60 e-Letters

published between 2019 and 2022

  • Selumetinib should be preferred to a surgical approach in case of extensive plexiform neurofibromas

    Dear Editor,
    we found the case report of Banthia et al. extremely interesting. First of all, penile plexiform neurofibromas are quite infrequent. Secondly, the subject described did not have a former clinical diagnosis of neurofibromatosis type I prior to the identification of this tumor, which is even rarer. However, we take exception to the therapeutic approach chosen by the authors. In fact, the surgical treatment of deep and extended plexiform neurofibromas is generally unsatisfactory, since their complete resection is frequently unattainable, allowing the masses to grow back (1-2). A partial tumor debulking should be considered only in case of high-risk conditions, such as a urethral or ureteral compression or a bowel obstruction. Apart from these scenarios, a medical approach should always be preferred, at least as a first attempt.
    Selumetinib, an inhibitor of MEK 1 and 2 kinase, has demonstrated to be effective in reducing the size of plexiform neurofibromas in pediatric patients (3-4). The drug is generally well tolerated and safe in the pediatric population. Only few patients failed to show a clinical response to the treatment and even fewer had to stop it due to the appearance of severe adverse events.
    In a recent study, we reported a cohort of nine patients with inoperable plexiform neurofibromas treated with selumetinib (5). Eight of them showed a partial response to the drug, i.e. a reduction of the tumor size by more than 20%. Remarkably, on...

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  • Association or coincidence?

    The authors describe a single patient who tested positive for SARS-Cov-2 and had sensorineural hearing loss.
    In their article they mention that the annual incidence of sudden sensorineural hearing loss (SSNHL) is between 5 and 160 patients per 100,000.
    The current population of the UK is 67.866.011 according to the latest data (https://www.worldometers.info/demographics/uk-demographics/, accessed 18th October 2020).
    This therefore suggests that there will be between 3,393 and 108,585 patients presenting with SSNHL in the UK this year. Accepting that we have not completed the year we can expect around 80% of the above figures to represent the expected incidence so far i.e. somewhere between 2,714 and 86,868 patients experiencing SSNHL.
    The estimated incidence of Covid in the UK population is 0.62%, or 1 in 160 people have so far had Covid.
    Therefore, purely by statistics alone, the number of patients with both Covid and SSNHL should lie somewhere between 17 and 543.
    Whilst the authors make no claim that in their presented case the Covid was directly responsible for the SSNHL it seems surprising that this article was published by the BMJ as it stands without the authors making any attempt to discern the true incidence of SSNHL in patients with Covid.

  • We're All Not the Same, But We're Still Family

    Dear Editor:
    We read with great interest the case report published by De Silva and Winship1 in the September 2020 issue of this journal. They reported the medical history of a 52-year-old male patient who fulfilled the revised Chompret clinical criteria for Li-Fraumeni syndrome (LFS) and carried a germline CHEK2 mutation (NM_007194.4:c.1100del, p.Thr367fs). The authors highlighted the possible link between CHEK2 germline mutations and a Li-Fraumeni like syndrome phenotype.
    The term Li-Fraumeni like syndrome (LFL) was introduced by Birch et al. in 1994 to describe LFS families who did not fulfill the classical LFS criteria, but carried a TP53 germline mutation.2,3 Nevertheless, germline mutations in TP53 gene may not detected in some families with clinical diagnosis of the syndrome. In 1999, Bells et al. reported a family who fulfilled classical LFS criteria and carried a CHEK2 pathogenic mutation, c.1100delC.4 At that time, the authors hypothesized for the first time that heterozygous CHEK2 mutations could be related to LFS phenotype. BRCA2 germline mutations were also described in TP53-negative LFS families.5
    Most cancer predisposition syndromes have an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expressivity. Genetic and environmental modifiers play a role in intra and interfamilial heterogeneity.8 Environmental modifiers were not mentioned by De Silva and Winship, and should have been described in the c...

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  • Is this a Takotsubo Cardiomyopathy or a re-canalising spontaneous coronary artery dissection in this COVID positive pregnant lady?

    To the Editor,

    I have read the recent publication in the Journal by Bhattacharyya PJ, et al. BMJ Case Rep 2020;13:e239104. doi:10.1136/bcr-2020-239104 with interest, however I would propose a different interpretation of their case.

    The authors present a case of the Takotsubo cardiomyopathy (TC) in a 38 weeks pregnant patient with COVID 19 positive presentation.
    They showed that the apical dyskinesis was reversible 2 weeks after her presentation which is one of the features of TC. Nevertheless, the invasive coronary angiography that coincided with the day of the repeat echocardiography (2 weeks after presentation) in my opinion could be in keeping with a revascularized spontaneous coronary artery dissection (SCAD) of the mid LAD, hence the improved flow and recovery of the previously stunned apical left ventricular myocardium. The limited coronary angiographic images show a typical appearance of re-canalising SCAD with the abrupt caliber change of the LAD and the long segments circular and smooth caliber difference indicated by the white arrows on the original image.

    It is known that pregnancy predisposes ladies to SCAD and lately we learnt that the COVID-19 inflammatory milieu enhances endothelial vulnerability.

    This is an interesting case and the cardiologists and general physicians should all be aware of this type of presentation during COVID 19.

  • Reply to Response to the article " Use of the facial artery-based cutaneous island flap (melo-labial flap) for reconstruction of the neopharynx following total laryngectomy: a novel technique": Not a Novel Technique

    We read the response to our case report published in BMJ case reports " Use of the facial artery-based cutaneous island flap (melo-labial flap) for reconstruction of the neopharynx following total laryngectomy: a novel technique"[1]
    We would like to clarify that there is a difference between a new flap and a new technique. A new flap is the one described for the first time in the literature. Contrary to that in a novel technique either a previously described flap or a new flap is used for an indication which has no mention in the literature. Pedicled islanded nasolabial flap have been used in a number of ways and the the cited references by Dr M Alam et al are about its use for floor of mouth reconstruction or for cervical oesophagus for stricture correction. We have also published one such series recently for its versatile use in head neck reconstruction. [2]

    To the best of our knowledge it has not been used for a neopharyngeal reconstruction following total laryngectomy and partial pharyngectomy and hence titled as the Novel Technique of neopharyngeal reconstruction.

    We refute the statement made by Alam et al in there comment " 5. It is submitted that the rightful credit and recognition belongs to the authors who described the islanded skin flap based on facial vessels in the 1980s. It is not a novel flap christened as DK Gupta flap." and reiterate again that " Use of the facial artery-based cutaneous island flap (mel...

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  • comment

    I would like to thank the authors of the interesting case here presented. In some instances, BCC can be devastating. I have seen a case resulting in extenteration of the right eye because of invasion of extra-ocular muscles.

    This provides everyone with an opportunity to revise the British Association of Dermatologist (BAD) guidelines for the management of BCC. Lesions of the central face, including the ears, eyes lips and nose, are at a higher risk of recurrence and should be considered higher risk. GPs should have a low threshold for referral or vigilant follow up. As a plastic surgical trainee, I commonly excise these lesions and offer a 6 months review regardless of histological clearance, particularly if the lesion of recurrent.

  • Response to the article " Use of the facial artery-based cutaneous island flap (melo-labial flap) for reconstruction of the neopharynx following total laryngectomy: a novel technique": Not a Novel Technique

    1. We read with interest the article “Use of the facial artery-based cutaneous island flap (melo-labial flap) for reconstruction of the neopharynx following total laryngectomy: a novel technique in your journal [1]. The authors, Gupta et al, have described the use of islanded melolabial flap for reconstruction of neopharynx after total laryngectomy. In the article, the islanded melolabial flap is presented as a novel, christened as DK Gupta flap, that compares favorably to other loco-regional and free flaps for similar reconstructions.
    2. The authors need to be commended for a well written article with clear descriptive photographs and the good clinical results obtained. However, an islanded one-stage arterialized nasolabial flap was described in 1981 by Rose [2] for the repair of the floor of mouth defect. The elliptical skin flap over the nasolabial crease was elevated between the skin and the level of buccinator, completely islanded and isolated on skeletonised facial artery and vein, exactly in the same manner as described by Gupta et al [1] in their article. The same flap, the islanded facial artery flap, with the same description of elevation was again described by Piggot in 1987 [3] in which the flap was introduced deep to the mandible for the repair of floor of the mouth defect. Even full thickness through and through islanded arterialized flap based on facial vessels that incorporates the buccal mucosa was described by Sasaki et al in 1980s for reconstructi...

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  • Simultaneous bilateral RSA

    Dear Editor, dear Authors:

    We read the case report of Wendling et al [1] with interest. We thank the Authors for sharing their experience, and we would like to congratulate with them. Even if with low-energy trauma in elderly patients, these cases are of interest because of the frequently multiple injuries and medical comorbidities that make the case difficult to treat, for the orthopedic surgeons as well as for our colleagues the anesthesiologists. We had a similar experience with a bilateral four-part fracture of the proximal humerus in a female in her late 70s, and we were able to carry out a simultaneous bilateral reverse shoulder arthroplasty (RSA) thanks to stability of vital parameters during the first procedure. Our patient was barely younger than yours, had no major medical comorbidities, and had no concomitant hip fracture: that’s the reason why we could managed a simultaneous bilateral RSA, and we published it as the first case described, to our knowledge, in Literature [2], a few weeks before you did.

    Pathology was quite similar: bilateral four-part fracture over gleno-humeral eccentric osteoarthritis in our case and left four-part posterior fracture-dislocation and right three-part posterior fracture-dislocation associated to a glenoid fracture in your case. As for indication to RSA, the correct treatment of proximal humeral fractures is still not clear, with recent meta-analysis [3] confirming prior reviews [4] about no super...

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  • Papillary Cystadenocarcinoma is a Unique Salivary Gland Tumor

    The authors state in the discussion that papillary cystadenocarcinoma (PAC) is not a rare tumor in the thyroid, ovary, or prostate. However, PAC is a unique cystic salivary gland tumor, and is not typically described in these locations1. There are few reports of PAC in the prostate, and they are possibly related to prostatic cystadenoma; however, it is not described as a salivary gland tumor in this location2. While papillary thyroid carcinomas can be cystic, the term PAC is not typically used in this location. A reference to a paper is included in the discussion afterwards, and is incorrectly cited as "papillary cystadenocarcinoma of the thyroid", when the actual article title is "papillary adenocarcinoma of the thyroid"3. Cystadenocarcinoma is a pattern described in ovarian tumors, on the other hand it is not currently mentioned in WHO classification of tumors of female reproductive organs4. Although PAC of the salivary gland is currently lumped under the heading of adenocarcinoma, NOS, survival is unique for these cystic tumors. They show rare recurrences with satisfactory surgical resection1. It should be important to acknowledge that PAC is a unique salivary gland tumor, and is distinct from cystic adenocarcinomas occurring in other organ sites.

    1. El-Naggar AK, Chan JK, Grandis JR, Takata T, Slootweg PJ. WHO classification of head and neck tumours. International Agency for Research on Cancer; 2017.
    2. Lee T...

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  • Further research to achieve generalisability

    Although interesting, is a case study of three patients genuinely myth busting? Has further research been conducted in this area? My searches have only revealed aligned treatments which reduce the need for medication largely owing to weight loss (e.g. bariatric bands, ketogenic diet) but no generalisable data for fasting. I am concerned that fasting, like other rigorous dietary restrictions, is rarely sustainable and that as soon as the regime ends patients will quickly return to their previous clinical status. Furthermore, what do we know about the long-term side-effects of severely restricted dietary treatments, especially in comparison to long term medication? Signposting to other T2D fasting studies would be appreciated.