scholarly journals Anonychia Congenita in a Young Boy - A Rare Entity

2020 ◽  
Vol 07 (01) ◽  
pp. 20-22
Author(s):  
Satish Kumar ◽  

Congenital anonychia in isolated form is a rare anomaly in which there is absence of nails of fingers and toes since birth. Other ectodermal and mesodermal defects in the body are absent. Here, we report a case of 16 year old male having rare congenital disorder anonychia in his hands and feet except in little finger of right hand, lateral two digits of right foot and thumbs of both hands with deformed nails. All other systemic examinations were normal. His parents and siblings were normal as were the second degree relatives.

2021 ◽  
Vol 1 ◽  
pp. 66
Author(s):  
Nidhi Kamra ◽  
Ankita Tuknayat

Apert syndrome is a Type 1 acrocephalosyndactyly syndrome presenting predominantly with craniofacial malformations and syndactyly. It can present with a multitude of clinical features involving any system of the body. A literature search of the PubMed electronic database was performed using the keywords “Apert syndrome” and “dermatology” in the title. The relevant references of the included articles were traced and included. A total of 27 articles appeared, the abstracts of which were screened and reviewed by both the authors independently for inclusion. After carefully analyzing all papers case by case, 21 such cases were retrieved. Cases presenting with other clinical features apart from dermatological features were also reviewed but were not included in the table. A total of about 30 patients of Apert syndrome have been described in dermatological literature, acne being the most common dermatological manifestation. Predominant clinical features in all the cases were brachycephaly due to craniosynostosis and syndactyly of hands and feet. Most of the patients had skeletal, dental, gastrointestinal, genitourinary, respiratory, cardiovascular, and dermatological manifestations in varying proportions. Apert syndrome is a rare entity which can present to a dermatologist. It is, therefore, pertinent to be able to diagnose and recognize the various clinical features of this syndrome to ensure timely management of such patients.


2020 ◽  
Vol 7 (4) ◽  
pp. 1307
Author(s):  
Anil Kumar

Symphalangism is rare congenital disorder characterised by ankylosis of interphalangeal joints of hands and feet. The fusion can involve the proximal or the distal joints; however, involvement of the proximal interphalangeal joints is more common. There may other associated skeletol and non-skeletol abnormalities. Here the author reports a 14 year old girl with symphalangism involving the interphalangeal joints of the thumbs of bilateral hand. She did not have any functional impairment and hence no medical or surgical intervention was performed. As involvement of thumbs is very rare condition, author would like to report it. 


2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Shazia Perveen ◽  
Mishraz Shaikh ◽  
Sajid Ali

Abstract Background Scrotoschisis is a rare anomaly in which the testis is lying outside scrotum congenitally. Only few cases have been reported in literature under different names most of which are unilateral. We have found only one case of bilateral scrotoschisis in literature. Case presentation Newborn presented to us after normal term twin delivery as a case of bilateral scrotoschisis in which both testes were lying outside the scrotum congenitally. Baby underwent uneventful bilateral orchiopexy and was discharged home the next day. Conclusion Scrotoschisis is a very rare genital anomaly with only a few cases reported in literature. This report would add to the literature which would help in studying the exact mechanism and embryopathogenesis of this anomaly which is not known yet.


2021 ◽  
Vol 14 (7) ◽  
pp. e244352
Author(s):  
Snehasis Das ◽  
Naveen Kumar Gaur ◽  
Oseen Hajilal Shaikh ◽  
Uday Shamrao Kumbhar

Infestation of any dead or necrotic tissues by the larvae of flies (maggots) is myiasis. This form of habitation is not restricted to any particular tissues in the body and can occur anywhere. However, myiasis at the surgical stoma site is very rare. We present a 55-year-old woman diagnosed with metastatic carcinoma of the oesophagus who underwent feeding gastrostomy (FG). The patient later presented with worms at the FG site. We removed the FG tube, cleared all the maggots, thoroughly cleaned the wound and placed a new FG tube. Although its occurrences have been reported enough in medical history, there are only two documented cases of percutaneous endoscopic gastrostomy stoma site myiasis. Hence, we present the first case in the literature of cutaneous myiasis around an FG stoma site.


2016 ◽  
Vol 15 (2) ◽  
pp. 278-282
Author(s):  
Humberto Ferreira Arquez

Background: The purpose of this paper is to describe an anatomical variation of the hand extensor on the little finger of the right hand which receives four tendons, condition unknown, as it is the first case reported so far in the literature. The human extensor tendons of hand often display an array of variations. Awareness of the anatomy and variations of the extensor tendons on the dorsum of the hand is necessary not only for the anatomist but also for surgeons when considering tendons for hand surgery, tendon rerouting or transplants. Materials and Methods: Bilateral anatomical variation in the upper limb was found during routine dissection in a 75-year-old male cadaver in the Morphology Laboratory at the University of Pamplona. The variations were recorded and photographed. Result: In the left hand the extensor digitorum there was a single tendon to the index, double tendon to the middle, triple tendon to the ring finger, a single tendon to the little finger or digiti minimi. The extensor digiti minimi has double tendon. In the right hand the extensor digitorum there was a single tendon to the index, triple tendon to the middle finger, triple tendons to the ring finger, a double tendon to the little finger. The extensor digiti minimi has double tendon. The little finger receives four tendons, 2 of extensor digitorum and 2 of extensor digiti minimi. The dorsum of the left hand and right showed juncturae tendinum type 2, between the extensors tendons in the 3rd intermetacarpal space; type 3, between the extensors tendons in the 4th inter metacarpal space. Conclusion: The presence of multiple tendons may alter the kinematics around the site of attachment to the phalanx. Knowledge of anatomical variations and normal anatomy of the extensor tendons, may be helpful while performing graft and tendon transfer operations.Bangladesh Journal of Medical Science Vol.15(2) 2016 p.278-282


2020 ◽  
pp. 30-30
Author(s):  
Valeti Rajeswari ◽  
Kolluru V D Karthik ◽  
Srinivasula Sriranga Pravallika

Honey bee sting induced Cerebral infarction is a rare entity . We report a case of 55year old male presented with anaphylactic shock following honey bee sting along with weakness of left side of the body and the face . He was managed with anti histaminics, adrenaline injections, Intravenous fluids , vasopressors , anti platelets and anticoagulants .


Author(s):  
Ganesh Chaudhari ◽  
Satish Sonawane

Background: The hand is one of the most common parts of the body involved in burns, i.e., 80%. Even minor burns in the hand may result in severe limitations of function. Early initiation of physiotherapy, topical antibiotic cream treatment, collagen application, splintage, passive exercise for second-degree superficial burns. Materials and methods: A prospective comparative study was conducted in 10 patients with acute hand burns due to thermal burns (scald, flame). All patients with second-degree superficial to intermediate thickness burns were given Negative pressure wound therapy (indigenous NPWT Kit) to one hand and local antibiotic cream to the other hand or other parts of the body to study clinical profile and outcome. Results: A total of 10 patients were studied. The majority of patients were in 19 to 30 years of age group 6 patients (60%), five females, and one male. Pediatric patients account for 4 patients (40%), two female and two male children. Incidence of burns in females 70% and males’ group 30%. Significant reduction in postburn edema in NPWT hand compared to topical antibiotic cream dressing. Healing is fast in NPWT applied hand/part. Conclusion: Negative Pressure Wound Therapy for Acute second-degree superficial burns showed promising results in wound healing and reduced post-burn edema burn in hand in our study.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Azkia Khan ◽  
Hashim Ejaz ◽  
Vijaykumar Sekar ◽  
Sofia Syed

Abstract Background Acromegaly is a slow-onset rare endocrinopathy that is characterized by chronic overproduction of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Excess GH and IGF-1 levels lead to insulin resistance, which is implicated in most of the complications associated with acromegaly. We present a case of acromegaly, wherein the patient presented with worsening polyarthralgia and decreasing mobility. As the patient was undergoing workup for rapidly progressing osteoarthritis, the internist became suspicious of patient’s changing physical appearance. Case A 53-year-old man with medical history of diabetes mellitus and hypertension was referred to endocrine clinic on account of high IGF-1 levels, 909 ng/ml (normal: 37-245 ng/ml). He was seeking medical attention because of rapidly progressing polyarthralgia and stiffness for the last two years. His symptoms were intensifying despite use of non-steroidal anti-inflammatory drugs and intra-articular steroid injections. Imaging revealed severe degenerative changes and narrowing of joint space in bilateral hip, knee and glenohumeral joints. Internist observed that the patient was exhibiting stigmata of acromegaly such as enlargement of hands and feet, prognathism and dental space widening. Patient reported headaches, blurry vision, sleep apnea, dysphagia and right ear exostosis. Colonoscopy revealed hyperplastic polyps. Repeat IGF- 1 levels were 910 ng/ml (Normal: 37-245 ng/ml). Oral glucose tolerance test showed failure of suppression of GH. Serial GH levels were 4.50, 5.08, 6.74, 5.81 and 5.21 ng/ml (Normal: 0.01- 0.97 ng/ml). Tests for other endocrinopathies revealed the following results: serum prolactin 4 ng/ml (Normal <18 ng/ml), serum cortisol 7.9 ug/dl (Normal: 6-27 ug/dl), 24 hour urine cortisol 23mcg/24 hours (Normal: 3.5-45 mcg/24 hours), serum TSH 2.25 uIU/ml (Normal: 0.34- 3 uIU/ml), serum T4 level 0.7 ng/dl (Normal: 0.6-1.6 ng/dl) and serum T3 level 144.9ng/dl (Normal: 87-178 ng/dl). Serum total and free testosterone levels were 111 ng/dl (Normal: 240-950 ng/dl) and 3.89 ng/dl (Normal: 4.06-15.6 ng/dl) respectively and were suggestive of hypogonadism. MRI Brain showed 12x10x8mm pituitary adenoma. He was referred for transsphenoidal surgery for resection of pituitary adenoma. Conclusion Polyarticular osteoarthritis is an early manifestation of acromegaly. Systemic diseases associated with acromegaly are the primary reason for which most patients seek medical attention. It is important to look for coexisting endocrinopathies whenever the diagnosis of acromegaly is established, since mass effect of pituitary adenoma can wreak havoc on the endocrine system of the body. High index of suspicion, early diagnosis and prompt treatment are the key to reverse some but not all comorbid conditions associated with acromegaly.


Author(s):  
Vikram Venkatsubramaniam Jagannathan ◽  
Rajasekar M. K. ◽  
Shailaja Mathivanan ◽  
Meenaxi Praveen Mehta

<p class="abstract"><strong><span lang="EN-US">Background: </span></strong>Spontaneous bleed from ear, nose, throat is a rare condition called as hematohidrosis, which occurs under condition of extreme physical or emotional stress. This condition manifests as spontaneous painless bleeding through unbroken skin in any part of the body. It is self-limiting in nature. This condition is relatively unaware among otorhinolaryngologists, the diagnosis of which is made by presence of bloody discharge without any obvious cause through intact skin, witnessed and confirmed by a health professional and the presence of blood components on biochemical analysis.</p><p class="abstract"><strong><span lang="EN-US">Methods: </span></strong>Retrospective analysis of series of eight cases.  </p><p class="abstract"><strong><span lang="EN-US">Results: </span></strong>All eight cases had normal haematological parameters and were under emotional stress. Two cases manifested with oral bleed.</p><p class="abstract"><strong><span lang="EN-US">Conclusions: </span></strong>Hematohidrosis is relatively unknown condition to the otorhinolaryngologists and the cases are occurring sporadically which goes unnoticed. This condition occurs in severe stress which may also lead to ear, nose, oral, gastrointestinal bleeds or in combination from any of the sites with a relation of severity of stress level with quantity and site of the bleeding episodes. The condition can be managed effectively if the condition is recognized after ruling out bleeding diathesis. If awareness is created about this clinical condition which is relatively unknown entity, it will lead to further insight on evaluation and management of this rare entity probably an exocrine disorder.</p>


2021 ◽  
Vol 8 (3) ◽  
pp. 208
Author(s):  
Supreet Shirolkar ◽  
Rajib Sikdar ◽  
Khooshbu Gayen ◽  
Anisha Bag ◽  
Santanu Mukhopadhyay ◽  
...  

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