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Publications récentes sur les génodermatoses

Ichtyoses


A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.
Simkin D et al.

Simkin D et al.
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.
Dermatol. Online J.. 2018 Jan 15, 24, (1).


Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional (...)

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Lamellar ichthyosis in a female neonate without a collodion membrane.
Chao K et al.

Chao K et al.
Lamellar ichthyosis in a female neonate without a collodion membrane.
Dermatol. Online J.. 2018 Feb 15, 24, (2).


The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. We report a premature female neonate presenting with (...)

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Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.
Vodo D et al.

Vodo D et al.
Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.
Clin. Exp. Dermatol.. 2018 Mar , 43, (2):187-190.


Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing (...)

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Epidermolyse Bulleuse héréditaire


Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand.
Kim M et al.

Kim M et al.
Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand.
Acta Derm. Venereol.. 2018 Jan 12, 98, (1):70-76.


We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with a mean of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC (...)

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Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
Mellado F et al.

Mellado F et al.
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
Cornea. 2018 Apr , 37, (4):442-447.


This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations.

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A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa.
Zhang H et al.

Zhang H et al.
A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa.
PLoS Comput. Biol.. 2018 04 , 14, (4):e1006053.


Single-cell RNA sequencing (scRNA-seq) has been widely applied to discover new cell types by detecting sub-populations in a heterogeneous group of cells. Since scRNA-seq experiments have lower read coverage/tag counts and introduce more technical biases compared to bulk RNA-seq experiments, the limited number of sampled cells combined with the experimental biases and other dataset specific variations presents a challenge to cross-dataset analysis and discovery of relevant biological (...)

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Xeroderma Pigmentosum


Dramatic response to nivolumab in xeroderma pigmentosum skin tumor.
Chambon F et al.

Chambon F et al.
Dramatic response to nivolumab in xeroderma pigmentosum skin tumor.
Pediatr Blood Cancer. 2018 Feb , 65, (2).


We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. We observed a dramatic tumor response with excellent tolerance. However, while on nivolumab therapy she (...)

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Xeroderma Pigmentosum - Facts and Perspectives.
Lehmann J et al.

Lehmann J et al.
Xeroderma Pigmentosum - Facts and Perspectives.
Anticancer Res.. 2018 02 , 38, (2):1159-1164.


Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. XP belongs to the group of DNA repair (...)

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Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development.
Sears CR et al.

Sears CR et al.
Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development.
Am. J. Respir. Cell Mol. Biol.. 2018 03 , 58, (3):402-411.


Cigarette smoke (CS) exposure is a major risk factor for the development of emphysema, a common disease characterized by loss of cells comprising the lung parenchyma. The mechanisms of cell injury leading to emphysema are not completely understood but are thought to involve persistent cytotoxic or mutagenic DNA damage induced by CS. Using complementary cell culture and mouse models of CS exposure, we investigated the role of the DNA repair protein, xeroderma pigmentosum group C (XPC), on (...)

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Kératodermies palmo-plantaires


Tissue-specific role of RHBDF2 in cutaneous wound healing and hyperproliferative skin disease.
Hosur V et al.

Hosur V et al.
Tissue-specific role of RHBDF2 in cutaneous wound healing and hyperproliferative skin disease.
BMC Res Notes. 2017 Nov 07, 10, (1):573.


Gain-of-function (GOF) mutations in RHBDF2 cause tylosis. Patients present with hyperproliferative skin, and keratinocytes from tylosis patients' skin show an enhanced wound-healing phenotype. The curly bare mouse model of tylosis, carrying a GOF mutation in the Rhbdf2 gene (Rhbdf2 ), presents with epidermal hyperplasia and shows accelerated cutaneous wound-healing phenotype through enhanced secretion of the epidermal growth factor receptor family ligand amphiregulin. Despite these (...)

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Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.
Mohite AA et al.

Mohite AA et al.
Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.
Indian J Ophthalmol. 2018 Mar , 66, (3):449.

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NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
Rapaport D et al.

Rapaport D et al.
NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
Biochem. Biophys. Res. Commun.. 2018 03 04, 497, (2):605-611.


Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus (...)

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Neurofibromatoses


Neurofibromatosis type 1 and disseminated malignant peripheral nerve sheath tumor.
Pannu AK et al.

Pannu AK et al.
Neurofibromatosis type 1 and disseminated malignant peripheral nerve sheath tumor.
QJM. 2017 Sep 01, 110, (9):583-584.

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The absence that makes the difference: choroidal abnormalities in Legius syndrome.
Tucci A et al.

Tucci A et al.
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
J. Hum. Genet.. 2017 Nov , 62, (11):1001-1004.


Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities (...)

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Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient.
Serafini NB et al.

Serafini NB et al.
Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient.
An Bras Dermatol. , 92, (6):870-873.


Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, (...)

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Dysplasie Ectodermique


Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction.
Bassi A et al.

Bassi A et al.
Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction.
Arch. Dis. Child. Fetal Neonatal Ed.. 2018 May , 103, (3):F270.

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Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.
Ma M et al.

Ma M et al.
Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.
World Neurosurg. 2018 Jun , 114:76-83.


To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients to help improve diagnosis and treatment of this disease, we present a rare case of an adult patient suffering from NCM with malignant melanoma, as well as a review of the relevant Chinese and English literature.

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OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA.
Çalişkan S et al.

Çalişkan S et al.
OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA.
Retin Cases Brief Rep. , 12, (3):219-223.


Ectodermal dysplasia (ED) results from abnormal development of the ectodermal layer. Although coexistence of ED and retinal pathology has been described, concomitance with retinal venous tortuosity has not been reported in the literature.

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Cutis laxa


Mutations in the X-linked cause a glycosylation disorder with autophagic defects.
Rujano MA et al.

Rujano MA et al.
Mutations in the X-linked cause a glycosylation disorder with autophagic defects.
J. Exp. Med.. 2017 Dec 04, 214, (12):3707-3729.


The biogenesis of the multi-subunit vacuolar-type H-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show (...)

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The Histopathological Findings of Patients Who Underwent Blepharoplasty Due to Dermatochalasis.
Karnaz A et al.

Karnaz A et al.
The Histopathological Findings of Patients Who Underwent Blepharoplasty Due to Dermatochalasis.
Semin Ophthalmol. 2018 , 33, (3):407-411.


To assess changes in lymphatic vessels, collagen, and elastic fiber structure in excised tissues with dermatochalasis (DC).

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[Clinical and genetic analysis of a patient with cutis laxa].
Zhang P et al.

Zhang P et al.
[Clinical and genetic analysis of a patient with cutis laxa].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10, 35, (1):100-103.


OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the (...)

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Ehlers-Danlos


Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
Gu G et al.

Gu G et al.
Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
Vasc Endovascular Surg. 2018 Feb , 52, (2):138-142.


Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to (...)

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Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Zoppi N et al.

Zoppi N et al.
Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Biochim. Biophys. Acta. 2018 04 , 1864, (4 Pt A):1010-1023.


Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications, and minor skin changes. The phenotypic spectrum is broad and includes multiple associated symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or (...)

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The prevalence of generalized and syndromic hypermobility in elite Australian dancers.
Chan C et al.

Chan C et al.
The prevalence of generalized and syndromic hypermobility in elite Australian dancers.
Phys Ther Sport. 2018 Jul , 32:15-21.


To determine the prevalence of Generalized Joint Hypermobility (GJH) and Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT) among dancers using established validated measures.

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Syndromes de prolifération tissulaire et mosaïcisme


Epidermal nevus syndromes: New insights into whorls and swirls.
Asch S et al.

Asch S et al.
Epidermal nevus syndromes: New insights into whorls and swirls.
Pediatr Dermatol. 2018 Jan , 35, (1):21-29.


Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, (...)

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Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
Myers KA et al.

Myers KA et al.
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
Am. J. Med. Genet. A. 2018 Jan , 176, (1):230-234.


Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl (...)

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A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
van den Akker PC et al.

van den Akker PC et al.
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
PLoS ONE. 2018 , 13, (2):e0192994.


Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. We therefore (...)

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Incontinentia Pigmenti


Newborn With a Rash.
Cully M et al.

Cully M et al.
Newborn With a Rash.
Ann Emerg Med. 2017 Nov , 70, (5):746-755.

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Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E et al.

Bal E et al.
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
J. Allergy Clin. Immunol.. 2017 Dec , 140, (6):1671-1682.e2.


Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nuclear factor κB (NF-κB) essential modulator (NEMO; the regulatory subunit of the IκB kinase [IKK] complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling. Here we describe a new IKBKG mutation responsible for IP resulting in an inactive truncated form (...)

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Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti?
Bhoyrul B et al.

Bhoyrul B et al.
Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti?
Dermatol Surg. 2017 Dec , 43, (12):1501-1503.

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