Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

Inherited epidermolysis bullosa defines a heterogeneous group of genodermatoses characterized by skin and/or mucosa fragility resulting in blistering. The junctional variant (JEB) is associated with mutations affecting the genes expressing the components of the dermo-epidermal junction (DEJ) [1-2]. We report 34 JEB patients with COL17A1 genetic mutations diagnosed in our Center between 1993 and 2019. Medical and biological records were collected with a standardized questionnaire.

Scabies polymerase chain reaction with standardized dry swab sampling: an easy tool for cluster diagnosis of human scabies.

BACKGROUND: Expert visualization of Sarcoptes scabiei remains essential for diagnosing human scabies, but access to said experts can be difficult. Polymerase chain reaction (PCR) is a specific tool for the detection and confirmation of S. scabiei but has poor sensitivity. OBJECTIVES: To evaluate PCR as a diagnostic method for scabies using nonexpert-dependent standardized sampling. METHODS: The dry swab was systematically rubbed across the front of both wrists, the eight interdigital spaces and on any suspected scabies lesions in all patients referred for scabies. A new PCR-based diagnostic test was run on the samples. All patients underwent clinical and dermoscopic examination. Scabies diagnosis was confirmed when dermoscopic examination was positive or the patient had typical clinical signs of scabies. RESULTS: Of 183 suspected cases of scabies, 164 patients were sampled, 87 had confirmed scabies (dermoscopy positive n = 87, typical clinical signs n = 1) and 77 did not. Of the 87 patients with proved scabies, 33 patients had positive scabies PCR, resulting in a 37·9% [95% confidence interval (CI) 28·4-48·4%] sensitivity and a 61·7% (95% CI 52·4-72·7%) negative predictive value. None of the 77 patients ruled out for scabies had a positive PCR result. CONCLUSIONS: This method is nontraumatic, repeatable and non-expert-dependent. It shows sensitivity similar to previous studies involving expert skin scraping. However, this method facilitates the multiplication of sampling, which increased the sensitivity for cluster scabies diagnosis. This method may be suitable as a first-line diagnosis tool where a large cluster scabies outbreak is suspected. What's already known about this topic? Scabies diagnosis requires expertise. Scabies polymerase chain reaction (PCR) is specific but has poor sensitivity. Poor sensitivity is the consequence of the low efficiency of sampling methods. What does this study add? This PCR-based diagnostic method based on nontraumatic standardized skin sampling is not expert-dependent and is reproducible. This diagnostic method may be relevant as a non-expert sentinel diagnosis tool in large clusters where a scabies outbreak is suspected.

Evaluation of bladder stimulation as a non-invasive technique for urine collection to diagnose urinary tract infection in infants under 6 months: a randomized multicenter study ("EE-Sti.Ve.N").

BACKGROUND: Febrile urinary tract infection (UTI) is common in infants and needs to be diagnosed quickly. However, the symptoms are non-specific, and diagnosis can only be confirmed after high quality urinalysis. The American Academy of Pediatrics recommends suprapubic aspiration (1-9% contamination) and urinary catheterization (8-14% contamination) for urine collection but both these procedures are invasive. Recent studies have shown a new non-invasive method of collecting urine, bladder stimulation, to be quick and safe. However, few data about bacterial contamination rates have been published for this technique. We hypothesize that the contamination rate of urine collection by bladder stimulation to diagnose febrile UTI in infants under 6 months is equivalent to that of urinary catheterization. METHODS/DESIGN: This trial aims to assess equivalence in terms of bacterial contamination of urinary samples collected by urinary catheterization and bladder stimulation to diagnose UTI. Seven hundred seventy infants under 6 months presenting with unexplained fever in one of four Pediatric Emergency Departments in France will be enrolled. Each child will be randomized into a bladder stimulation or urinary catheterization group. The primary endpoints will be the validity of the urine sample assessed by the presence of contamination on bacterial culture. CONCLUSION: A high recruitment rate is achievable due to the high prevalence of suspected UTIs in infants. The medical risk is the same as that for routine clinical care as we analyze patients with isolated fever. If our hypothesis holds true and the rate of urine contamination collected by bladder stimulation is acceptable, the infants included in the study will have benefited from a non-invasive and reliable means of collecting urine. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03801213. Registered on 11 January 2019.

[Early type 2 neurofibromatosis and congenital retinal hamartoma]. / Neurofibromatose de type 2 précoce et hamartome rétinien congénital.

Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. It has long been regarded as an adolescent- and adult-onset disease. We report here on a case of a 6-year-old girl with infantile-onset clinical signs. The girl, who had a history of amblyopia and congenital retinal hamartoma, presented with rough dimness of visual acuity. Cerebral magnetic resonance imaging found a left voluminous fronto-temporal tumor including the chiasma and optical nerves. Vestibular and cervical nerve schwannomas were also found. She underwent a first neurosurgical partial excision and histopathology revealed meningioma. Postoperative radiotherapy was necessary due to a secondary increase of the tumor size. Subsequent molecular testing revealed a NF2 gene abnormality. NF2 can become evident in infancy but clinical early symptomatology is often different: ocular symptoms and neurological problems are common. There is no consensus on the treatment of tumors involving the central and peripheral nervous system, abstention being usual. In case of severe signs, surgery and radiotherapy can be proposed. The diagnosis of a hamartoma must lead to multidisciplinary follow-up.

[Progressive pigmented purpuric dermatosis in young children]. / Capillarite purpurique chronique diffuse du petit enfant.

BACKGROUND: Pigmented purpuric dermatosis (or Schamberg's disease) is characterized by chronic macular purpura and capillaritis. It is more common in young adult males and adolescents and is generally localized on the lower limbs. In this article, we report on five young children with generalized Schamberg's disease. PATIENTS AND METHODS: Five children (aged 13 months to 5 years) were included in this retrospective study. Time to consultation delay ranged from 15 days to 1 year. RESULTS: All patients presented asymptomatic generalized macular purpura. Skin biopsies were performed in 4 cases and were characteristic. The results of coagulation tests and complete blood counts were within the normal range in all patients. The clinical course was chronic, with periods of improvement and worsening. No treatment was prescribed. DISCUSSION: Schamberg's disease is uncommon in childhood. Our observations suggest that this diagnosis is not exceptional. Clinical appearance, setting and normal blood count values are sufficient to enable a diagnosis to be made. The clinical course is generally chronic, and as yet no treatments have demonstrated efficacy.

The effects of the final stages of the Late Ordovician glaciation on marine palynomorphs (chitinozoans, acritarchs, leiospheres) in well Nl-2 (NE Algerian Sahara).

Palynomorph assemblages, especially chitinozoans and acritarchs, from the Upper Ordovician of well Nl-2 (north-east of the Algerian Sahara) are studied in order to precisely date the ultimate effects of the Late Ordovician glaciation and to document the impact of this major climatic stress on the diversity of the palynoplankton. References are made to stable isotope excursions and to global eustatic sea level variations in order to improve the local age determination. The Hassi el Hadjar Formation, i.e. glacio-marine diamictites, is interpreted as a transgressive event resulting from the melting of the northern Gondwana ice cap. It yields poorly preserved and moderately diverse chitinozoans of late Hirnantian age. Acritarchs are more abundant in the lower part of these "microconglomeratic clays", but display a low diversity and are badly preserved throughout the whole formation. Reworked individuals are recorded in both groups. The marine sediments of the M'Kratta Formation of latest Hirnantian age contain better preserved, more abundant and more diverse palynomorph assemblages, especially in the Upper Member. The composition of this palynoplankton indicates a fairly good faunal and phytoplankton recovery after the early Hirnantian climatic stress.The extinction of the Ordovician forms, and the appearance of Silurian type taxa occur only in the uppermost Hirnantian, i.e. following with a slight delay the glacial event. The overlying black shales of Wenlock age (lower part of the Oued Mehaiguène Formation) are indicative of marine anoxic environments. They yield a virtually exclusive, but enormous number of Tasmanacea. The very peculiar composition of this palynoplankton seems to be independent of the Late Ordovician glaciation and is most likely related to the factors that, later, generated and maintained anoxic conditions in this area.A new species of chitinozoan, Spinachitina oulebsiri sp. nov. from the latest Hirnantian M'Kratta Formation, is described and illustrated.