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Dominique Hamel-Teillac

Publications and source records attributed to Dominique Hamel-Teillac.

9 recordsLinked to original sources
PubMed2005

Plexiform fibrohistiocytic tumor: three unusual cases occurring in infancy.

BACKGROUND: Plexiform fibrohistiocytic tumor is a soft-tissue tumor of intermediate malignancy occurring in children and young adults but is only rarely found in infants. The tumor usually involves the upper limbs and is slow growing and painless. Recurrence rate is high. Lymph node and systemic metastases can occur, but have never been reported in infants. Clinical behavior in infancy is not known. Histologically, the tumor is characterized by nodules of histiocyte-like and multinucleated cells and fascicles of spindle cells arranged in a plexiform pattern. Mitosis, atypia, and nuclear pleomorphism are common but not pronounced. METHODS AND RESULTS: We report three cases in infants, one of which is congenital, having an unusual topography and a broad histological spectrum. CONCLUSION: In infants, wide excision with large safety margins should be performed as the behaviour of this tumor remains uncertain. Leclerc S, Hamel-Teillac D, Oger P, Brousse N, Fraitag S. Plexiform fibrohistiocytic tumor: three unusual cases occurring in infancy.

Biomarkers, Tumor↗
PubMed2004

Skin markers of occult spinal dysraphism in children: a review of 54 cases.

OBJECTIVES: To verify the diagnostic value of lumbosacral midline cutaneous lesions in asymptomatic children to detect occult spinal dysraphism (OSD) and to propose a practical approach for clinical investigations with respect to the type of cutaneous lesions observed. DESIGN: Retrospective study of 54 children referred to the Department of Pediatric Dermatology between 1990 and 1999 for congenital midline lumbosacral cutaneous lesions. SETTING: The private or institutional practices of participating dermatologists and pediatricians. MAIN OUTCOME MEASURES: Evaluation of the diagnostic value of midline cutaneous lesions for the detec-tion of OSD. Association of skin examination findings with spinal anomalies detected by magnetic resonance imaging or ultrasound. RESULTS: Occult spinal dysraphism was detected in 3 of 36 patients with an isolated congenital midline lesion and 11 of 18 patients with a combination of 2 or more different skin lesions. CONCLUSIONS: A combination of 2 or more congenital midline skin lesions is the strongest marker of OSD. Careful dermatologic examination is needed to detect suggestive markers and request a spinal magnetic resonance image, which is the most sensitive radiologic approach to detect an OSD.

Adolescent↗
PubMed2004

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

BACKGROUND AND AIMS: Most human and animal cholestatic disorders are associated with changes in hepatocyte cytoskeleton and tight junctions (TJs). These changes are usually secondary and nonspecific phenomena, both in intra- and extrahepatic cholestasis. Recently, missense mutations in TJ protein 2 (ZO-2) have been identified in patients with familial hypercholanemia. In the liver, TJs separate bile flow from plasma and are composed of strands of claudins and occludin. We previously assigned a syndrome associating ichthyosis and neonatal sclerosing cholangitis (NISCH syndrome) to chromosome 3q27-q28. We considered claudin-1 to be a strong candidate gene based on its mapping to the minimum interval and on the expression pattern of the mouse ortholog. METHODS: The 4 exons and intron-exon junctions of claudin-1 gene were amplified using standard polymerase chain reaction protocols and specific primers. Western blot analysis on cultured fibroblasts and immunohistochemistry on liver tissue section were performed using rabbit anti-claudin-1 antibodies. RESULTS: We described in 4 patients, of 2 inbred kindred of Moroccan origin, a 2-bp deletion (200-201 TT) in exon 1 of the claudin-1 gene arising in a premature stop codon and resulting in total absence of claudin-1 protein in the liver and skin. CONCLUSIONS: Lack of claudin-1 in NISCH syndrome may lead to increased paracellular permeability between epithelial cells. Bile duct injury may be related to the absence of claudin-1 expression in cholangiocytes. Our observation, in conjunction with ZO-2-associated hypercholanemia, emphasizes the role played by TJ components in hereditary cholestasis.

Cholangitis, Sclerosing↗
PubMed2003

Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.

BACKGROUND: Incontinentia pigmenti (IP) is an X-linked genodermatosis that is manifested by neonatal inflammatory vesicles localized along the lines of Blaschko. These lesions usually clear spontaneously within a few months, leaving hyperpigmentation. Ophthalmologic and neurologic symptoms can be associated with IP. Late recurrences of the first-stage inflammatory lesions after the initial rash are uncommon and have been reported infrequently. The mechanism involved in this phenomenon is unclear. However, the recent identification of NEMO/IKKgamma as the gene responsible for IP sheds new light on its pathophysiologic origins. OBSERVATIONS: We report 5 cases of children who experienced episodes of late reactivation of IP. In all cases, the recurrences occurred on the previously hyperpigmented streaks several months or years after resolution of the initial eruptions. In most cases, the recurrences were preceded by an infectious episode. CONCLUSIONS: These IP recurrences suggest that mutated cells can persist a long time in the epidermis. We theorize that infections trigger the reactivations. The NEMO/IKKgamma gene encodes a protein essential in nuclear factor kappaB activation, which is required for resistance to tumor necrosis factor alpha-induced apoptosis. We discuss the role of a proinflammatory cytokine such as tumor necrosis factor alpha as a triggering factor for the reactivation.

Biopsy, Needle↗
PubMed2003

Clinical study of 40 cases of incontinentia pigmenti.

OBJECTIVE: To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP). DESIGN: Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999. SETTING: The private or institutional practice of participating dermatologists and pediatricians. MAIN OUTCOME MEASURES: Evaluation of IP clinical diagnosis using the Landy and Donnai criteria. RESULTS: Because hyperpigmentation following the Blaschko lines may be observed in several pigmented disorders, 7 patients were found misdiagnosed. During the neonatal period, erythema, vesicles, and hyperkeratotic le sions were rarely absent in the patients with IP. Ocular and neurological abnormalities were frequent (20% and 30%, respectively) but rarely severe (8% and 7.5%, respectively). CONCLUSIONS: Clinical diagnosis is the first main step for a correct phenotype/genotype correlation, which remains indispensable to better understand the pathological mechanisms of IP and develop new therapies. In doubtful cases, molecular analysis is helpful but characteristic histological features must be added as major criteria for IP diagnosis. Multidisciplinary follow-up is needed, particularly during the first year of life, to detect possible ophthalmologic and neurological complications. Neuroimaging ought to be performed in the case of abnormal neurological examination results or when vascular retinopathy is detected.

Child↗
PubMed2002

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Recently, we identified SPINK5, which encodes the serine protease inhibitor Kazal-type 5 protein (LEKTI), as the defective gene in Netherton syndrome. Here we describe the intron-exon organization of the gene and characterize the SPINK5 mutations in patients from 21 families of different geographic origin, using denaturing high performance liquid chromatography and direct sequencing. We identified 18 mutations, of which 13 were novel and seven (39%) were recurrent. The majority of the mutations were clustered between exons 1-8 and exons 21-26. They comprised four nonsense mutations (22%), eight frameshift insertions or deletions (44%), and six splice-site defects (33%). All mutations predict the formation of premature termination codons. Northern blot analysis showed variable reduction of SPINK5 mutant transcript levels, suggesting variable efficiency of nonsense-mediated mRNA decay. Seven patients were homozygotes, eight were compound heterozygotes, and five were heterozygotes with only one identifiable SPINK5 mutation. Five mutations, one of which resulted in perinatal lethal disease in three families, were associated with certain ethnic groups. We also describe 45 intragenic polymorphisms in the patients studied. The clinical features of erythroderma, trichorrhexis invaginata, and atopic manifestations were present in the majority of affected individuals and ichthyosis linearis circumflexa was seen in 12 out of 24 patients. Interfamilial and intrafamilial variation in disease severity was observed, with no clear correlation between mutations and phenotype, suggesting that the degree of severity may be affected by other factors.

Adolescent↗
PubMed2002

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

Ichthyosis is a heterogeneous group of skin disorders characterized by abnormal epidermal scaling. Occasionally, extracutaneous features are associated. A novel autosomal recessive ichthyosis syndrome is described here with scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in two inbred kindreds of Moroccan origin. We also report the mapping of the diseased gene to a 21.2 cM interval of chromosome 3q27-q28. Homo zygosity for polymorphic markers has enabled us to reduce the genetic interval to a 16.2 cM region. Furthermore, comparison of mutant chromosomes in the two families has suggested a common ancestral mutant haplotype. This linkage disequilibrium has reduced the genetic interval encompassing the diseased gene to less than 9.5 cM maximum. Further study of additional families from the same geographic area will hopefully reduce the genetic interval as well as help in the cloning of the gene involved in this rare disorder.

Adolescent↗