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Background There is limited information regarding early development of soft-tissue and/or bone hypertrophy with facial port-wine stains (PWS). Objective We sought to characterize patients with hypertrophic PWS presenting during childhood. Methods Patients with a facial PWS and underlying hypertrophy that developed before the age of 18 years were included in a multicenter retrospective study. Age at onset of the hypertrophy, its location, association with odontologic problems, presence of other associated complications, and response to laser treatment were recorded. Results A total of 98 patients were included. The mean age at onset of hypertrophy, retrieved for 77 of 98 patients, was 5.6 years. The hypertrophy was congenital in 26%. Odontologic problems were noted in 39.8% of cases. Other complications, including cataract, asymmetric development of the maxillary bone, and speech delay/disorders, were reported in 18.4%. In all, 67 patients received laser treatment. Only 3% achieved complete or nearly complete clearance of the PWS. Limitations As only cases of PWS with early-onset hypertrophy were included, we were unable to calculate the prevalence of this manifestation. Conclusion PWS with early-onset hypertrophy are associated with a high rate of complications and a poor response to laser treatment. Periodic monitoring is recommended for early detection and treatment of complications.

Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations exchanging highly conserved amino acids of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype. MBTPS2, a membrane-embedded zinc metalloprotease, activates signaling proteins involved in sterol control of transcription and ER stress response. Wild-type MBTPS2 was able to complement the protease deficiency in Chinese hamster M19 cells as shown by induction of an SRE-regulated reporter gene in transient transfection experiments and by growth of stably transfected cells in media devoid of cholesterol and lipids. These functions were impaired in five mutations as detected in unrelated patients. The degree of diminished activity correlated with clinical severity as noted in male patients. Our findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress.

Introduction Certains angiomes plans comportent une hypertrophie tissulaire precoce differente de l’hypertrophie cutanee des « angiomes plans vieillis ». Leur profil evolutif et la reponse therapeutique semblent specifiques. L’objectif de cette etude etait d’evaluer les caracteristiques cliniques des angiomes plans precocement hypertrophiques du visage ainsi que leur reponse au traitement laser. Materiel et methodes Etude retrospective dans 12 centres dermatologiques. Les donnees etaient recueillies a l’aide d’un questionnaire standardise. Etaient recueillis : le sexe, l’âge au debut de l’hypertrophie et au moment de la consultation, la localisation de l’angiome et de l’hypertrophie, les complications associees, les eventuels traitements realises et l’âge au debut du traitement, le type de laser, le nombre de seances, la duree totale du traitement et la reponse therapeutique. Resultats Quatre-vingt cas d’angiomes plans precocement hypertrophiques ont ete recueillis. Le sex-ratio H/F etait de 0,5. L’âge de debut de l’hypertrophie etait connu dans 57 cas. Il etait en moyenne de 6,5 ans (0–15). L’hypertrophie etait congenitale dans 11 cas sur 57(19,3 %). Les troubles odontologiques etaient frequents (38,8 %). Seize autres cas (20 %) avaient d’autres complications associees (cataracte, comitialite, asymetrie de developpement des maxillaires et troubles orthophoniques). Cinquante-sept ont ete traites par laser (laser a colorant pulse dans la majorite des cas) avec une moyenne de 14 seances (1–60) sur une periode moyenne de 8,2 ans (1–22). L’âge median de debut du traitement etait de 8 ans avec des extremes de 1 mois a 58 ans. Une amelioration 90 %). Discussion A notre connaissance, une seule etude s’est interessee aux angiomes plans hypertrophiques. Sur 335 patients âges de 0 a 81 ans, une hypertrophie etait observee chez 68 patients. Cependant, il s’agissait d’hypertrophies le plus souvent tardives survenant en moyenne apres l’âge de 31 ans. Seulement 6 patients avaient une hypertrophie avant 20 ans et aucune donnee specifique n’etait rapportee pour cette population. Notre serie confirme que les patients ayant un angiome plan du visage precocement hypertrophique ont un profil particulier avec un taux eleve de complications et des taux de reponse au traitement laser largement inferieurs a ce qui est habituellement observe dans les angiomes plans non precocement hypertrophiques. Conclusion Les enfants ayant un angiome plan precocement hypertrophique doivent faire l’objet d’une surveillance particuliere en raison de la frequence des complications associees. Le traitement par laser de ces formes parait tres decevant et les patients et leurs familles doivent en etre prevenus. Des etudes genetiques apparaissent importantes afin de determiner si ce phenotype clinique est associe a une ou plusieurs mutations particulieres.