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  1. AU="González-Enseñat, Maria Antònia"
  2. AU=Camara Amadou K S
  3. AU="Luginbuehl, Helena"
  4. AU="Irani, Zubin A"
  5. AU="Santos, H"
  6. AU="Villota-Rivas, Marcela"
  7. AU="Sepe, Thomas"
  8. AU="Prasad, Aman"
  9. AU="Bortz, Cole"
  10. AU="Clarke, Julia R"
  11. AU=Jordan William D Jr
  12. AU="Frangaj, Brulinda"
  13. AU="Oostindjer, Andrew"
  14. AU="Diarra, Zoumana"
  15. AU="Saragoni, V G"

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  1. Artikel ; Online: Familial drug reaction with eosinophilia and systemic symptoms syndrome.

    Morgado-Carrasco, Daniel / Fustà-Novell, Xavier / Mascaró, José M / Gonzalez-Enseñat, María Antonia / Vicente-Villa, Asunción

    Indian journal of dermatology, venereology and leprology

    2021  Band 87, Heft 3, Seite(n) 383–385

    Mesh-Begriff(e) Adult ; Child ; Drug Hypersensitivity Syndrome/diagnosis ; Drug Hypersensitivity Syndrome/etiology ; Drug Hypersensitivity Syndrome/therapy ; Humans ; Male
    Sprache Englisch
    Erscheinungsdatum 2021-03-05
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Letter
    ZDB-ID 416068-x
    ISSN 0973-3922 ; 0019-5162 ; 0378-6323
    ISSN (online) 0973-3922
    ISSN 0019-5162 ; 0378-6323
    DOI 10.25259/IJDVL_654_18
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  2. Artikel ; Online: Lichen striatus following scarlet fever in a 3-year-old female patient.

    Richarz, Nina A / Fustà-Novell, Xavier / Fatsini-Blanch, Vanessa / Fortuny, Claudia / González-Enseñat, María Antonia / Vicente, Asunción

    International journal of dermatology

    2018  Band 57, Heft 9, Seite(n) 1118–1119

    Mesh-Begriff(e) Anti-Inflammatory Agents/therapeutic use ; Child, Preschool ; Female ; Humans ; Lichenoid Eruptions/complications ; Methylprednisolone/therapeutic use ; Scarlet Fever/complications ; Scarlet Fever/drug therapy
    Chemische Substanzen Anti-Inflammatory Agents ; Methylprednisolone (X4W7ZR7023)
    Sprache Englisch
    Erscheinungsdatum 2018-04-14
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 412254-9
    ISSN 1365-4632 ; 0011-9059 ; 1461-1244
    ISSN (online) 1365-4632
    ISSN 0011-9059 ; 1461-1244
    DOI 10.1111/ijd.13995
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  3. Artikel ; Online: Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

    Esperón-Moldes, Uxia / Ginarte-Val, Manuel / Rodríguez-Pazos, Laura / Fachal, Laura / Martín-Santiago, Ana / Vicente, Asunción / Jiménez-Gallo, David / Guillén-Navarro, Encarna / Sampol, Loreto Martorell / González-Enseñat, María Antonia / Vega, Ana

    PloS one

    2020  Band 15, Heft 2, Seite(n) e0229025

    Abstract: Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish ... ...

    Abstract Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.
    Mesh-Begriff(e) Alleles ; Amino Acid Substitution ; Child ; Child, Preschool ; Cytochrome P-450 Enzyme System/chemistry ; Cytochrome P-450 Enzyme System/genetics ; Female ; Founder Effect ; Genes, Recessive ; Haplotypes ; Humans ; Ichthyosis, Lamellar/genetics ; Male ; Middle Aged ; Models, Molecular ; Mutation ; Pedigree ; Phenotype ; Protein Conformation ; Spain ; Structure-Activity Relationship
    Chemische Substanzen Cytochrome P-450 Enzyme System (9035-51-2) ; CYP4F22 protein, human (EC 1.-)
    Sprache Englisch
    Erscheinungsdatum 2020-02-18
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0229025
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Sequelae following infantile haemangiomas treated with propranolol.

    Baselga, Eulalia / El Hachem, May / Diociaiuti, Andrea / Carnevale, Claudia / Downey, Camila / Roe, Esther / Mascaro, Patricia / Neri, Iria / Leuzzi, Miriam / Bernabeu-Wittel, José / Monserrat-García, Maria Teresa / Ortiz-Prieto, Alejandro / Torrelo, Antonio / Knopfel, Nicole / Vercellino, Nadia / Manunza, Francesca / Oranges, Teresa / Bassi, Andrea / Gonzalez-Enseñat, Maria Antonia /
    Vicente, Asunción / Gich, Ignasi / Puig, Luis

    European journal of dermatology : EJD

    2022  Band 31, Heft 6, Seite(n) 785–790

    Abstract: Background: Oral propranolol accelerates the involution of infantile haemangiomas (IHs). However, it is not clear whether IHs treated with oral propranolol are associated with fewer sequelae than when left untreated.: Objectives: To quantify and ... ...

    Abstract Background: Oral propranolol accelerates the involution of infantile haemangiomas (IHs). However, it is not clear whether IHs treated with oral propranolol are associated with fewer sequelae than when left untreated.
    Objectives: To quantify and describe sequelae associated with IHs treated with oral propranolol, and to explore whether treated IHs are associated with fewer sequelae than untreated IHs.
    Materials & methods: This multicentre, retrospective, cohort study included patients with IH treated with oral propranolol ≥2 mg/kg for at least six months, with photographic images available at baseline and at age 4-5 years. A historical comparison cohort comprised 185 patients with untreated IHs. Main outcomes/measures were: IH features, treatment characteristics and type/degree of sequelae.
    Results: Oral propranolol, most commonly at 2 mg/kg/day (mean duration: nine months), was initiated in 171 patients (mean age: 6.02 months). After treatment, 125 of 171 (73.1%) IHs were associated with no/minimal sequelae. The most common sequelae were telangiectasia (78%), fibrofatty tissue (37%) and anetodermic skin (28%). Deep IHs were associated with significantly fewer sequelae than other subtypes. Ulceration appeared to increase the likelihood of severe sequelae. IHs with a stepped border was associated with more severe sequelae than those with a progressive border (44% versus 27%, p < 0.05). Treated IHs resolved without sequelae or were associated with a sequela that did not need correction in 27.7% more cases than untreated IHs (RR: 1.61; p < 0.001).
    Conclusion: Among IHs treated with oral propranolol, 73% resolved without, or were associated with minimal sequelae. Deep IHs were associated fewer sequelae than other subtypes. Oral propranolol decreased the likelihood of IH sequelae requiring correction.
    Mesh-Begriff(e) Administration, Oral ; Antineoplastic Agents/administration & dosage ; Female ; Hemangioma/drug therapy ; Hemangioma/pathology ; Humans ; Infant ; Male ; Propranolol/administration & dosage ; Retrospective Studies ; Skin Neoplasms/drug therapy ; Skin Neoplasms/pathology ; Treatment Outcome
    Chemische Substanzen Antineoplastic Agents ; Propranolol (9Y8NXQ24VQ)
    Sprache Englisch
    Erscheinungsdatum 2022-02-11
    Erscheinungsland France
    Dokumenttyp Journal Article ; Multicenter Study
    ZDB-ID 1128666-0
    ISSN 1952-4013 ; 1167-1122
    ISSN (online) 1952-4013
    ISSN 1167-1122
    DOI 10.1684/ejd.2021.4172
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Cutaneous Mucinosis of Infancy: A Rare Congenital Case with Coexisting Progressive, Eruptive, and Spontaneously Involuting Lesions.

    Mir-Bonafé, José M / Vicente-Villa, Asunción / Suñol, Mariona / Soria, Xavier / González-Enseñat, María Antonia

    Pediatric dermatology

    2015  Band 32, Heft 6, Seite(n) e255–8

    Abstract: Cutaneous mucinosis in infancy is rare. We report an infant with multiple congenital papules distributed over the trunk, neck, and extremities. These papules were mainly dispersed, but they also coalesced into plaques. Histopathologic findings showed ... ...

    Abstract Cutaneous mucinosis in infancy is rare. We report an infant with multiple congenital papules distributed over the trunk, neck, and extremities. These papules were mainly dispersed, but they also coalesced into plaques. Histopathologic findings showed features of cutaneous mucinosis of infancy (CMI). Over 2 years of follow-up, we observed that the preexisting lesions on the lower back and left trunk progressively increased in size, and a few new scattered papules continued to appear, mainly on the trunk; several lesions spontaneously resolved with no further complications. CMI is considered to be a persistent cutaneous disorder, even though spontaneously regressing cases have rarely been reported. This case demonstrates the broad clinical spectrum of CMI, with progressive, eruptive, and spontaneously involuting lesions all present in the same patient. This condition should be considered in the differential diagnosis of congenital or infantile-onset papules and plaques, especially those yellowish in color.
    Mesh-Begriff(e) Diagnosis, Differential ; Female ; Humans ; Infant ; Mucinoses/congenital ; Mucinoses/diagnosis ; Skin/pathology ; Skin Diseases/congenital ; Skin Diseases/diagnosis
    Sprache Englisch
    Erscheinungsdatum 2015-11
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.12679
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  6. Artikel ; Online: Demodicosis in two patients with a previous history of Langerhans cell histiocytosis.

    Álvarez-Salafranca, Marcial / Vicente, Asunción / Prat Torres, Carolina / Combalia, Andrea / Monsonís, Manuel / Celis-Passini, Veronica Paola / González-Enseñat, María Antonia

    Pediatric dermatology

    2017  Band 34, Heft 6, Seite(n) e299–e301

    Abstract: Demodex mites are commensal organisms rarely found in healthy children. Human demodicosis can be classified as a primary or a secondary form. The secondary form in children usually affects severely immunodepressed children. To our knowledge, this is the ... ...

    Abstract Demodex mites are commensal organisms rarely found in healthy children. Human demodicosis can be classified as a primary or a secondary form. The secondary form in children usually affects severely immunodepressed children. To our knowledge, this is the first report of human demodicosis associated with Langerhans cell histiocytosis. These cases show that this skin disorder can occur months after completing chemotherapy, without recurrence of the systemic disease.
    Sprache Englisch
    Erscheinungsdatum 2017-11
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.13286
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  7. Artikel ; Online: Unknown: a congenital nodule on the scapula.

    Lacruz, Goretti / González-Enseñat, Maria Antònia / Suñol, Mariona / Vicente, Asunción

    Dermatology online journal

    2012  Band 18, Heft 10, Seite(n) 12

    Abstract: We present a new case of a cutaneous bronchogenic cyst on the scapular area in a 2-year-old boy. The asymptomatic nodule over his right scapula had been detected at birth and had been gradually growing. Cutaneous bronchogenic cysts located near the ... ...

    Abstract We present a new case of a cutaneous bronchogenic cyst on the scapular area in a 2-year-old boy. The asymptomatic nodule over his right scapula had been detected at birth and had been gradually growing. Cutaneous bronchogenic cysts located near the scapula are extremely rare. The proposed mechanism is that the accessory buds from the tracheobronchial tree/primitive foregut migrated from the thorax in an aberrant manner to lie in a periscapular position. Cutaneous bronchogenic cysts are poorly recognized by clinicians because they lack pathognomonic clinical symptoms. The diagnosis is based on the histopathological findings in the majority of cases. Complete excision and histological examination are indicated to confirm the diagnosis, to relieve symptoms, and to prevent complications, such as infection or malignancy.
    Mesh-Begriff(e) Bronchogenic Cyst/congenital ; Bronchogenic Cyst/diagnosis ; Bronchogenic Cyst/pathology ; Child, Preschool ; Humans ; Male ; Scapula ; Skin Diseases/congenital ; Skin Diseases/diagnosis ; Skin Diseases/pathology
    Sprache Englisch
    Erscheinungsdatum 2012-10-15
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2026239-5
    ISSN 1087-2108 ; 1087-2108
    ISSN (online) 1087-2108
    ISSN 1087-2108
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  8. Artikel ; Online: Epidermal Choristoma of the Tongue Mimicking a Congenital Melanotic Macule.

    Curto-Barredo, Laia / Vicente, Asunción / Rovira, Carlota / García-Diez, Eloy / Pujol, Ramón M / González-Enseñat, Maria Antonia

    Pediatric dermatology

    2015  Band 32, Heft 4, Seite(n) 536–538

    Abstract: We report the fifth case of epidermal choristoma of the oral cavity in a Caucasian newborn with a congenital melanotic macule on the dorsum of the tongue. Epidermal choristoma is an exceedingly rare and benign condition probably caused by a developmental ...

    Abstract We report the fifth case of epidermal choristoma of the oral cavity in a Caucasian newborn with a congenital melanotic macule on the dorsum of the tongue. Epidermal choristoma is an exceedingly rare and benign condition probably caused by a developmental abnormality. It is identified according to the presence of normal skin in an abnormal location. Histologically it is identified according to areas of stratified epithelium and hyperpigmentation of the basal layer along with cutaneous adnexal structures (hair follicles, sebaceous or sweat glands). The clinical presentation is variable, but most of the cases described presented with a congenital lingual pigmented macule. These lesions should be included within the differential diagnosis of congenital lingual macules and distinguished from other entities such as congenital lingual melanotic macules and melanocytic lesions. Surgical excision is the treatment of choice. Epidermal choristoma is a benign condition that probably is underdiagnosed because it is a new and rare entity, and dermatologists should be aware of it.
    Mesh-Begriff(e) Biopsy ; Choristoma/diagnosis ; Diagnosis, Differential ; Humans ; Infant, Newborn ; Male ; Melanosis/diagnosis ; Sebaceous Glands ; Tongue Diseases/diagnosis ; Tongue Diseases/pathology
    Sprache Englisch
    Erscheinungsdatum 2015-07
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.12487
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  9. Artikel ; Online: Fever and skin lesions in a healthy 6-month-old boy. Diagnosis: Ecthyma gangrenosum.

    Mota-Burgos, Ana / Villa, Asunción Vicente / Noguera-Julian, Antoni / Fortuny, Claudia / González-Enseñat, María Antonia

    The Pediatric infectious disease journal

    2012  Band 31, Heft 7, Seite(n) 789, 794

    Mesh-Begriff(e) Ecthyma/diagnosis ; Ecthyma/microbiology ; Ecthyma/pathology ; Fever/etiology ; Humans ; Infant ; Male ; Pseudomonas Infections/diagnosis ; Pseudomonas Infections/microbiology ; Pseudomonas Infections/pathology ; Pseudomonas aeruginosa/isolation & purification ; Skin/pathology
    Sprache Englisch
    Erscheinungsdatum 2012-07
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 392481-6
    ISSN 1532-0987 ; 0891-3668
    ISSN (online) 1532-0987
    ISSN 0891-3668
    DOI 10.1097/INF.0b013e31824f1d7f
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  10. Artikel ; Online: Picture of the month--quiz case. Kindler syndrome.

    Leal, Lorena / Vicente, María Asunción / Mascaró, Josep Maria / Bombí, Josep Antoni / González-Enseñat, María Antonia

    Archives of pediatrics & adolescent medicine

    2010  Band 164, Heft 9, Seite(n) 875–876

    Mesh-Begriff(e) Atrophy ; Child, Preschool ; Epidermolysis Bullosa/diagnosis ; Epidermolysis Bullosa/genetics ; Female ; Genes, Recessive ; Hand Deformities, Congenital/etiology ; Hand Deformities, Congenital/genetics ; Humans ; Indians, Central American/genetics ; Panama ; Pigmentation Disorders/etiology ; Pigmentation Disorders/genetics ; Skin/pathology ; Skin Aging ; Syndrome
    Sprache Englisch
    Erscheinungsdatum 2010-09
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1179374-0
    ISSN 1538-3628 ; 1072-4710
    ISSN (online) 1538-3628
    ISSN 1072-4710
    DOI 10.1001/archpediatrics.2010.150-a
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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