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Biomedical subjects

P Berbis

Publications and source records attributed to P Berbis.

At least 19 recordsLinked to original sources
PubMed2003

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.

The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering since birth from a nonpruritic generalized urticaria, with inflammatory flares, joint manifestations and progressive deafness requiring a bilateral hearing aid. An initial diagnosis of Muckle-Wells syndrome was made. However, the patient had an unusual clinical presentation with slightly dysmorphic facial appearance, clubbing of the fingers, mild mental retardation and papilledema. After a genetic advice, a diagnosis of CINCA syndrome was made. Search for mutations in the CIAS1 gene revealed a new mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.

Adult↗
PubMed2002

[Raynaud's syndrome in children. Study of 23 cases].

AIM OF THE STUDY: To analyze the epidemiological characteristics of Raynaud's syndrome in childhood. PATIENTS AND METHODS: We conducted a nine-year-retrospective survey of children up to 17 y seen with Raynaud's syndrome. Charts were retrieved from pediatrics and dermatology outpatient units, and from the registry of capillaroscopy. A specific questionnaire was designed and missing data were completed after a phone interview of the parents. RESULTS: A definite diagnosis of Raynaud's syndrome was ascertained in 23 patients with marked female predominance (SR = 0.27). Triggering factors were essentially a cold environment and emotions. The mean age at the diagnosis was 11 y (5 to 16 y) with an onset after ten years in 65% of cases. Eleven of these Raynaud's syndromes were secondary with ten connectivitis, eight remained essential and four were suspected to be secondary. DISCUSSION: This series of pediatric Raynaud's syndromes was important according to scarcity of literature on this topic. The diagnosis is made upon exclusive clinical basis and we underline the high frequency of serious underlying conditions. Further etiologic investigations are mandatory for any pediatric patient with Raynaud's syndrome. The sensitivity (78%) and specificity (80%) of capillaroscopy were of interest in our patients; its prognosis value needs to be evaluated in a larger group of patients.

Adolescent↗
PubMed2002

[Pruritus].

Explore the source record for details and available documents.

Diagnosis, Differential↗
PubMed1999

[KID syndrome (keratitis, ichthyosis and deafness)].

Keratitis, ichthyosis and deafness are the dominant signs of KID syndrome. The lesions involving cornea, epidermis and internal ear are probably the result of a congenital ectodermal abnormality. Associated signs such as increased sensitivity to infections, and dermoskeleton dystrophies are also useful for the diagnosis. There are no specific biological signs. Most cases are sporadic but familial cases have been described with unclear mode of inheritance. Treatment is disappointing. Thus management mainly relies upon early detection of complications.

Diagnosis, Differential↗
PubMed1999

Excessive concern with physical appearance leading to a diagnosis of adrenal adenoma.

We report an unusual case of Cushing's syndrome manifested by anxiety over body image in a 26-year-old nurse. Initial presentation was a 'dermatological non-disease'. Clinical signs became increasingly evident during the course of the disease, justifying an adrenal gland evaluation which showed a secreting adrenocortical adenoma. Surgical treatment led to recovery with return to normal appearance and cessation of her aesthetic complaints. Our observation shows that persistent aesthetic complaints may sometimes reveal early hypercorticism.

Adrenocortical Adenoma↗
PubMed1998

[Blue nevus of the scalp associated with a meningeal melanocytoma].

INTRODUCTION: Headache opposite to a blue nevus of the scalp can reveal intra cranial melanotic lesions. CASE REPORT: A 25-year-old man caucasian was admitted to hospital for a first generalized tonic-clonic seizure. For six months, he has had episodic frontal-temporal right headache opposite to a blue pigmentary cutaneous congenital lesion in frontal territory (histology confirmed benign blue nevus). Neurologic examination noted a right congenital hereditary ophtalmoplegia. Cerebral MRI showed a right rolandic tumor with diffuse leptomeninge infiltration. This patient was operated of a meningeal melanocytoma with leptomeninges melanosis. DISCUSSION: The apparition of headache related to a blue nevus must lead to realize a cerebral MRI to look for a neuroectodermic hamartoma: melanotic tumor (in particular melanoma), or leptomeninges melanosis with high potential of degeneration. Meningeal melanocytoma is a rare benign spinal or intra cranial melanotic tumor.

Adult↗
PubMed1997

Evidence for a tissue-specific induction of cutaneous CYP2E1 by dexamethasone.

We studied in mouse the effect of topical application of dexamethasone or salicylic acid, on CYP2E1 and CYP3A expression (proteins and/or mRNA) in liver and skin. Dexamethasone was also administered by intraperitoneal injection. Topical application or intraperitoneal injection of dexamethasone increased cutaneous CYP2E1 (8 and 4-fold respectively) whereas the hepatic level of this isoform showed a slight decrease and hepatic CYP3A expression was increased (3-fold). Cutaneous CYP2E1 was increased (3-fold) after topical treatment by salicylic acid. This compound had no effect on hepatic CYP3A and CYP2E1 expression. Cutaneous CYP3A (protein and mRNA) was not detectable in all groups (control or treated animals). Dexamethasone and salicylic acid increased cutaneous CYP2E1 mRNA level (2.5 and 1.4-fold respectively). In conclusion, dexamethasone and salicylic acid induced cutaneous CYP2E1 protein and mRNA level. Cutaneous CYP2E1 induction by dexamethasone is a tissue-specific process.

Administration, Topical↗
PubMed1996

[Melkersson-Rosenthal syndrome. Value of reduction cheiloplasty].

INTRODUCTION: The interest of cheiloplasty is not precisely defined in the treatment of Melkersson-Rosenthal syndrome (MRS). OBSERVATION: The case of a 32-year-old woman, suffering from a typical MRS is reported. The lack of efficacy of various classical molecules (corticoseroids, hydroxychloroquine, dapsone, colchicine, clofazimine) led to a surgical therapy, consisting in cheiloplasty. Systemic corticosteroids were associated. The result was good, with a follow-up of 2 years. COMMENTS: Cheiloplasty is essentially of cosmetical interest, in the MRS, once the inflammatory process has been stopped (almost one year). Medical treatment (corticosteroids), is to be continued after surgery, to avoid recurrence.

Adult↗
PubMed1996

[Anetoderma during antiphospholipid syndrome. 3 cases].

INTRODUCTION: Anetoderma is a skin disease of unknown etiology sometimes encountered in patients with a lupus syndrome. We report a clinical and pathology analysis of 3 selected cases of anetoderma associated with systemic lupus erythematosus and/or antiphospholipid syndrome. CASE REPORTS: Three patients had skin lesions typical of anetoderma. Antiphospholipid antibodies were present in all three (anticardiolipin in 3, circulating lupus anticoagulants in 3, anti-beta 2GP1 in 2). One patient with systemic lupus erythematosus had signs of antiphospholipid syndrome, the two others had primary antiphospholipid syndrome. DISCUSSION: The analysis of our cases and a review of the literature suggest that anetoderma is a disease which develops in the immunological environment of lupus, and is apparently more related to the presence of antiphospholipids than lupus itself. Thus anetoderma could be another cutaneous sign of the antiphospholipid syndrome.

Adult↗