Squamous Cell Carcinoma of the Foot Occurring in a Wart

Verrucous carcinoma is a rare form squamous cell carcinoma which appears similar to a wart. When it occurs in the feet, it can be easily misdiagnosed. It rarely metastasizes or recurs posttreatment. We report a case of a septuagenarian with recurrence of verrucous carcinoma diagnosed within 6 months at the site of previous treatment. Unique features in our patient’s clinical presentation include his advanced age, being nondiabetic, and the rapid recurrence of carcinoma. Level of Evidence: Level IV: Case report

Bartsocas-Papas Syndrome: Case Report

Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing here a case of severe form of BPS, which we encountered in our hospital in Dubai, UAE, which was diagnosed by antenatal scan; the baby had typical features of BPS and died immediately within few hours of life. Parents were first-degree consanguineous couples, and there was a family history of this disorder.

Congenital Tarsal Kink Syndrome: Literature Review and Case Report

Background: The congenital tarsal kink syndrome is a rare form of congenital upper eyelid entropion associated with cardiovascular, musculoskeletal or central nervous system disorders. This syndrome must be recognized and surgically treated as a perinatal emergency to avoid associated complications—corneal ulcer, corneal leucoma, secondary amblyopia and decreased vision among children. Methods: A literature review was conducted to clarify the diagnosis particularities and the corrective surgery options of the congenital entropion on the upper eyelid. Results: Four relevant studies were found by researching the Web of Science and PubMed databases up to November 2021 for “congenital tarsal kink syndrome” and “congenital upper eyelid entropion”. Conclusions: In this paper, we present a case of congenital unilateral entropion of the upper left eyelid in the context of a tarsal kink syndrome in a one-month old infant, manifested by the absence of eyelashes on the upper eyelid of the left eye, hyperlacrimation and conjunctival hyperemia. Essential in managing the upper eyelid entropion is protecting the cornea. Furthermore, correcting a tarsal kink is eminently surgical, choosing between open or closed procedures. Herein, we address the difficulty in the timely diagnosis of this uncommon condition and make formal recommendations based on all reported cases.

Rare yet catastrophic presentation of undiagnosed antiphospholipid syndrome

A previously well 31-year-old woman initially presented to the emergency department with pneumonia, however, was found to be hypertensive and have new-onset cardiomegaly. She was admitted for intravenous antibiotics and concurrently a series of investigations were conducted to investigate hypertension and cardiomegaly. During the course of admission, she developed acute kidney injury and was found to have acute chronic occlusion in the abdominal aorta. She was diagnosed with catastrophic antiphospholipid syndrome. This is a rare form of antiphospholipid syndrome with a high mortality rate. Thus, it is important that clinicians are aware of this syndrome to facilitate early diagnosis and initiation of treatment.

Herpes Vegetans, an atypical herpes lesion in HIV patient: a case report

Herpes vegetans is a rare form of Herpes simplex virus (HSV) infection in immunocompromised patients that clinically presents as a verrucous and hypertrophic lesion. In this case, we present a 36- year-old man with exophytic verrucous masses in the genital area that was initially suspected as a malignancy. Difficulty to properly diagnose the patient resulted in a few failed attempts at treating the lesion. After excluding other differential diagnoses, the atypical lesion proved to be caused by vegetative herpes infection due to a good response to HSV therapy. Reevaluation of biopsy also showed signs of HSV etiology. Atypical presentation of herpes simplex in immunocompromised patients still proves to be a challenge to diagnose and treat. Proper clinical identification and workup are needed to diagnose and to choose proper regiments

Fatal catastrophic antiphospholipid syndrome at presentation of juvenile lupus

Catastrophic antiphospholipid syndrome (CAPS) is a severe and rare form of antiphospholipid syndrome, extremely uncommon inthe pediatric age group, characterized by multiple site thrombosis involving small, medium, and large blood vessels occurring over a short period of time (usually 1 week) causing multiorgan failure. We report the case of an 8-year-old girl presenting with fever, lymphadenopathy, and pain abdomen with refractory mitral regurgitation diagnosed as systemic lupus erythematosus with CAPS. All three antiphospholipid antibodies positivity in high titers further confirmed the diagnosis. In spite of the early initiation of adequate triple therapy (anticoagulation, steroids, and cyclophosphamide), our patient succumbed. The report aims to incorporate a greater awareness among clinicians for timely diagnosis and treatment of this condition and throws light on the varying ways in which lupus can present in children.

New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case)

Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscular dystrophy have been described. The clinical case of a rare form of congenital muscular dystrophia associated with a homozygous mutation in the TRIP4 gene in a patient with respiratory failure requiring respiratory support, neurological symptoms, muscular hypotonia, and multiple congenital malformations of skeletal system is presented for the first time in Russia. The undescribed pathogenic homozygous variant of the nucleotide sequence in the TRIP4 gene (chr15:64686179, c.136C>T, p.Arg46Ter, 2 exon, NM_016213.4) was detected by whole exome sequencing. The mutation in the TRIP4 gene was validated by Sanger sequencing in a child and its origin was investigated. The mother and father of the girl are carriers of the heterozygous variant in the TRIP4 gene. Identification of the genetic cause of a rare form of neuromuscular disease is important for determining the tactics of patient management and medical and genetic counseling of the family, as well as clarifying the pathogenesis of a rare pathology.

Bouveret-szindróma

Összefoglaló. A Bouveret-szindróma egy bilioenteralis fistulán keresztül a vékonybélbe – az esetek 85%-ában a duodenumba – jutó nagy epekő okozta bélelzáródást jelenti. Leggyakrabban idős nők körében fordul elő. Jelen közleményünk célja e kórkép tüneteinek, diagnosztikájának és terápiás lehetőségeinek ismertetése egy esetbemutatás kapcsán. A 79 éves nőbeteg felvételi hasi panaszainak hátterében típusos gyomorkimenet-obstrukciós szindrómát okozó, a duodenumban beékelődött epekő, Bouveret-szindróma igazolódott. A diagnózist az elvégzett natív hasi röntgen és hasi ultrahangvizsgálatok már felvetették, de megerősítésére további képalkotó vizsgálatot (hasi CT) és endoszkópos beavatkozást végeztünk. Ezt követően sebészeti beavatkozás történt, melynek során a cholecystoduodenalis fistula zárása és az epekő eltávolítása után a beteg gyógyultan távozott. Közleményünkben a diagnózisfelállítás idejének fontosságáról, illetve a terápiás lehetőségekről számolunk be, valamint szeretnénk felhívni a figyelmet az epekő okozta gyomorürülési zavar ezen ritka formájára. Orv Hetil. 2021; 162(49): 1982–1986. Summary. Bouveret syndrome is a rare form of bowel obstruction resulting to the small intestine – in 85% of the cases to the duodenum – caused by a gallstone from a bilioenteral fistula. It occurs most commonly in elderly women. The aim of the present study is to describe the symptoms, diagnostic and therapeutic options of Bouveret syndrome due to our case report. The background of epigastric pain of the 79-year-old woman was the typical gastric outlet obstruction syndrome caused by Bouveret syndrome with an impacted gallstone into the duodenum. This diagnosis was suggested by abdominal X-ray and abdominal ultrasound; however, it was confirmed with abdominal computer tomography and upper gastrointestinal endoscopy. This was followed by surgical intervention to close the cholecystoduodenal fistula and remove the gallstone, finally the cured patient was discharged. In our study, we summarize the importance of timely diagnosis and therapeutic options, respectively, furthermore, draw attention to this rare form of gallstone-caused gastric outlet obstruction syndrome. Orv Hetil. 2021; 162(49): 1982–1986.