Background: Angiokeratomas are papular telangiectasias having a common histology of ectasia of the superficial dermal vessels surmounted by a hyperkeratotic epidermis. Patients and methods: The patient was a 9-year-old girl born of non-consanguineous parents after a well-followed pregnancy with problem-free delivery at term. From birth, she had a tumefaction of the left side of the nose and the left half of the upper lip that gradually increased in size without obstructing the nasal orifice and bled easily. Examination revealed the presence of tumefaction of the left nostril and the left half of the upper lip projecting towards the contralateral side especially in the nose. It was soft and painless, with the presence at the surface of dull red keratotic papules of 1 to 2 mm in diameter. Examination of the nasal mucosa revealed the same appearance of papules. Discussion: Angiokeratoma circumscriptum is a rare congenital malformation, the rarest of five types. Since its initial description in 1890, few cases have been reported. However, female predominance has been noted with a male/female sex ratio of 1/3. It appears to be due to a genetic mutation that is probably autosomal, but the site of which is still unknown. In view of the special features of this case, several diagnoses were suggested, including Rendu Osler's disease, superficial lymphangioma and verrucous angioma. Conclusion: The particularity of this case is that it includes the first description of this site, which posed a therapeutic problem, especially concerning the choice of laser type to be used. © 2012 Elsevier Masson SAS.

Une nouvelle localisation de l'angiokératome circonscrit næviforme / M. Bouaddi, C. Colonna, R. Cavalli, C.M. Gelmetti. - In: ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE. - ISSN 0151-9638. - 139:11(2012 Nov), pp. 732-735.

Une nouvelle localisation de l'angiokératome circonscrit næviforme

C.M. Gelmetti
Ultimo
2012

Abstract

Background: Angiokeratomas are papular telangiectasias having a common histology of ectasia of the superficial dermal vessels surmounted by a hyperkeratotic epidermis. Patients and methods: The patient was a 9-year-old girl born of non-consanguineous parents after a well-followed pregnancy with problem-free delivery at term. From birth, she had a tumefaction of the left side of the nose and the left half of the upper lip that gradually increased in size without obstructing the nasal orifice and bled easily. Examination revealed the presence of tumefaction of the left nostril and the left half of the upper lip projecting towards the contralateral side especially in the nose. It was soft and painless, with the presence at the surface of dull red keratotic papules of 1 to 2 mm in diameter. Examination of the nasal mucosa revealed the same appearance of papules. Discussion: Angiokeratoma circumscriptum is a rare congenital malformation, the rarest of five types. Since its initial description in 1890, few cases have been reported. However, female predominance has been noted with a male/female sex ratio of 1/3. It appears to be due to a genetic mutation that is probably autosomal, but the site of which is still unknown. In view of the special features of this case, several diagnoses were suggested, including Rendu Osler's disease, superficial lymphangioma and verrucous angioma. Conclusion: The particularity of this case is that it includes the first description of this site, which posed a therapeutic problem, especially concerning the choice of laser type to be used. © 2012 Elsevier Masson SAS.
Introduction Les angiokératomes sont des télangiectasies papuleuses qui ont un aspect histologique commun, caractérisé par des ectasies vasculaires du derme superficiel surmontées d’un épiderme hyperkératosique. Leur aspect clinique les rend généralement facilement reconnaissables sans biopsie. Observation Une fille de neuf ans, issue d’un mariage non consanguin et d’une grossesse menée à terme sans problème particulier, présentait depuis la naissance une tuméfaction de l’aile gauche du nez et de la moitié gauche de la lèvre supérieure. La lésion augmentait progressivement de taille sans obstruer l’orifice nasal et saignait facilement aux traumatismes. L’examen constatait la présence d’une tuméfaction qui débordait vers le côté controlatéral, surtout au niveau du nez. Elle était de consistance molle, indolore et surmontée en superficie par des papules un peu kératosiques de 1 à 2 mm de diamètre, rouge foncé. L’examen de la muqueuse nasale objectivait le même aspect papuleux. Le diagnostic d’angiokératome était confirmé par la biopsie cutanée. Discussion L’angiokératome circonscrit est une malformation congénitale rare. Depuis sa première description en 1890, peu de cas ont été rapportés. On a néanmoins noté une prédominance féminine avec un sex-ratio homme/femme de 1/3. Notre observation est particulière par la localisation nasolabiale, qui n’a jamais été décrite à notre connaissance. Il s’agirait d’une mutation génétique qui est probablement autosomique mais dont le siège exacte est encore inconnu. Conclusion Notre observation est particulière par la localisation nasolabiale, qui n’a jamais été décrite à notre connaissance.
Angiokeratoma; Hemangioma; Naeviform; Vascular malformation; Angiokeratoma; Biopsy; Child; Diagnosis, Differential; Female; Humans; Laser Therapy; Lip Neoplasms; Nose Neoplasms; Skin; Skin Neoplasms
Settore MED/35 - Malattie Cutanee e Veneree
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/256082
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