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Hôpital-Camfrout, France

Halachmi S.,Herzelia Skin and Laser Center | Ben Amitai D.,Pediatric Dermatology Unit | Ben Amitai D.,Tel Aviv University | Lapidoth M.,Laser Unit | Lapidoth M.,Tel Aviv University
Journal of Drugs in Dermatology | Year: 2013

Background: Acne scarring is a prevalent and challenging cosmetic issue, which is often addressed by multiple modalities. A low-viscosity non-animal stabilized hyaluronic acid (NASHA) dermal filler, injected in microdoses into the mid-to-superficial dermis, may provide a useful new approach to improving the appearance of depressed acne scars. Materials and Methods: Twelve consecutive patients with moderate to severe acne scarring, who had completed a series of fractional laser resurfacing, underwent microinjections of 20 mg/mL hyaluronic acid (HA) gel into discrete depressed acne scars on the face. Results: Immediate visual improvement was observed in all lesions. The procedure was well tolerated. Adverse events were limited to transient pinpoint bleeding at the injection site. Conclusion: Microinjection of low viscosity HA offers a valuable technique for the treatment of discrete depressed acne scars. Copyright © 2013 Journal of Drugs in Dermatology.

Blaydon D.C.,Queen Mary, University of London | Nitoiu D.,Queen Mary, University of London | Eckl K.-M.,University of Cologne | Cabral R.M.,Queen Mary, University of London | And 12 more authors.
American Journal of Human Genetics | Year: 2011

Autosomal-recessive exfoliative ichthyosis presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of nonerythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis. We found two homozygous mutations, a splice-site and a nonsense mutation, in two consanguineous families of Bedouin and Turkish origin. Electron microscopy of skin biopsies from affected individuals revealed that the level of detachment occurs in the basal and lower suprabasal layers. In addition, in vitro modeling suggests that in the absence of cystatin A protein, there is a cell-cell adhesion defect in human keratinocytes that is particularly prominent when cells are subject to mechanical stress. We show here evidence of a key role for a protease inhibitor in epidermal adhesion within the lower layers of the human epidermis. © 2011 The American Society of Human Genetics.

Al-Herz W.,Allergy and Clinical Immunology Unit | Nanda A.,Pediatric Dermatology Unit
Pediatric Dermatology | Year: 2011

Skin manifestations are prevalent in primary immunodeficiency disorders (PID). In a large proportion of patients, they manifest as presenting signs and serve as important factors for the early diagnosis of PID. Only a few studies describing the spectrum of skin disorders in PID are available. The objective of the current study was to determine the prevalence and characteristics of skin manifestations in children with PID. Participants were 128 pediatric patients with PID (aged <16 years) registered prospectively over 6 years. Skin manifestations were observed in 61 patients (48%), and those manifestations were the presenting features in 50 (39% of total PID and 82% of those with skin lesions). Skin infections were the most prevalent manifestations, seen in 39 patients (30%), followed by eczemas in 24 (19%). Skin infections were significantly more prevalent in those with congenital defects in phagocyte number, function, or both, as well as in those with well-defined immunodeficiencies. Although widely present in all participants with PID, eczema was a consistent feature (100%) in patients with hyper IgE syndrome and Wiskott-Aldrich syndrome (WAS). Erythroderma of infancy with diffuse alopecia was seen exclusively in patients with severe combined immunodeficiency disorders, telangiectasia in patients with ataxia telangiectasia, and partial albinism with silvery gray hair in those with Chediak-Higashi syndrome. Autoimmune skin manifestations were observed in 6% of reported cases of PID. This study highlights the importance of awareness of skin manifestations of PID to assist in the early diagnosis and management of these disorders. © 2011 Wiley Periodicals, Inc.

Choi J.-S.,Yale University | Boralevi F.,Pediatric Dermatology Unit | Brissaud O.,Paediatric Care Unit | Sanchez-Martin J.,University of Oviedo | And 4 more authors.
Nature Reviews Neurology | Year: 2011

Background A 3-month-old male infant presented, beginning on the second day of life, with paroxysmal painful events that started with tonic contraction of the whole body followed by erythematous harlequin-type color changes.Investigations Screening of the SCN9A gene, which encodes the voltage-gated sodium channel Na V 1.7, identified a new mutation, Gly1607Arg, located within the domain IV S4 voltage sensor. Whole-cell patch-clamp analysis demonstrated functional effects of the mutant channel that included impaired inactivationg-a hallmark of paroxysmal extreme pain disorder (PEPD).Diagnosis The patient was diagnosed as having PEPD, an autosomal dominant disorder characterized by severe rectal pain triggered by defecation or perineal stimulation, usually followed by ocular or submaxillary pain. Erythematous flushing, sometimes in a harlequin pattern, can be a prominent feature of this condition.Management Treatment with carbamazepine (10 mg/kg/day) for g-3 months was ineffective in this case, and the parents made a decision to discontinue the drug. The mother was instructed to avoid painful stimuli that could trigger an episode. © 2011 Macmillan Publishers Limited. All rights reserved.

Defrin R.,Tel Aviv University | Lurie R.,Pediatric Dermatology Unit
Clinical Journal of Pain | Year: 2013

OBJECTIVES: The underlying mechanism of trichodynia (scalp/hair pain, is unknown). The aim of this study was to characterize chronic trichodynia and to conduct, for the first time, sensory testing in patients with trichodynia to learn about possible underlying mechanisms. METHODS: Participants were 16 trichodynia patients and 19 healthy controls. Participants underwent testing of touch and pressure-pain threshold as well as allodynia in painful and pain-free scalp sites and in the hands (intact remote region). A trichogram (hair test) was conducted on painful and pain-free scalp sites to evaluate hair cycle abnormalities. The chronic pain was characterized as well. RESULTS: Painful sites were characterized by decreased thresholds for light touch (P<0.01) and pressure pain (P<0.01) and high rates of static allodynia (94%) compared with adjacent pain-free sites and controls. A significant negative correlation was found between chronic pain intensity and scalp thresholds. Spontaneous and evoked pain existed only in scalp sites with hair cycle abnormalities. In addition, pressure-pain threshold in the hands was significantly lower in trichodynia patients compared with controls. DISCUSSION: The cranial hyperalgesia and allodynia, the generalized hyperalgesia, and the correlation between hyperalgesia and chronic pain suggest that trichodynia is related with both peripheral and central sensitization, respectively. The coexistence of hair cycle abnormalities and chronic pain might suggest a common denominator for both phenomena, possibly mediated by proinflammatory agents. Clinical implications are discussed. Copyright © 2012 by Lippincott Williams & Wilkins.

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