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond and Helen Leonard
Children 2022, 9(5), 633; https://doi.org/10.3390/children9050633 - 28 Apr 2022
Cited by 6 | Viewed by 4548
Abstract
Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to [...] Read more.
Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). We report a higher frequency of pneumonia, bronchitis, bronchiolitis, gastroesophageal reflux and slow gut motility in males compared to females. We further examine the prevalence of other medical comorbidities such as epilepsy, gastrointestinal problems, feeding difficulties, scoliosis, bone fractures, sleep apnoea, autonomic disturbance and decreased pain sensitivity. A novel feature of urinary retention is reported and requires further investigation. Further research is required to understand the developmental trajectory of this disorder and to examine the context of these medical comorbidities in a quality of life framework. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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7 pages, 507 KiB  
Communication
Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement
by Dror Kraus, Huda Abdelrahim, Orith Waisbourd-Zinman, Elena Domin, Avraham Zeharia and Orna Staretz-Chacham
Children 2022, 9(4), 545; https://doi.org/10.3390/children9040545 - 12 Apr 2022
Cited by 4 | Viewed by 2822
Abstract
Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of [...] Read more.
Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of their workup during the first four months of life. In eight of nine (89%) patients, serum AFP demonstrated elevated levels. Seven infants displayed marked elevations, ranging from 4 to 300 times the upper limit for age-adjusted norms. In most patients, AFP levels peaked during the initial test and declined over time as cholestasis resolved. We conclude that elevated AFP levels are a common, although non-specific, marker for NPC-associated liver disease. These findings demonstrate the benefit of including AFP levels in the workup of neonatal liver disease, especially if there is accompanied cholestasis and if NPC is suspected. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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Review

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13 pages, 609 KiB  
Review
The Clinical Management of Pompe Disease: A Pediatric Perspective
by Jorge Sales Marques
Children 2022, 9(9), 1404; https://doi.org/10.3390/children9091404 - 16 Sep 2022
Cited by 9 | Viewed by 4544
Abstract
Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. [...] Read more.
Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. PD can be classified into two classic forms, namely infantile-onset PD (IOPD) and late-onset PD (LOPD). Delayed treatment, particularly in IOPD, would result in significant organ damage and early death. Nonetheless, early diagnosis and timely treatment are often hampered by the rarity of PD and its wide variety of, but overlapping, symptoms. This article reviews the common clinical presentations of PD and outlines the essentials of PD management. In particular, the implications of newborn screening (NBS) and clinical performance of enzyme replacement therapy (ERT) are highlighted. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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Graphical abstract

10 pages, 472 KiB  
Review
Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
by Michele Callea, Stefano Bignotti, Francesco Semeraro, Francisco Cammarata-Scalisi, Jinia El-Feghaly, Antonino Morabito, Vito Romano and Colin E. Willoughby
Children 2022, 9(9), 1357; https://doi.org/10.3390/children9091357 - 6 Sep 2022
Cited by 7 | Viewed by 2748
Abstract
The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat [...] Read more.
The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated to affect at least 1 in 17,000 people worldwide. Patients with HED have characteristic facies with periorbital hyperpigmentation, depressed nasal bridge, malar hypoplasia, and absent or sparse eyebrows and eyelashes. The common ocular features of HED include madarosis, trichiasis, and ocular chronic surface disease due to dry eye syndrome, which manifests clinically with discomfort, photophobia, and redness. Dry eye is common in HED and results from a combination of ocular surface defects: mucus abnormalities (abnormal conjunctival mucinous glands), aqueous tear deficiency (abnormalities in the lacrimal gland) and lipid deficiency (due to the partial or total absence of the meibomian glands; modified sebaceous glands with the tarsal plate). Sight-threatening complications result from ocular surface disease, including corneal ulceration and perforation with subsequent corneal scarring and neovascularization. Rare ocular features have been reported and include bilateral or unilateral congenital cataracts, bilateral glaucoma, chorioretinal atrophy and atresia of the nasolacrimal duct. Recognition of the ocular manifestations of HED is required to perform clinical surveillance, instigate supportive and preventative treatment, and manage ocular complications. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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Other

6 pages, 465 KiB  
Case Report
From the Difficult Airway Management to Diagnosis of Retropharyngeal Synovial Cell Carcinoma
by Joanna Maria Jassem-Bobowicz, Ewa Magdalena Sokołowska, Katarzyna Monika Hinca, Izabela Drążkowska and Katarzyna Stefańska
Children 2022, 9(9), 1361; https://doi.org/10.3390/children9091361 - 7 Sep 2022
Cited by 1 | Viewed by 1677
Abstract
Respiratory complications are among the most common problems addressed in neonatology in the first hours after birth, whereas the risk of any cancer in the neonatal period is 28 per million. Sarcomas, malignant mesenchymal neoplasms, account for about 8% of all neoplasms in [...] Read more.
Respiratory complications are among the most common problems addressed in neonatology in the first hours after birth, whereas the risk of any cancer in the neonatal period is 28 per million. Sarcomas, malignant mesenchymal neoplasms, account for about 8% of all neoplasms in the neonatal period. We report on a male neonate born at 36 + 4/7 weeks of gestation, diagnosed with retropharyngeal synovial carcinoma. Ineffective respiratory movements and generalized cyanosis were the first symptoms to be noted. On the ultrasound examination of the neck, a tumor of the retropharyngeal space was exposed, then visualized by an MRI of the head and neck. The biopsy analysis revealed the diagnosis of an extremely rare tumor in a neonate. The location of its growth was atypical, contributing to a diagnostic challenge. The neoplasm was treated solely with chemotherapy concordantly with the CWS protocol, individually customized for our patient. Preterm birth, as in our case, 36 + 4/7 weeks of gestation, may imply a possible need for resuscitation or support in the transition period. Aggressive high-grade tumors of the head and neck region are locally invasive and prone to metastasize. However, prognosis in infants is hard to estimate, therefore both individualized treatment and multidisciplinary care should be tailored to the needs of the patient. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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13 pages, 578 KiB  
Systematic Review
Deletion Syndrome 22q11.2: A Systematic Review
by Jonathan Cortés-Martín, Nuria López Peñuela, Juan Carlos Sánchez-García, Maria Montiel-Troya, Lourdes Díaz-Rodríguez and Raquel Rodríguez-Blanque
Children 2022, 9(8), 1168; https://doi.org/10.3390/children9081168 - 3 Aug 2022
Cited by 31 | Viewed by 7295
Abstract
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities [...] Read more.
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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8 pages, 1943 KiB  
Case Report
Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report
by Min Jeong Jang and Moon Bae Ahn
Children 2022, 9(4), 547; https://doi.org/10.3390/children9040547 - 12 Apr 2022
Cited by 2 | Viewed by 4392
Abstract
Fibroblast growth factor receptors (FGFRs) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in FGFRs disrupts the formation of endochondral bony structure by reducing the number of proliferating [...] Read more.
Fibroblast growth factor receptors (FGFRs) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in FGFRs disrupts the formation of endochondral bony structure by reducing the number of proliferating chondrocytes. Among the syndromes caused by mutation in the FGFR gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. We describe the case of a 4-year-old girl with short stature, advanced bone age, wide thumbs and great toes. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the FGFR2 gene. Standard deviation score of her height increased after starting growth hormone therapy. This report will raise awareness of the growth hormone provocation test regardless of bone age in patients with short stature founded FGFR gene mutation. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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