Didier Bessis

Le mosaïcisme pigmentaire de type hypomélanose de Ito se caractérise par des troubles pigmentaires congénitaux suivant les lignes de Blaschko. Nous rapportons une observation de mosaïcisme pigmentaire de type Ito associé à un déficit congénital en hormone de croissance ayant révélé une trisomie 20 en mosaïque.Un garçon de 4 ans était vu en consultation pour des troubles pigmentaires congénitaux. Ses antécédents étaient marqués par : un retard de croissance intra-utérin d’étiologie indéterminée, un syndrome dysmorphique, un retard psychomoteur avec troubles d’acquisition du langage, une cryptorchidie droite, un déficit congénital isolé idiopathique en hormone de croissance traité par somatropine recombinante depuis l’âge de 3 ans. L’examen clinique révélait une alternance de macules hypo et hyperpigmentées réparties de façon linéaire sur les membres, en « tourbillon » sur le tronc, suivant les lignes de Blaschko. Le caryotype sanguin était normal, le caryotype sur fibroblastes en peau hypopigmentée révélait une trisomie 20 en mosaïque.La survenue d’un mosaïcisme pigmentaire lié à une trisomie 20 en mosaïque est exceptionnelle. L’association mosaïcisme pigmentaire type Ito et retard de croissance par déficit en hormone de croissance n’a jamais été rapportée jusqu’à présent. Notre observation, particulière en raison de cette association, conduit à s’interroger sur l’existence éventuelle de gêne(s) associé(s) localisé(s) sur le chromosome 20 impliqué(s) dans la sécrétion de l’hormone de croissance et/ou de la mélanogenèse. Notre observation souligne l’intérêt d’effectuer une étude cytogénétique sur fibroblastes en peau lésée en cas de mosaïcisme pigmentaire type Ito même en cas de normalité du caryotype sanguin ou en l’absence d’anomalie phénotypique patente.Ito hypomelanosis-type pigmentary mosaicism is characterized by congenital pigmentation disorders along Blaschko's lines. We report a case of Ito-type pigmentary mosaicism associated with a congenital growth hormone deficiency having revealed trisomy 20 mosaicism.A 4 year-old boy presented with congenital pigmentation disorders. His history was marked by: inter-uterine delayed growth of unknown etiology, a dysmorphic syndrome, psychomotor retardation with speech problems, right cryptorchidia and an isolated, idiopathic, congenital growth hormone deficiency that had been treated with recombinant somatropine since the age of three. The clinical examination revealed alternating hypo and hyper-pigmented maculae with linear distribution on the limbs and in “twirls” on the trunk following Blaschko's lines. The blood karyotype was normal, the karyotype on fibroblasts of hypopigmented skin revealed trisomy 20 mosaicism.The occurrence of pigmentary mosaicism related to trisomy 20 mosaicism is exceptional. The combination of Ito hypomelanosis-type pigmentary mosaicism and delayed growth due to growth hormone deficiency has never been reported before. Our observation, unusual because of such an association, raises the question of the eventual existence of associated genes located on the chromosome 20 implied in the secretion of growth hormone and/or melanogenesis. It also underlines the interest of conducting cytogenic explorations on fibroblasts of damaged skin in the case of Ito-type pigmentary mosaicism, even if the blood karyotype is normal or in the absence of a patent phenotype abnormality.

Le syndrome macrocéphalie-cutis marmorata telangiectatica congenita est un syndrome polymalformatif congénital décrit en 1997 chez des enfants atteints d’une macrocéphalie, d’un cutis marmorata telangiectatica congenita et de diverses autres anomalies malformatives.Un garçon de six mois consultait pour une hémihypertrophie corporelle droite. L’examen clinique révélait une avance staturo-pondérale ainsi qu’une macrocrânie, un livedo diffus à grandes mailles pourpres par endroit atrophique, une syndactylie partielle bilatérale des 2e et 3e orteils ainsi que plusieurs malformations capillaires superficielles. Le développement psychomoteur était normal. Une imagerie par résonance magnétique cérébrale montrait un hémisphère et un ventricule latéral droit plus volumineux que le gauche sans anomalie malformative. Les radiographies du squelette notaient une inégalité de longueur des membres inférieurs.Cette observation est caractéristique du syndrome macrocéphalie - cutis marmorata telangiectatica congenita caractérisé par l’association d’une macrocéphalie et d’au moins deux des manifestations suivantes : hypertrophie segmentaire, cutis marmorata, anomalie vasculaire superficielle, polydactylie/syndactylie et asymétrie corporelle. Rarement détaillées dans la littérature dermatologique, nous rapportons les principales manifestations cliniques identifiées de ce syndrome polymalformatif.Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities.A six month-old boy was seen for hyperplasia of the right side of the body. Clinical examination disclosed overgrowth, macrocephaly, a generalized reticulated, blue-violet vascular network, partial bilateral syndactyly between the 2nd and 3rd toes, and several superficial capillary malformations. Psychomotor development was normal. Brain MRI showed enlargement of the right lateral ventricle and hemisphere in relation to the left side but without malformation. Radiological examination of the skeleton showed asymmetry of the limbs.The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry. We set out the major components of this polymalformative syndrome that are rarely reported in the dermatologic literature.

Some authors consider that morphoea and systemic sclerosis (SSc) could be part of the same disease spectrum. The aim of this study was to analyse the prevalence of signs indicative of SSc in a cohort of patients with morphoea. This is a prospective multi-centre study performed in four French academic dermatology departments: 76 patients with morphoea and 101 age- and sex-matched controls, who underwent complete clinical examination, were enrolled. A systemic search for signs indicative of SSc (e.g. Raynaud's phenomenon, reflux) was performed with the help of a standardised questionnaire. There were 58 women and 18 men (ration =3/1) with a median age of 59 years. Mean age at diagnosis was 54 years (extremes, 13-87). 49 subjects had plaque morphoea, 9 had generalised morphoea and 18 had linear morphoea. Mean duration of morphoea was 7.9 years. Signs possibly indicative of SSc were noted in four patients of the control group and in 8 patients with morphoea. This difference was not ...

Some of the most used techniques derive from the original technique of Gillies and Millard, who based their method on the excision of two triangles above the vermilion and advancing the mucosa to create the Cupid’s bow. Other later techniques, such as that of Onizuka et al., involve making a more curvaceous cut from the center of the vermilion to provide more emphasis to Cupid’s bow. Alternatively, repair may be accomplished using a bilateral vermilion flap and a triangular excision of skin from the base of each philtral column with which to create the new Cupid’s bow. Each vermilion flap is then sutured by planes to the opposite side. V-Y advancement flaps have also been used, and although these are easy to perform and involve minimal morbidity, their main disadvantage relates to the scars remaining on the skin of the upper lip. However, in the older age group, in whom this technique has greater applicability, this problem is less visible. Finally, small total skin grafts have also been used for reconstruction in this area. The technique described here was published by Paniker and Mellete. These authors established certain indications and recommendations in order to achieve optimal results. The first aspect to consider is the size of the lesion, as this technique cannot be used for all defects involving Cupid’s bow. It is not recommended if the resulting defect is greater than one-third the length of the philtrum or if it is situated further than one-third from the midline towards the commissure. In addition, it is recommended that the design is done before infiltration of anesthesia or with the use of minimally reactive suture material. We have presented a simple technique consisting of a variant of advancement mucosal flaps. The use of this advancement flap in certain selected patients achieves reconstruction of Cupid’s bow with acceptable cosmetic and functional results.

To compare the frequency of genital lichen sclerosus (LS) in patients with morphea with that of control patients. A prospective multicenter study. Four French academic dermatology departments: Strasbourg, Montpellier, Tenon Hospital Paris, and Henri Mondor Hospital Créteil. Patients were recruited from November 1, 2008, through June 30, 2010. Seventy-six patients with morphea and 101 age- and sex-matched controls, who underwent complete clinical examination, were enrolled. A complete clinical examination and, if deemed necessary, a cutaneous biopsy. The frequency of genital LS. There were 58 women and 18 men (a 3:1 ratio) with a median age of 59 years. Mean (range) age at diagnosis was 54 (13-87) years. Forty-nine patients had plaque morphea, 9 had generalized morphea, and 18 had linear morphea. Three patients (3%) in the control group and 29 patients (38%) with morphea had LS (odds ratio, 19.8; 95% CI, 5.7-106.9; P < .001). Twenty-two patients with plaque morphea (45%) and only ...

Many causes of what was formerly called Weber-Christian and Rothmann-Makai diseases are being clarified as specific forms of panniculitis. Among them, an autoimmune process involving the subcutaneous fat without criteria for another defined disorder coined "connective tissue panniculitis" by Winckelman et al in 1980 has been described. We describe this disease in a 4-year-old boy who presented with multiple subcutaneous inflammatory nodules that extended in an annular fashion, resolved leaving lipoatrophy, with recurrence 8 years later. The histologic findings were consistent with a granulomatous lipophagic panniculitis. We review previous reports and emphasize the limited therapeutic options, chronic evolution, severe esthetic sequelae and possible association with other autoimmune disorders of this uncommon condition.

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Children with multiple café-au-lait macules (CALMs) may be followed for years before a second National Institutes of Health clinical criterion of neurofibromatosis type 1 (NF1) develops to confirm the diagnosis. We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its association with neuro-ophthalmologic complications. This was a prospective multicenter case-control study of 210 consecutive patients with multiple CALMs. Patients with NF1 were matched for age, sex, and center with control subjects. We documented the number, location, and morphologic appearance of NA; dermatologic features of NF1; magnetic resonance imaging results; and family history. In all, 77 (51%) patients with NF1 had NA compared with 6 (2%) control subjects. NA was not detected in 26 patients with other genodermatoses associated with CALMs. Patients with NF1 and NA were younger than those without NA (median age: 17 years) (P = .002). NA was mostly localized to the upper anterior aspect of the chest. NA was not significantly linked with other clinical manifestations of NF1, including optic glioma and unidentified bright objects. A potential referral bias associated with tertiary care centers is a limitation. NA appears to have a high prevalence and specificity in NF1 and might serve as a marker for NF1 in children with multiple CALMs.