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Publications récentes sur les génodermatoses

Ichtyoses


Cathelicidin represents a new target for manipulation of skin inflammation in Netherton syndrome.
Zingkou E et al.

Zingkou E et al.
Cathelicidin represents a new target for manipulation of skin inflammation in Netherton syndrome.
Biochim Biophys Acta Mol Basis Dis. 2020 10 01, 1866, (10):165831.


Netherton syndrome (NS) is a severe ichthyosis caused by inactivating mutations in the SPINK5 gene encoding the serine protease inhibitor LEKTI. Spink5 mice recapitulate NS and die perinatally from extensive dehydration as a result of a severe defect of the epidermal barrier. We showed that deletion of Klk5 in Spink5 rescues neonatal lethality (Furio et al., 2015). However, Spink5Klk5 mice developed skin shedding and inflammation during the first week from birth and the majority (70%) (...)

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A novel ABCA12 frameshift mutation segregates with ichthyosis fetalis in a Polled Hereford calf.
Eager KLM et al.

Eager KLM et al.
A novel ABCA12 frameshift mutation segregates with ichthyosis fetalis in a Polled Hereford calf.
Anim Genet. 2020 Oct , 51, (5):837-838.

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[Analysis of PNPLA1 gene mutation in a child with ichthyosis].
Li H et al.

Li H et al.
[Analysis of PNPLA1 gene mutation in a child with ichthyosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10, 37, (10):1136-1138.


To explore the genetic basis for a child with ichthyosis.

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Epidermolyse Bulleuse héréditaire


Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S et al.

Krämer S et al.
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Spec Care Dentist. 2020 Nov , 40 Suppl 1:3-81.


Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features.

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.

Singh K et al.
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
BMC Med Genet. 2020 11 02, 21, (1):216.


To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

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Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
Chong SC et al.

Chong SC et al.
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
J Dermatolog Treat. 2021 Feb , 32, (1):29-32.


Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (...)

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Xeroderma Pigmentosum


Progressive length-dependent polyneuropathy in xeroderma pigmentosum group A.
Tsuji Y et al.

Tsuji Y et al.
Progressive length-dependent polyneuropathy in xeroderma pigmentosum group A.
Muscle Nerve. 2020 10 , 62, (4):534-540.


In this study, we aimed to investigate the progression of peripheral nervous system involvement in xeroderma pigmentosum group A (XP-A).

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XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.
Yurchenko AA et al.

Yurchenko AA et al.
XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.
Nat Commun. 2020 11 17, 11, (1):5834.


Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). The genetic mechanisms of non-skin cancers in XP-C patients remain unexplored. In this study, we analyze a unique collection of internal XP-C tumor genomes including 6 leukemias and 2 sarcomas. We observe a specific mutational pattern and an average (...)

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The involvement of nucleotide excision repair proteins in the removal of oxidative DNA damage.
Kumar N et al.

Kumar N et al.
The involvement of nucleotide excision repair proteins in the removal of oxidative DNA damage.
Nucleic Acids Res. 2020 11 18, 48, (20):11227-11243.


The six major mammalian DNA repair pathways were discovered as independent processes, each dedicated to remove specific types of lesions, but the past two decades have brought into focus the significant interplay between these pathways. In particular, several studies have demonstrated that certain proteins of the nucleotide excision repair (NER) and base excision repair (BER) pathways work in a cooperative manner in the removal of oxidative lesions. This review focuses on recent data (...)

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Kératodermies palmo-plantaires


AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Klee KMC et al.

Klee KMC et al.
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Hum Genet. 2020 Oct , 139, (10):1247-1259.


Congenital diarrheal disorders (CDD) comprise > 50 monogenic entities featuring chronic diarrhea of early-onset, including defects in nutrient and electrolyte absorption, enterocyte polarization, enteroendocrine cell differentiation, and epithelial integrity. Diarrhea is also a predominant symptom in many immunodeficiencies, congenital disorders of glycosylation, and in some defects of the vesicular sorting and transporting machinery. We set out to identify the etiology of an intractable (...)

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Naxos disease - a narrative review.
Leopoulou M et al.

Leopoulou M et al.
Naxos disease - a narrative review.
Expert Rev Cardiovasc Ther. 2020 Nov , 18, (11):801-808.


Naxos disease is a rare entity that manifests with woolly hair, keratosis of extremities, and cardiac manifestations that resemble arrhythmogenic right ventricular cardiomyopathy. It is inherited in an autosomal recessive pattern and mutations affecting plakoglobin and desmoplakin have been identified. There is an increased risk of arrhythmias, including sudden cardiac death at a young age. Right ventricular systolic dysfunction often progresses and left ventricular involvement may also (...)

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Palmar Rash in a Young Child.
Kim E et al.

Kim E et al.
Palmar Rash in a Young Child.
Am Fam Physician. 2020 11 01, 102, (9):565-566.

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Neurofibromatoses


[Genetic analysis of a child with global developmental delay and neurofibromatosis type 1].
Zhang X et al.

Zhang X et al.
[Genetic analysis of a child with global developmental delay and neurofibromatosis type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10, 37, (8):851-854.


To explore the genetic basis for a child with global developmental delay and neurofibromatosis type 1 (NF1).

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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
Santoro C et al.

Santoro C et al.
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
BMC Neurol. 2020 Sep 01, 20, (1):327.


Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson's disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases, usually due to paternal gonadal mutations. This case report describes clinical and genetic findings in a boy with the occurrence of two distinct causative mutations in NF1 and RAB39B explaining the observed (...)

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Skin lesions indicate cause of acute gastrointestinal bleeding: neurofibromatosis type 1.
Özpolat HT et al.

Özpolat HT et al.
Skin lesions indicate cause of acute gastrointestinal bleeding: neurofibromatosis type 1.
Lancet. 2020 09 26, 396, (10255):e52.

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Dysplasie Ectodermique


[Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia].
Duan F et al.

Duan F et al.
[Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Nov 10, 37, (11):1269-1271.


To detect variant of EDA gene in a fetus with absence of germ teeth detected by prenatal ultrasonography.

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[Phacomatosis or retinal astrocytic hamartomas].
Ducos de Lahitte G.

Ducos de Lahitte G.
[Phacomatosis or retinal astrocytic hamartomas].
J Fr Ophtalmol. 2020 Dec , 43, (10):1096-1097.

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The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.
Happle R.

Happle R.
The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.
Am J Med Genet A. 2021 01 , 185, (1):13-14.

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Cutis laxa


The Earliest Illustration of Cutis Laxa Macroscopic Pattern in Jan van Eyck's Lucca Madonna.
Moldavsky M.

Moldavsky M.
The Earliest Illustration of Cutis Laxa Macroscopic Pattern in Jan van Eyck's Lucca Madonna.
Isr Med Assoc J. 2020 02 , 22, (2):127-129.

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RIN2 and BBS7 variants as cause of a coincidental syndrome.
Shaukat M et al.

Shaukat M et al.
RIN2 and BBS7 variants as cause of a coincidental syndrome.
Eur J Med Genet. 2020 Mar , 63, (3):103755.


BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. We investigated a consanguineous family in which five individuals manifested different phenotypes. Whole-exome sequencing analyses of the individual with multiple phenotypes revealed homozygosity for novel pathogenic variants in his DNA sample; a frameshift variant in RIN2 (c.1938delT) and a splice-site variant in BBS7 (c.1677-1G > A). Other affected individuals were homozygous for a variant in only one of (...)

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Skin wrinkling of the upper arms: a case of mid-dermal elastolysis.
Hoang N et al.

Hoang N et al.
Skin wrinkling of the upper arms: a case of mid-dermal elastolysis.
Dermatol Online J. 2020 Apr 15, 26, (4).


Mid-dermal elastolysis is a rare acquired elastic tissue disorder with about 100 cases reported in the literature. It is characterized by localized patches of finely wrinkled skin on the shoulder and upper extremities and a band-like loss of elastic tissue in the mid-dermal layer on biopsy. Some patients may have symptoms of discomfort, erythema, and/or pruritis. Mid-dermal elastolysis is predominantly seen in young to middle-aged Caucasian females and extensive skin involvement may lead to (...)

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Ehlers-Danlos


Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome.
Jayarajan SN et al.

Jayarajan SN et al.
Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome.
Vascular. 2020 Dec , 28, (6):834-841.


Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking.

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Cosegregation of postural orthostatic tachycardia syndrome, hypermobile Ehlers-Danlos syndrome, and mast cell activation syndrome.
Vadas P et al.

Vadas P et al.
Cosegregation of postural orthostatic tachycardia syndrome, hypermobile Ehlers-Danlos syndrome, and mast cell activation syndrome.
Ann Allergy Asthma Immunol. 2020 12 , 125, (6):719-720.

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The key role of the dental practitioner in early diagnosis of periodontal Ehlers-Danlos syndromes: a rare case report of siblings.
Cortés-Bretón Brinkmann J et al.

Cortés-Bretón Brinkmann J et al.
The key role of the dental practitioner in early diagnosis of periodontal Ehlers-Danlos syndromes: a rare case report of siblings.
Quintessence Int. 2021 , 52, (2):166-174.


Ehlers-Danlos syndromes (EDS) are a group of diverse hereditary connective tissue disorders. Various EDS subtypes present as different diseases. Periodontitis of early onset is a major criterion of periodontal EDS (pEDS). This article reports the clinical case of two siblings, young adults, who came to the clinic for diagnosis and treatment of periodontal disease. The patients had already been diagnosed with pEDS several months earlier after being referred for genetic testing by a (...)

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Syndromes de prolifération tissulaire et mosaïcisme


Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Meerschaut I et al.

Meerschaut I et al.
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Am J Med Genet A. 2019 12 , 179, (12):2494-2499.


Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored a de novo heterozygous gain-of-function mutation in SMAD4, encoding the SMAD4 transducer protein required for both transforming growth factor-beta and bone morphogenic proteins signaling. We report on (...)

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Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma.
Nomura T.

Nomura T.
Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma.
J Dermatol Sci. 2020 Feb , 97, (2):94-100.


Revertant mosaicism refers to a condition in which a pathogenic germline mutation is spontaneously corrected in somatic cells, resulting in the presence of two or more cell populations with different genotypes in an organism arising from a single fertilized egg. If the revertant cells are clonally expanded due to a survival advantage over the surrounding mutant cells, patients benefit from this self-healing phenomenon which leads to the development of milder-than-expected clinical (...)

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GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G Mosaicism and the Associated Clinical Diagnoses.
Polubothu S et al.

Polubothu S et al.
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G Mosaicism and the Associated Clinical Diagnoses.
J Invest Dermatol. 2020 05 , 140, (5):1110-1113.

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Incontinentia Pigmenti


Spreading Vesicles in a Neonate.
Glade DC et al.

Glade DC et al.
Spreading Vesicles in a Neonate.
J Pediatr. 2020 04 , 219:274-275.

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Hypomorphic mutation of IKBKG in a male patient with incontinentia pigmenti.
Niki M et al.

Niki M et al.
Hypomorphic mutation of IKBKG in a male patient with incontinentia pigmenti.
J Dermatol. 2020 Apr , 47, (4):e113-e114.

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Incontinentia Pigmenti: Homozygous twins with asymmetric ocular involvement.
Dubois P et al.

Dubois P et al.
Incontinentia Pigmenti: Homozygous twins with asymmetric ocular involvement.
J Fr Ophtalmol. 2020 Oct , 43, (8):e289-e292.

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