Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report.

BACKGROUND: Riga-Fede disease is a rare begnin disorder of the oral tissues, it can be associated with congenital anomalies and neurological disturbances. Lesch-Nyhan syndrome is a rare X-linked recessive disorder characterized by neurological and behavioral manifestations. A patient can rarely be diagnosed with both diseases in a lifetime. Therefore, reporting manifestations from such disorders is important to avoid misdiagnosis and help in timely intervention. CASE PRESENTATION: This case report presents an 8-months-old male infant with traumatic oral ulcers from deciduous teeth. A diagnosis of Riga-Fede disease was made. Teeth grinding was performed and the oral lesions were healed. At the age of 2.5 years, the patient presented with neurological manifestations as well as facial tissue and premature teeth loss from self mutilation. Genetic sequencing revealed a variant of uncertain significance in the Hypoxanthine Phosphoribosyltransferase 1 gene. He was diagnosed with Lesch-Nyhan syndrome. Cleft palate, ventricular septal defect, congenitally undescended testis and ectopic left iliac kidney were also reported. The patient was scheduled on psychiatric treatment and after about six months of follow-up, both the behavioral and neurological symptoms were improved. CONCLUSIONS: Riga-Fede disease can be an early manifestation of Lesch-Nyhan syndrome. To the best of our knowledge, this is the first reported case with the incidence of all the mentioned entities in one pediatric patient.

Secretan's syndrome: case report.

Secretan's syndrome is a rare clinical condition with recurrent swelling of the forearm and dorsum of the hand, together with flexion contracture of the fingers and a thumb that is spared. The disease is associated with automutilation. We present a typical case of a 42-year old women with Secretan's syndrome.

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations. This case report is the first to describe the oral manifestations, and their treatment, of the recently discovered hereditary sensory and autonomic neuropathy type VIII in the medical and dental literature. CASE PRESENTATION: We report on the oral manifestations and dental management of an 8-month-old white boy with hereditary sensory and autonomic neuropathy-VIII over a period of 16 years. Our patient was homozygous for a mutation of PR domain-containing protein 12 gene and was characterized by insensitivity to pain and thermal stimuli, self-mutilation behavior, reduced sweat and tear production, absence of corneal reflexes, and multiple skin and bone infections. Oral manifestations included premature loss of teeth, associated with dental traumata and self-mutilation, severe soft tissue injuries, dental caries and submucosal abscesses, hypomineralization of primary teeth, and mandibular osteomyelitis. CONCLUSIONS: The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. There are many knowledge gaps concerning the management of patients with hereditary sensory and autonomic neuropathy-VIII, therefore more research on an international basis is needed.

Suicide attempts and self-injurious behaviours in adolescent and adult patients with borderline personality disorder.

OBJECTIVE: Prevalence data on self-mutilation and suicide attempts for adolescent borderline personality disorder (BPD) are currently not available. The purpose of this paper was to determine the frequency and methods of two forms of physically self-destructive acts (i.e. self-mutilation and suicide attempts) reported by adolescent borderline inpatients in one of the largest samples to date and to compare these results with a similarly diagnosed and assessed group of adult borderline inpatients. METHODS: A total of 104 adolescent inpatients with BPD and 290 adult inpatients with BPD were interviewed about their lifetime history of physically self-destructive acts. RESULTS: The overall rates of self-mutilation (about 90%) and suicide attempts (about 75%) were similar during index admission for both adolescent and adult borderline patients. However, adolescents reported significantly higher rates of extreme levels of lifetime self-mutilation (e.g. >25 and >50 episodes) and cutting in particular, as compared with adult BPD. In contrast, borderline adults were significantly more likely to report a history of numerous (five or more) suicide attempts than adolescents with BPD. CONCLUSIONS: Self-mutilation and suicide attempts among adolescent borderline patients are prevalent and serious. Taken together, these results suggest that extreme levels of self-mutilation distinguish adolescent BPD from adults with BPD. Copyright © 2017 John Wiley & Sons, Ltd.

Foreign bodies in the sigmoid colon of a psychiatric patient following self-mutilation: a case report.

BACKGROUND: The act of deliberate injury to one's own body without the help of others is a well-known phenomenon in psychiatric patients. Insertion of foreign bodies into one or more orifices is not uncommon but insertion into a body cavity or the gastrointestinal tract by self-inflicted injury is quite rare. CASE PRESENTATION: A 32-year-old Ethiopian psychiatric patient presented with left lower abdominal pain of three months' duration following the insertion of foreign bodies via a self-inflicted wound in the left lower quadrant of his abdomen. Radiological evaluation demonstrated the presence of foreign bodies. A laparotomy revealed two metallic and three wooden materials in his sigmoid colon and a hole in his sigmoid that was tightly sealed with omentum. The foreign bodies were successfully removed, the hole was closed primarily, and our patient was discharged uneventfully. CONCLUSIONS: This case illustrates that a foreign body can be inserted into the colon through a self-inflicted wound in psychiatric patients, and patients may present months later without having developed generalized peritonitis.

Treatment of hesitation marks on the forearm by the pinhole method.

Scars from self-inflicted wounds, referred to as "hesitation marks," are usually linear, flat, poorly oriented, white in color, and often located on the forearm. Many patients do not undergo treatment for these due to limited available modalities. The aim of this study was to evaluate the efficacy and safety of the pinhole method using a 10,600 nm carbon dioxide (CO2) laser for treating hesitation marks on the forearm. We conducted a retrospective chart review of patients with hesitation marks treated by the pinhole method from March 2010 to April 2014. Eleven patients with hesitation marks (mean age 37.8 years; range, 23-67 years) were treated with the pinhole method over the 4-year study period. Subjects were treated via the pinhole method in one to six treatment sessions at 4- to 8-week intervals. Two blinded observers evaluated photographs taken at baseline and 3 months after the final treatment and assessed improvement using a quartile grading scale. Compared with baseline, there was mild to moderate improvement in all patients (mean score 3.0). The patient satisfaction survey revealed a mean improvement score of 2.82. The pinhole method using a CO2 laser may be an effective treatment option in patients with hesitation marks on the forearm.

Bilateral acute endophthalmitis associated with munchausen syndrome.

PURPOSE: Endophthalmitis is a potentially blinding intraocular infection that requires urgent intervention. Self-inflicted endophthalmitis is rare, difficult to diagnose, and requires a multidisciplinary approach for management. The purpose is to present a rare case of sequential self-inflicted acute endophthalmitis as a feature of Munchausen syndrome. METHODS: This is a case report reviewing imaging and laboratory studies. RESULTS: A 42-year-old female patient developed culture-proven acute endophthalmitis sequentially in both eyes with different bacterial strains. There was clear evidence of self-inflicted corneal puncture tracks in the right eye, and during the course of inpatient psychiatric evaluation, the patient admitted to self-inflicted ocular perforations. CONCLUSION: Patients with Munchausen syndrome often injure themselves as a method of drawing attention, sympathy, or reassurance. Although ocular injuries due to psychiatric disease are known to occur, intraocular injection as a mode of self-injury is extremely rare. A high index of suspicion must be maintained when the reported history and clinical course are inconsistent.

Repeated self-mutilation of testicles in the context of methamphetamine use - A case report and brief review of literature.

We report a case of recurrent genital self-mutilation (GSM) after use of methamphetamine. A 29-year-old male with borderline personality and polydrug misuse attempted the GSM twice. Firstly, he self-amputated his left testicle, and one year later he injected printer ink in his right testicle. An open revision of the injured area revealed a puncture wound in the right testicle, with a palpable accumulation of fluid. No ink was found inside the scrotal sac suggesting that the substance was injected directly to the testis. Due to the absence of left testicle, the urologist decided against orchiectomy. Blue colour of serum, urine and sperm was observed for nine days, and then spontaneously disappeared. An ultrasound imaging showed enlargement of the right testis with hypoechogenic fluid/ink collection. Pathomorphological examination of the testicular tissue revealed focal necrosis and diffuse suppurative inflammation of the testicular tunic. Examination of the sperm showed significantly reduced amount of sperm, with majority of dead spermatocytes. Follow-up examination at six months and two years showed absence of spermatocytes. Some attempts of GSM can be repeated. Therefore, specific preventive measures should be undertaken whenever a standard advice and motivational interviewing proved ineffective. Depending on local and general toxicity of an injected xenobiotic, orchiectomy should be considered as a treatment option of GSM. Injection of potentially low toxic ink into the testicle can lead to its permanent damage and infertility.

Self-inflicted chronic bacterial keratoconjunctivitis using self semen.

This case report describes a case of self-inflicted chronic bacterial keratoconjunctivitis involving the patient's own semen. A 20-year-old male soldier was referred to our clinic for the evaluation of refractory chronic bacterial conjunctivitis. Over the previous 4 months, he had been treated for copious mucous discharge, conjunctival injection, and superficial punctate keratitis in both eyes at an army hospital and a local eye clinic. Despite the use of topical and systemic antibiotics according to the results of conjunctival swab culture, there was no improvement. During the repeated smear and culture of conjunctival swabs, surprisingly, a few sperm were detected on Gram staining, revealing that the condition was self-inflicted bacterial keratoconjunctivitis involving the patient's own semen. Thus, in cases of chronic keratoconjunctivitis that do not respond to appropriate antibiotic treatment, self-inflicted disease or malingering should be considered.

An unusual case of self-inflicted multiple needles injuries to eye.

Self-inflicted eye injuries among psychiatric patients are rare but important group of ophthalmic conditions that require close cooperation between different medical specialties to ensure optimum care of the severely disturbed patient. They have been associated with a variety of disorders, including paranoid schizophrenia, drug-induced psychosis, obsessive-compulsive disorder, depression, mental retardation, and ritualistic behavior. It has been described in both adults and children, but occurs most commonly in young adults with acute or chronic psychoses.

[Treatment of patients with suicidal and autoagressive neck, thorax and abdomen injuries].

The issue is devoted to the analysis of case reports of 305 patients with suicidal and autoagressive neck, thorax and abdomen injuries. The objective prevalence of penetrating injuries of the abdomen among men with depressive disorders was registered. The most complicated, both for surgeon and psychiatrist, were cases of combined neck, thorax and abdomen injuries in elderly patients.

[Transvaginal penetrating fetal head injury]. / Traumatismo encefalocraneano fetal por vía penetrante transvaginal.

In utero head traumas are extremely rare and are usually caused by penetrating injuries in the thoracic or abdominal wall that affect the uterine cavity. Transvaginal fetal head injuries have been reported in exceptional cases. This is a case-report of a fetus affected by penetrating head trauma with skull fracture and intra-ventricular hemorrhage after his mother's self-insertion of a blunt object, violently through the vagina. Trauma disrupted the integrity of intrauterine membranes and precipitated preterm labor. After birth, there was a debridement of the scalp and surgical management of the fracture was performed; nevertheless, the patient died four weeks later, due to neonatal sepsis. Management of these wounds must not only be focused on repairing the primary wound, but on preventing the infectious complications.