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Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."
Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011
Dr. Shankar P.R.
"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."
Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011 Anuradha
Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.
Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020
Case report
Full Version
Rapp-Hodgkin Syndrome: A Case Report on its Clinical and Dental Manifestations
Correspondence Address :
Dr. Anwesha Biswas,
Staff Quarters, Room No-12,Guru Nanak Institute of Dental Sciences and Research, Kolkata-700110, West Bengal, India.
E-mail: anwesha.biswas@gnidsr.ac.in
Rapp-Hodgkin Syndrome (RHS) is a rare heterogeneous disorder characterised by ectodermal abnormalities primarily affecting the skin, teeth, eyes, hair and appendages. It is a type of Anhidrotic Ectodermal Dysplasia (AED) associated with clefts of the lip, palate and alveolus. Affected areas include the skin, hair, teeth, mouth, jaws, nails, eyes and ears. The authors present a case of RHS in a 13-year-old male who complained of deformed teeth, reduced sweating and heat intolerance. Clinical findings included sparse, thin hair on the scalp and eyebrows, sparse eyelashes, epiphora, discoloured scaly skin, a deformed pinna, microstomia, trismus, a cleft lip scar, hyponychia and a deficient maxilla. Intraoral examination showed oligodontia and misshapen teeth, along with a depapillated tongue. The patient had previously undergone cleft lip and palate surgery, ankyloblepharon release, adenoid surgery, and ear surgery at a younger age. Radiographically, there was evidence of cleft alveolus, retained deciduous teeth, impacted teeth and oligodontia. Although the patient had a normal karyotype, histopathological examination of the skin showed hyperkeratosis, acanthosis, follicular plugging, and increased pigmentation of the basal cell layer. Considering this amalgamation of signs and symptoms, a diagnosis of RHS was made, which necessitates a multidisciplinary approach for treatment. This patient will require a multidisciplinary approach to address his complaints. The authors reported the present case because it represents a rare type of ectodermal dysplasia, which is important for any physician’s knowledge due to its varied presentations.
Ankyloblepharon, Depapillated tongue, Hay-Wells syndrome, Oligodontia
A 13-year-old male presented in the Outpatient Department (OPD) with spacing between his teeth, difficulty in mastication, and complaints of dark discolouration of skin, decreased sweating and intolerance to heat. Additionally, his parents noted that he exhibited facial deformities, premature greying of hair, and loss of teeth. His medical history revealed that he was a known case of RHS. Histopathological examination of a skin biopsy conducted in 2013 revealed hyperkeratosis, acanthosis, follicular plugging, hyperpigmentation and a decrease in pilosebaceous follicles, leading to the diagnosis of RHS (Table/Fig 1). Karyotype analysis was normal (Table/Fig 2). There was no history of similar complaints in the family. Prior to the examination, the patient provided informed consent. The patient had undergone multiple surgeries, including cleft lip surgery at seven months of age, cleft palate surgery at three years of age, ankyloblepharon release at one month of age and adenoid surgery at ten years of age.
Extraoral examination revealed alopecia, scalp dermatitis, scanty grey hair, and sparse eyebrows, microtia, orofacial clefting, persistent epiphora, a depressed nasal bridge, frontal bossing, an elongated head, midfacial hypoplasia, cracked lips, dark-coloured skin and dystrophic nails (Table/Fig 3),(Table/Fig 4).
Oral examination revealed oligodontia, hypoplastic teeth and screwdriver-shaped incisors (Table/Fig 5). There were malposed teeth with a crossbite of the maxillary teeth, delayed eruption, microglossia, a depapillated, grooved tongue, restricted mouth opening and an open mouth posture (Table/Fig 6). A few deciduous teeth were retained and multiple decayed teeth and root stumps were noted (Table/Fig 7). The temporomandibular joint showed no abnormalities.
Radiographic analysis included panoramic radiography, lateral cephalogram, anteroposterior cephalogram and three-dimensional cone beam Computed Tomography (CT). The Orthopantomogram (OPG) examination revealed hypodontia, taurodontism in the mandibular right and left molar regions, a reduced enamel layer on all teeth, a retained deciduous tooth, partial anodontia, an erupting lower right premolar and a cleft alveolus (Table/Fig 8).
The lateral cephalogram and anteroposterior cephalogram showed midfacial hypoplasia, with a Class III tendency due to cleft-related maxillary deficiency and relative mandibular prognathism (Table/Fig 9),(Table/Fig 10). Three-dimensional imaging of the maxilla revealed malpositioned teeth 11 and 21, labially proclined teeth 11 and 21, partial anodontia and a unilateral cleft palate with a cleft alveolus on the right side (Table/Fig 11). In the mandibular arch, there was partial anodontia, missing tooth buds, over-retained teeth 84 and 74 and an erupting tooth 44 (Table/Fig 12).
A multidisciplinary approach was planned. Treatment commenced with oral hygiene instructions and dietary counselling, as the patient had widespread caries, necessitating oral prophylaxis. Pit and fissure sealants, composite restorations and root canal treatment were required. The patient was referred to a paediatric dentist. Extractions of root stumps and grossly decayed teeth were planned, followed by prosthodontic management after orthodontic consultation.
The RHS or Rapp-Hodgkin Ectodermal Dysplasia (RHED) is a rare autosomal dominant disorder (1),(2). The term Ectodermal Dysplasias (EDs) refers to a broad and complex group of diseases that includes different clinical conditions (3),(4). They are caused by defective epidermal appendage development and are characterised by a primary deficiency in two or more of the following tissues: hair, teeth, sweat glands and nails (5). This syndrome was first identified over thirty years ago when a case of a mother, daughter and son with AED, cleft palate, and cleft lip was reported (6). Few authors consider RHS and Hay-Wells disease as different spectrums of the same syndrome and suggest that they can be used interchangeably (7),(8). The most common downstream missense mutation in p63 that has been identified to date is an amino acid substitution (7).
The condition RHS is regarded as one of the disorders classified into the categories of orofacial clefting and ectodermal dysplasia. The most distinguishing characteristics of RHS are hypoplastic maxilla, pili torti and cleft palate (9). Several important clinical characteristics set RHS apart from others.
Traditionally, RHS can be distinguished from the other two ectodermal dysplasia syndromes that have a cleft palate based on clinical characteristics. Ectrodactyly-ectodermal dysplasia Cleft lip-palate (EEC) syndrome is known for the abnormal development of the middle fingers and toes, while AEC syndrome typically involves a collodion-like membrane at birth and strands of skin between the eyelids (10).
Lateral cephalometric analysis has shown midfacial hypoplasia to be a feature of RHS (10). This is a very important finding, as the assessment of current and proposed orofacial development affects the dental treatment plan.
Individuals with RHS may show symptoms such as reduced sweat glands, sparse hair on the scalp and eyebrows, thin eyelashes, excessive tearing, outward-rolling eyelids, discoloured scaly skin, abnormal ear shape with cleft lip and palate and underdeveloped nails. Moreover, extraoral findings consist of an elongated skull, lips that cannot close properly, a misshapen nose, wide-set eyes, and a prominent ridge above the eye sockets. Typically, mental retardation and sensory-neural deafness are not present (11). Intraoral examination generally reveals malocclusion, microglossia, oronasal fistula due to alveolar cleft, oligodontia, hypoplastic teeth, multiple retained teeth, caries and multiple impacted teeth. A familial tendency may be noted (10). Radiographic examination generally corroborate with the clinical features like retruded cleft maxilla, relatively prognathic mandible, alveolar cleft, hypoplastic teeth, malformed enamel layer, over-retained deciduous teeth, impacted teeth and carious teeth (10). This patient exhibited dental and general findings that were similar to the aforementioned signs and symptoms.
There is significant overlap between RHS and other ED, such as ankyloblepharon-ectodermal dysplasia-clefting (AEC, also called Hay-Wells syndrome) and EEC syndrome (12). AEC syndrome is characterised by the aberrant development of median rays in the hands and feet, syndactyly, as well as, ankyloblepharon filiforme adenatum, which refers to strands of skin between the eyelids, and a collodion-like membrane at birth. Some authors consider RHS and Hay-Wells disease to be different spectrums of the same syndrome and use the terms interchangeably (13).
To treat this syndrome, a multidisciplinary team is required, including a dentist, dermatologist, maxillofacial surgeon, otolaryngologist, plastic surgeon, ophthalmologist, paediatrician, audiologist, psychiatrist, speech therapist and others. It is necessary to reassure and instruct parents about the low rate of mental retardation (14). Treatment options include surgeries for cleft lip and palate, ear tube placement, ankyloblepharon release and maintenance of skin hygiene.
From a dental perspective, treatment may involve secondary alveolar bone grafting, repair of carious teeth, extraction of hopeless teeth, replacement of missing teeth using prosthetics and/or dental implants, coverage of hypoplastic hard tissue, and the use of salivary replacements, if dry mouth worsens (15).
In conclusion, the psychological effects of tooth loss, hair loss and facial deformity on these patients are the most important aspects to consider. Therefore, early diagnosis and a stepwise treatment plan with proper dental therapy are important factors in managing RHS.
The accuracy and comprehensiveness of the information are the authors’ responsibility. In regards to the conflict of interest, the writers stated they have nothing to reveal regarding the curiosity about this manuscript.
Author’s declaration: The case was presented at an International Speak Conference, which collaborated with JCDR held in June 2024.
DOI: 10.7860/JCDR/2024/74152.20309
Date of Submission: Jul 09, 2024
Date of Peer Review: Aug 05, 2024
Date of Acceptance: Sep 19, 2024
Date of Publishing: Nov 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Jul 10, 2024
• Manual Googling: Aug 31, 2024
• iThenticate Software: Sep 05, 2024 (05%)
ETYMOLOGY: Author Origin
EMENDATIONS: 7
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