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Biomedical subjects

F Boralevi

Publications and source records attributed to F Boralevi.

At least 19 recordsLinked to original sources
PubMed2007

SACRAL syndrome: spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an angioma of lumbosacral localization.

BACKGROUND: Publications concerning perineal infantile hemangiomas are scarce, and comprise no large series. OBJECTIVE: Studying clinical features of hemangiomas of the perineal area, complications and associated malformations. METHODS: Retrospective analysis of all hemangiomas localized in the perineal area, encountered at the Children's Hospital in Bordeaux from 1994. RESULTS: Of 49 perineal hemangiomas (34 girls, 15 boys), 5 patients had accompanying malformation, mainly lipomyelomeningocele with tethered cord. The superficial hemangiomas were more represented in males and presented sooner than the nodular counterpart. The average rate of ulceration was 73%, ulcerations developed earlier in the superficial forms than their nodular counterparts (2 vs. 4 months). CONCLUSION: Superficial perineal hemangiomas are more often complicated by ulceration, and are associated with developmental anomalies. As a counterpart for the PHACE syndrome in facial hemangioma, we propose the acronym SACRAL for perineal hemangiomas: Spinal dysraphism, Anogenital anomalies, Cutaneous anomalies, Renal and urologic anomalies, associated with Angioma of Lumbosacral localization.

Anal Canal↗
PubMed2006

Multiple neonatal staphylococcal cold abscesses of the large folds.

BACKGROUND: We describe three neonates who presented around the tenth day of life with multiple bilateral fluctuating cold abscesses situated in the lymph node areas, with secondary fistulation but without associated fever or general symptoms. RESULTS: In all cases, Staphylococcus aureus was found in the abscesses and the umbilicus with similar antibiograms. The evolution was good and the children remained in good health afterwards. CONCLUSION: Disseminated neonatal staphylococcal infections with a benign evolution are not commonly described in the medical literature. Clinically, cold inflammatory abscesses of the large folds associated with omphalitis may correspond to either transient bacteriemia well controlled in an immunocompetent host or more likely a local contamination process.

Abscess↗
PubMed2005

[New treatments of atopic dermatitis].

Topical steroids are still used suboptimally, but remain the mainstay of atopic dermatitis treatment. Topical steroid phobia is rampant in many countries, a real advantage for the entry on the market of topical immunomodulators (TIMs), which inhibit both antigen specific and non-specific T cell activation in the skin, by blockade of gene transcription of proinflammatory cytokines such as IL2 and TNF alpha. Topical tacrolimus and pimecrolimus have the most advanced clinical development. Tacrolimus, already used orally in transplantation medicine, is already available in France since 2003 as a 0.03% ointment for children (Protopic, Fujisawa). Its introduction on the market has substantially changed prescription habits in atopic dermatitis. Recalcitrant adolescent and adult head and neck lesions are the major target, but the drug is is also widely used in children, with a good safety profile. The risk of herpes virus superinfections did not increase significantly in clinical trials but needs further monitoring. Long-term prescription will need a closer look at a still much debated increased skin cancer risk. The marked efficacy on thin skin sites and absence of atrophogenic properties of the drug balance its side effects at the first applications on inflamed skin (pruritus, burning sensation). Clinical studies using pimecrolimus (Elidel, Novartis), marketed as a 1% cream, show a satisfactorily efficacy profile in adults and children including infants. The drug is better tolerated and is already widely introduced on the international market since 2002 with a pediatric positioning, but is nor available yet in 2004 in France. Besides phototherapy, systemic immunosuppressants remain useful drugs in severe disease especially in older children and adolescents, cyclosporin remaining the leading drug. Preventive immunomodulation modifying the intestinal microflora is very promising approach which deserves a large-scale assessment.

Child↗
PubMed2005

[Reticular erythema signalling the onset of episodes of hereditary angioedema in a child].

INTRODUCTION: Hereditary angioedema is characterized by episodes of subcutaneous, digestive or laryngeal edema. In some cases, non-pruritic reticular erythema may precede the episodes of edema. OBSERVATION: Every 4 to 6 weeks since infancy, a girl presented non-pruritic widespread reticular erythema, sparing the face. Two or three times every year, abdominal pain or edema of the lower limb joints followed the skin eruption. At 12 years of age, she was hospitalized because of an edema of the face associated with the eruption. Exploration of the complement confirmed the diagnosis of type I hereditary angioedema. DISCUSSION: The mean delay before diagnosis of hereditary angioedema is of 7 years. Reticular erythema in hereditary angioedema is frequent (40p. 100 of cases) and it usually occurs early in childhood, even in the absence of any episode of angioedema. When present, these eruptions usually precede an episode of angioedema. Recognition of this eruption as a symptom of hereditary angioedema would shorten the delay before diagnosis and anticipate appropriate management of the episodes.

Age of Onset↗
PubMed2005

Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.

BACKGROUND: Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo. Since the original report by Witkop, this condition has been considered to be a disorder of desmosome/gap junction formation, but there has been no ex vivo investigation of these components using genetic and immunolabelling techniques. OBJECTIVES: To perform light and immunoelectron microscopic studies, and partial genetic analysis on five patients in a family and three sporadic cases and to point out similarities of this rare disorder with chronic mucocutaneous candidiasis and other follicular keratosis syndromes, i.e. ichthyosis follicularis-alopecia-photophobia (IFAP), keratitis-ichthyosis-deafness (KID) and Siemens syndromes. METHODS: Biopsies from the involved oral mucosa and armpit skin of patient 1 were prepared for standard histopathology, electron microscopy and immunocytochemistry. Microsatellite genotyping was performed in three affected family members. Direct sequencing after polymerase chain reaction amplification of the entire coding region was performed. RESULTS: A 14-year-old male had recurrent keratitis, widespread keratosis pilaris, perineal intertrigo, hypotrichosis and oral mucosal involvement. A similar phenotype was noted in four members of his family and in three sporadic cases. Histological examination of oral mucosa and skin samples showed a psoriasiform pattern, dyskeratotic features and cytoplasmic vacuoles. Expression of connexins (Cx), desmosomal, adherens junction and cytoskeleton proteins (Cx 26, 32 and 43, desmogleins 1 and 2, plakoglobin, desmoplakins I-II, plakophilin 1, beta-catenin, E-cadherin, keratins, beta-tubulin, vimentin and actin) was normal. Ultrastructural studies showed a reduced number of desmosomes. Dyskeratotic cells exhibited internalized gap junctions, long filamentous inclusions reactive with antikeratin antibodies, and bundles of perinuclear fibres resembling clear tonofilaments. Genetic analysis in the studied family excluded the desmosomal cadherins in chromosome 18q12 as candidate genes. CONCLUSIONS: A diagnosis of hereditary mucoepithelial dysplasia should be strongly suggested by the triad of non-scarring alopecia, well-demarcated erythema of oral mucosa and psoriasiform perineal rash, after exclusion of the clinically related follicular keratosis syndromes. Defective expression of cytoskeleton elements and/or a modification of mechanisms regulating junction-cytoskeleton assembly may be primarily responsible for impaired epithelial cohesion.

Adolescent↗
PubMed2005

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.

BACKGROUND: Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit mutation was identified in one lesion. This finding suggests that GVM results from complete localised loss of function and explains the paradominant mode of inheritance. OBJECTIVE: To report on the identification of a mutation in glomulin in 23 additional families with GVM. RESULTS: Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in glomulin known up to now in 43 families, the 157delAAGAA mutation is the most common and was present in 21 families (48.8%). Mutation 108C-->A was found in five families (11.8%), and the mutations 554delA+556delCCT and 1179delCAA were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. CONCLUSIONS: Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in glomulin has been found in all GVM families tested, thus demonstrating locus homogeneity.

Adaptor Proteins, Signal Transducing↗
PubMed2005

[What additional measures should be recommended in atopic dermatitis in children?].

The so-called 'adjuvant' measures are an important part of atopic dermatitis (AD) consultations. The practitioner is the 'expert' in the patients' eyes in prescribing, proposing, counselling and replying to the questions concerning moisturizers, thermal spring water cures, the resort to alternative medical, and vaccinations. Moisturizers are aimed at rapidly restoring water in the epidermis, decreasing the sensitivity to irritants and improving the patients' comfort. The available products are usually composed of water, occlusive agents, humidifiers, varyingly combined with tensioactive agents, preservatives and perfumes... Their short term efficacy has been demonstrated, but no study has shown superiority of one product over another. The recommended treatment is 1 to 2 daily applications of a cream or lotion, selected among the products having demonstrated their efficacy, contained the least amount of irritant or sensitizers, the presentation and cost of which is acceptable to the patient. There are no arguments to recommend moisturizers in the absence of xerosis, nor for prolonged periods of clinical remission. Spring water thermal cures. In France there are many cure centres and the spring waters used are distinguished by their clinical or physical features. Although there are no studies that clearly establish their efficacy in AD, the craze and satisfaction of many patients for spring water thermal cures must be taken into consideration, as well as the educational dimension, in the hopes that a consensus will be reached and that regular assessments be made. Alternative medical practices, such as homeopathy or acupuncture, represent a therapeutic alternative chosen by more than one third of patients with AD. However, no study has sufficiently demonstrated the interest of these alternatives and they cannot therefore be integrated in the validated arsenal of treatments. Used in various oriental countries, Chinese herbs have been the subject of controlled studies with encouraging results. But the data available on safety prompt greater care and do not promote the use of such products in children. Vaccination of atopic children is a much debated subject among the medical corps, although currently consensual attitude is possible. In general, there is no reason to limit or delay the French vaccination calendar of an atopic child. Notably vaccination with ROR can be used routinely, even in those allergic to eggs. It is sometimes logical to avoid vaccination during severe flares of eczema. In the case of documented allergy to eggs, the flu and yellow fever vaccinations should be avoided, except in exceptional cases when vaccination is made in hospital settings.

Child↗
PubMed2003

[Eccrine squamous syringometaplasia and cytomegalovirus infection].

BACKGROUND: Eccrine squamous syringometaplasia has been reported in some cases as an Herpeviridae complication. We report a case of eccrine squamous syringometaplasia associated with a severe cytomegalovirus infection in an immunocompromised patient, and we discuss about potential viral or drug triggering factors. METHODS: A 22 years-old man was hospitalized in an intensive care unit for rejection of a renal graft associated with a disseminated cytomegalovirus infection. A papular and papulopustular eruption appeared on the trunk and the limbs. RESULTS: Histological examination of a skin sample showed eccrine squamous syringometaplasia, with evidence of cytomegalovirus genomic sequences using PCR. Two weeks later, the patient developed toxic epidermal necrolysis, with fatal issue. CONCLUSIONS: Eccrine squamous syringometaplasia is a rare condition, without specific clinical features. Numerous local affections have been reported to induce eccrine syringometaplasia (ulcer, scar, pyoderma gangrenosum, drug injection.), drugs (cytotoxic agents, non steroidal anti inflammatory therapies) and in cases of infection due to cytomegalovirus or herpes simplex virus. The potential implication of cytomegalovirus or foscarnet as triggering factors in our case is discussed. This observation and other similar reported cases lead to the conclusion that eccrine squamous syringometaplasia may be an underestimated complication of cytomegalovirus infections in immunocompromised patients.

Adult↗
PubMed2003

Life-threatening haemorrhage as a complication of a congenital haemangioma.

UNLABELLED: Life-threatening complications of congenital haemangiomas are rare. A case of haemorrhage in a neonate is reported here. A neonate presented a congenital haemangioma of the limb complicated by a massive life-threatening haemorrhage. Colour ultrasonography showed a hypervascularized, highly haemodynamically active mass with a large, superficial drainage vein just under the ulceration. Surgical resection was performed with satisfactory postoperative outcome and no evidence of recurrence. CONCLUSION: Early surgical removal can be a good therapeutic option for complicated congenital haemangiomas.

Hemangioma↗
PubMed2003

Lupus-erythematosus-like eruption induced by Trichophyton mentagrophytes infection.

BACKGROUND: Several factors are known to trigger acute manifestations of lupus erythematosus (drugs, ultraviolet radiation, bacterial or viral infections, pregnancy), but fungal infections have never been reported to induce lupus-like lesions. We describe 2 children with tinea capitis caused by Trichophyton mentagrophytes(TM), who developed transient skin and serological manifestations of systemic lupus erythematosus. PATIENTS: Case 1, a 3-year-old girl, had a kerion due to TM transmitted by an octodon, and a facial skin eruption suggestive of systemic lupus erythematosus. Antinuclear antibodies (ANA) were positive at 1:250. After griseofulvin treatment, the lupus-like rash completely regressed, and the ANA titre decreased. Case 2, a 4-year-old girl, had occipital kerion and an annular scaly erythema on the shoulder caused by TM. She also had a non-scaly rash on the face and a recent history of photosensitivity. The ANA titre was positive at 1:8,000. Cutaneous lesions disappeared after an 8-week griseofulvin therapy, and ANA titres decreased progressively. CONCLUSIONS: 'New pets' are usually the vectors of TM, especially familiar rodents like the degu of Chile (also named octodon). In our 2 cases, lupus-like rashes began before the onset of griseofulvin treatment, suggesting a pathogenic role of the dermatophyte. A wide variety of lesions named 'mycides' was described several decades ago associated with TM infections. We hypothesize that these mycides and the TM-induced lupus-like lesions reported in our 2 cases could represent the same entity.

Animals↗
PubMed2003

[Kawasaki's disease with eruptive pustular and guttate psoriasis].

BACKGROUND: Kawasaki's disease may have numerous atypical forms and these must be recognized in order to avoid delay of treatment. We report a case of psoriasis, first pustular and then guttate, occurring during Kawasaki's disease, and discuss a common pathophysiological mechanism. CASE-REPORT: A 3 year-old boy was seen for a febrile exanthema suggestive of Kawasaki disease (bilateral conjunctivitis, red and fissured lips, palmoplantar erythema, scarlet fever-like rash and perineal desquamation) associated with pustular lesions. A biopsy specimen of a pustular area showed histological features consistent with the diagnosis of pustular psoriasis. No coronary abnormality was found. The child was treated with intravenous immunoglobulins (2 g/kg) and oral aspirin (60 mg/kg/d). All the symptoms disappeared and immediate follow-up was marked by the appearance of guttate psoriasis. DISCUSSION: Onset of psoriatic lesions during Kawasaki disease has been reported in 12 cases, either in acute phase or in immediate follow-up. Coronary complications have been found in 4 of 5 cases with acute psoriasis, suggesting a severe prognosis for this association. The hypothesis of a common pathophysiological mechanism is discussed with the intervention of a bacterial toxin acting as a superantigen and resulting in an strong activation of T-cells that leads to keratinocyte activation. The psoriatic lesions could hence be considered as a form of Köbner's phenomenon.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed2002

Pulsed dye laser for Sturge-Weber syndrome.

Port wine stain of Sturge-Weber syndrome represents a cosmetic prejudice with social consequences. We have treated eight patients with a 585 nm pulsed dye laser. According to our experience, the treatment is not risky provided that adequate care is taken; the cosmetic result on the V1 port wine stain component is satisfactory.

Adolescent↗
PubMed2002

[Blood pressure monitoring in infants with hemangiomas treated with corticosteroids].

INTRODUCTION: Alarming hemangiomas can be successfully treated with corticosteroids. The risk of hypertension is poorly documented in this setting. We conducted a prospective study in infants with hemangiomas treated with orally administered prednisone. PATIENTS AND METHODS: Thirty-seven patients with rapidly growing complicated hemangiomas were enrolled between January 1998 and November 1999. Steroid dosages varied from 1 mg/kg/d to 5 mg/kg/d. Blood pressure measurements were performed first twice a month, then monthly at rest with a Critikon Dynamap device. Hypertension was defined as blood pressure superior to 110/60 mmHg, and borderline if superior to 110/60 mmHg on only one or two measurements. RESULTS: Increased blood pressure was found in seven infants (19 p. 100). One infant had hypertension requiring specific treatment and blood pressure was borderline on six patients at one or two occasions. Cardiac ultrasound examination was performed in five patients revealing two cases of myocardic hypertrophy, which regressed after stopping steroids and without relationship to hypertension. CONCLUSION: Even though the definition of hypertension in still arbitrary in infants, the measurement of blood pressure is necessary when steroid therapy is given for the treatment of hemangiomas. Blood pressure measurement can be difficult in very young children and overestimation is frequent if an inadequate device is used. The exact place of cardiac ultrasound remains to be defined in the management of alarming hemangiomas.

Adrenal Cortex Hormones↗