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.

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.

[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.

[Congenital corneal anesthesia. A case report]. / Anesthesie corneenne congenitale: a propos d'un cas.

Congenital corneal anesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 4-year-old girl who presented with bilateral congenital corneal anesthesia revealed by a corneal ulcer which had been unresponsive to adapted local treatment. Self-inflicted corneal injuries were present. It is important to search for corneal anesthesia in children with chronic ulceration of the cornea and selfinflicted injuries.

[Congenital insensitivity to pain: difficulty of management]. / L'insensibilité congénitale à la douleur : difficultés de prise en charge.

INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare disorder, most often of genetic origin. CASE REPORT: The authors present the case of two siblings, 10 and 13 years old, both followed-up since the age of 2 for CIPA diagnosed after discovering insensitivity to pain during iterative falls, burns, and of severe oro-digital self-mutilating behavior. Sural nerve biopsy and an electromyogram confirmed the diagnosis. DISCUSSION: CIPA with anhidrosis is a very rare disease. It is characterized by unexplained fever episodes, anhidrosis, pain insensitivity, self-mutilating behavior, and sometimes mental retardation. Complications of this insensitivity (non-treated fractures, burns, and oro-digital mutilation) may be lethal. Treatment remains preventive. The patient must observe a very strict hygiene. Prevention for maxillofacial involvement consists in breaking the cycle of oral self-mutilation.

The non-display of authentic distress: public-private dualism in young people's discursive construction of self-harm.

This article draws from focus groups and interviews investigating how young people talk about self-harm. Some of the research participants had personal experience of self-harm but this was not a prerequisite for their inclusion in the study. Thematic coding was used initially to organise and give an overview of the data, but the data were subsequently analysed using a discourse analytic approach. The article focuses on the young people's constructions of deliberate self-harm such as 'cutting'. Throughout the focus groups and interviews, a dichotomy was set up by the young people between authentic, private self-harm which is rooted in real distress (and warrants a sympathetic response) and public, self-indulgent attempts to seek attention. This dualistic construction is discussed in some detail and located in various socio-cultural contexts. It is argued that the dualism illustrates contemporary ambivalence about mental health and youth.

Suicide-related events among child and adolescent patients during short-term antidepressant therapy.

AIMS: Antidepressants have been of limited use for adolescent subjects with depression because of drug-induced suicide-related events (SRE). Therefore, we investigated actual suicidality and its risk factors during antidepressant therapy among child and adolescent patients in clinical settings. METHODS: The risks of SRE, consisting of suicidal ideation, self-mutilation and suicide attempt, were prospectively monitored among 70 child and adolescent patients (15.4 ± 2.8 years) during the first 3 months of antidepressant therapy. RESULTS: The proportion of SRE decreased from 47.1% to 22.9% after the treatment. Subjects with persistent risks of SRE were significantly characterized by female sex (P < 0.05), psychotic features (P < 0.001), borderline personality disorder (P < 0.01), previous SRE (P < 0.001), and such baseline psychopathology as anhedonia (P < 0.005), irritability (P < 0.005) and hopelessness (P < 0.001). Discriminant analysis showed that baseline severity of SRE, borderline personality disorder and psychotic features were closely associated with SRE during antidepressant therapy. Total scoring using those three pretreatment factors predicted risks of SRE with sufficient sensitivity (81%)/specificity (98%) as well as high positive likelihood ratio (43.9). CONCLUSIONS: These findings suggest that deteriorated risk of SRE in child and adolescent patients receiving antidepressants should not be overestimated while some pretreatment characteristics may be useful to predict the outcome of SRE after antidepressant therapy.

[Injuries of neck, thorax and abdomen due to suicide or aggressive actions].

288 patients were treated for suicide or auto-aggressive injuries of neck, thorax and abdomen, which amounted 12,8% of all patients with injuries of such localization. Able-bodied men with prolonged depressive disorders pre-dominated among them. Neck injuries were observed in 21,5%, thorax injuries - in 25,7%, abdominal injuries - in 33,7% of patients. Combined injuries of neck, thorax and abdomen were the most hard for surgical treatment (19,1%). Types of injuries and severity of clinical course in postoperative period depends on character and intensity of psychic disorders.

How repeated 15-minute assertiveness training sessions reduce wrist cutting in patients with borderline personality disorder.

OBJECTIVE: The aim of this work was to examine a possible treatment for patients with borderline personality disorder who have wrist-cutting syndrome, a condition characterized by repeated, superficial wrist cutting in a non-suicidal fashion. Within the current healthcare system in Japan, the average amount of time a doctor can spend with a psychiatric outpatient is about 8 to 15 minutes. We, therefore, examined whether repeated 15-minute psychotherapy sessions to improve patient assertiveness would be effective for reducing wrist cutting and possibly other forms of self-mutilation. METHODS: We treated 13 patients diagnosed with borderline personality disorder and wrist-cutting syndrome with assertiveness training during 15-minute, biweekly therapy sessions over a course of one to four years. RESULTS AND CONCLUSIONS: At the conclusion of psychotherapeutic treatment, 69% of outpatients showed a statistically significant reduction in wrist-cutting behavior.

Autoenucleation in a 84-year-old dementia patient.

BACKGROUND: Autoenucleation is a severe, rare form of self-mutilation. The majority of cases have been reported in the 15- to 60-year age group, usually in psychiatric patients with a history of depression or schizophrenia, sometimes caused by drug abuse. CASE REPORT: We report a case of left-sided autoenucleation in an 84-year-old dementia patient suffering from reactive depression. Medical reports mentioned a suicide attempt 2 weeks prior to the incident, whereupon the patient was admitted to the locked ward of a psychiatric hospital. During one night of inpatient stay, the patient manually autoenucleated his left eye. Inspection of the enucleated organ revealed a completely intact globe with an attached optic nerve 5.5 cm in length. The orbit was filled with a massive haematoma. A contrast-enhanced computed tomography (CT) scan showed an orbital haematoma, absence of the left globe and optic nerve and a chiasmatic lesion, accompanied by an intracranial bleeding into the subarachnoid space. Primary wound closure was performed without complications. Visual acuity of the right eye could not be tested due to the patient's lack of cooperation. CONCLUSION: To the best of our knowledge, this is the only reported case of an elderly patient with primary dementia who performed autoenucleation. Other aspects, such as patient history, suicide attempt, manual eye extraction and chiasma lesion are similar to cases reported earlier. The identification and evaluation of intracranial bleedings and chiasmatic lesions that can be associated with autoenucleation requires a contrast-enhanced CT, especially if a long optic nerve fragment is attached to the enucleated globe.

Dental mutilations and associated alveolar bone pathology in African skulls of the anthropological skull collection, Charité, Berlin.

BACKGROUND: Dental mutilations (DM) were and are still common among people in Africa. The purpose of this study was to examine DM in 33 skulls from Cameroon, which have been collected around the turn of the 20th century (anthropological collection, Berlin Museum of Medical History). MATERIALS AND METHODS: From the files of the museum, locations and/or tribal origin were recorded. DM classification described by De Almeida was used (1957). RESULTS: DM of the inverted V-shaped type was most common (30.3%). Pulp exposure was seen in 10 cases (30.3%). Periapical ostitis/radicular cysts were seen in nine cases (27.3%). General loss of alveolar bone was seen in all cases with a marked loss of the maxillary anterior labial alveolar bone plate in six cases (18.2%). CONCLUSIONS: DM may result in alveolar bone pathology characterised by inflammatory changes such as periapical ostitis or formation of radicular cysts.

Dissociation, self-cutting, and other self-harm behavior in a general population of Finnish adolescents.

A few studies on adult clinical samples have demonstrated that dissociation predicts self-harm behavior without intent to die. Furthermore, a similar association has been found from selected adolescent populations. However, no studies have been published on the association between dissociation and self-harm behavior in general populations of either adults or adolescents. We investigated whether a high level of dissociation predicts self-cutting or other self-harm behavior in a Finnish general population sample of 4019 adolescents aged between 13 and 18 years. Those with a high level of dissociation measured with the Adolescent Dissociative Experiences Scale had a higher risk of current self-cutting and other self-harm behavior, even when adjusted for several possible confounding factors. Self-cutting adolescents had higher Adolescent Dissociative Experiences Scale scores than those displaying other kinds of self-harm behavior. These results indicate that a high level of dissociation is an independent risk factor for self-harm behavior in adolescents, and may have value both in clinical work and further research.

[Electroconvulsive therapy for multiple major self-mutilations in bipolar psychotic depression]. / Psikotik bipolar depresyonda çoklu agir kendini yaralama davranislari için elektrokonvülzif terapi.

Self-mutilation is form of self-injurious behavior which is either low intensity, high frequency form seen in personality disorder and mental retardation or low frequency, highly destructive form which occurs in the context of psychosis or acute intoxications. We report a 32 yr-old male with bipolar affective disorder presenting with multiple acts of major self-mutilation during an episode of psychotic depression. At presentation he had broken upper central incisors, circular burn scar on right palm, crush injury of left index finger with avulsed nail and cut injury over glans penis. In view of his extreme self-mutilating behavior, he was administered electroconvulsive therapy on second day following which self-mutilating behavior improved after fourth ECT. After 8 ECT sessions, he was started on lithium carbonate with a serum level of 0.82 meq/L and haloperidol 15 mg/day and there was no recurrence of self-mutilating behavior during follow up after four months.

Nasal manifestations of self-destructive behaviour.

Self-destructive behaviour is prevalent in a variety of different psychiatric disorders. Most common manifestations are self-inflicted cuts to the skin, especially the skin of the forearms. Manifestations of self-destructive behaviour involving the nasal area are rather rare. A series of cases is presented in which nasal diseases were initially misinterpreted, but could finally be identified as factitious disorders. Presented symptoms were foreign body insertions, hemodynamically relevant epistaxis and impetiginous inflammations of the paravestibular skin of the nose. Factitious disorders of the nose should be identified as such for the following reasons: avoiding unnecessary operations, adequate symptomatic rhinologic therapy and the initiation of psychiatric consultation.

Tooth and lip mutilation practices and associated tooth loss and oral mucosal lesions in the Makonde People of southeast Tanzania.

OBJECTIVE: To determine the prevalence of tooth and lip mutilation (TLM) and the prevalence of tooth loss and the associated oral mucosal lesions among adults in south east Tanzania. DESIGN: A cross sectional, clinical study and questionnaire administration. SETTING: Rural population in southeast Tanzania. SUBJECTS: Randomly selected 217 adults aged 40 years and older. RESULTS: About 16% of all participants performed tooth mutilation. There were more females (20.6%) than males (11.3%) who performed tooth mutilation but the difference was not statistically significant. There was only about 17% of participants in the age group 40-54 years who performed tooth mutilation while there was 50% and 32% in the age groups 55-64 years and 65-95 years and the difference was statistically significant (P < 0.001). Tooth loss due to mutilation was significantly (P < 0.001) less than tooth loss due to other reasons in the anterior teeth and there was no tooth loss due to mutilation in the posterior teeth. Lip mutilation in form of piercing the upper lip and inserting a wooden stick called "ndonya" was found only in women. No oral mucosal lesions were found in this study group. CONCLUSION: Tooth mutilation does not lead to significant tooth loss and lip mutilation and the use of "ndonya" does not cause oral mucosal lesions in this society. Extraction of anterior teeth due to other reasons was significantly higher than extraction following mutilation while in the posterior teeth there was no tooth loss due to tooth mutilation.