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Publications récentes sur les génodermatoses

Ichtyoses


Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.
Moss C et al.

Moss C et al.
Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.
Br J Dermatol. 2023 Jan 23, 188, (1):139-140.

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ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
Meyer JM et al.

Meyer JM et al.
ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
J Invest Dermatol. 2023 Feb , 143, (2):332-335.e4.

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Current "state of the art" on dendritic cell-based cancer vaccines in melanoma.
Schwarze JK et al.

Schwarze JK et al.
Current "state of the art" on dendritic cell-based cancer vaccines in melanoma.
Curr Opin Oncol. 2023 Mar 01, 35, (2):87-93.


Dendritic cells (DCs) are the gatekeepers of our immune system and indispensable in the antitumor immune response. In recent years, their classification has been revised considerably using single-cell sequencing approaches. In this review, we focus on their unique role in cancer and how specific DC subsets can be manipulated to induce an effective and durable antitumor response.

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Epidermolyse Bulleuse héréditaire


Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.
Kaneyasu H et al.

Kaneyasu H et al.
Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.
J Dermatol. 2023 Feb , 50, (2):239-244.


Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by the blistering of the skin and mucous membranes. Although the molecular basis of EB has been significantly elucidated, the precise phenotypes of the lethal types of EB have not been completely characterized. Herein, we report a severe case of EB with pyloric atresia (PA). The patient was a Japanese boy who not only had skin lesions but also various complications such as PA, dysphagia, hypotonia, (...)

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Epidemiology of inherited epidermolysis bullosa in Germany.
Has C et al.

Has C et al.
Epidemiology of inherited epidermolysis bullosa in Germany.
J Eur Acad Dermatol Venereol. 2023 Feb , 37, (2):402-410.


Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.

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Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.

Chen F et al.
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
J Eur Acad Dermatol Venereol. 2023 Feb , 37, (2):411-419.


Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders.

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Xeroderma Pigmentosum


A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.
OuYang X et al.

OuYang X et al.
A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.
Clin Exp Dermatol. 2022 Nov , 47, (11):2069-2071.


We report a Chinese consanguineous family with a variant type of xeroderma pigmentosum (XPV), and identified one novel mutation in the patient. Our study expands the mutational spectrum of XPV. Click here for the corresponding questions to this CME article.

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TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M et al.

Lanzafame M et al.
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Hum Mutat. 2022 Dec , 43, (12):2222-2233.


Trichothiodystrophy (TTD) is a rare hereditary disease whose prominent feature is brittle hair. Additional clinical signs are physical and neurodevelopmental abnormalities and in about half of the cases hypersensitivity to UV radiation. The photosensitive form of TTD (PS-TTD) is most commonly caused by mutations in the ERCC2/XPD gene encoding a subunit of the transcription/DNA repair complex TFIIH. Here we report novel ERCC2/XPD mutations affecting proper protein folding, which generate (...)

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Peripheral neuropathies associated with DNA repair disorders.
Maguina M et al.

Maguina M et al.
Peripheral neuropathies associated with DNA repair disorders.
Muscle Nerve. 2023 Feb , 67, (2):101-110.


Repair of genomic DNA is a fundamental housekeeping process that quietly maintains the health of our genomes. The consequences of a genetic defect affecting a component of this delicate mechanism are quite harmful, characterized by a cascade of premature aging that injures a variety of organs, including the nervous system. One part of the nervous system that is impaired in certain DNA repair disorders is the peripheral nerve. Chronic motor, sensory, and sensorimotor polyneuropathies have (...)

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Kératodermies palmo-plantaires


Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.
Smeele PH et al.

Smeele PH et al.
Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.
Semin Cell Dev Biol. 2023 Jan 15, 133:42-52.


Membrane trafficking is a core cellular process that supports diversification of cell shapes and behaviors relevant to morphogenesis during development and in adult organisms. However, how precisely trafficking components regulate specific differentiation programs is incompletely understood. Snap29 is a multifaceted Soluble N-ethylmaleimide-sensitive factor Attachment protein Receptor, involved in a wide range of trafficking and non-trafficking processes in most cells. A body of knowledge, (...)

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EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib.
Basset J et al.

Basset J et al.
EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib.
J Invest Dermatol. 2023 Feb , 143, (2):294-304.e8.


Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by painful palmoplantar keratoderma for which there is no standard current treatment. PC is caused by dominant mutations in keratin (K) K6A, K6B, K6C, K16, or K17 genes involved in stress, wound healing, and epidermal barrier formation. Mechanisms leading to pain and painful palmoplantar keratoderma in PC remain elusive. In this study, we show overexpression of EGFR ligands epiregulin and TGF-α as well as HER1‒EGFR and (...)

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Inhibiting EGFR Signaling Holds Promise for Treating Palmoplantar Keratodermas.
Coulombe PA et al.

Coulombe PA et al.
Inhibiting EGFR Signaling Holds Promise for Treating Palmoplantar Keratodermas.
J Invest Dermatol. 2023 Feb , 143, (2):185-188.

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Neurofibromatoses


A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
Chillura I et al.

Chillura I et al.
A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
Ital J Pediatr. 2022 Nov 21, 48, (1):186.


Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal (...)

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A fortuitous discovery of a neurofibroma in a female patient with type 1 neurofibromatosis: a case report.
Harrabi F et al.

Harrabi F et al.
A fortuitous discovery of a neurofibroma in a female patient with type 1 neurofibromatosis: a case report.
J Int Med Res. 2022 Dec , 50, (12):3000605221139716.


Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with an autosomal dominant pattern of inheritance. This congenital disease is characterized by a wide spectrum of clinical manifestations and degree of severity. This case report describes a female patient in her early 20s who presented with a complaint of lumbosciatica-like pain evolving for several months. The condition initially escaped the attention of clinicians until a lumbar computed tomography scan and spinal magnetic (...)

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Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1.
Yang L et al.

Yang L et al.
Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1.
Mol Biol Rep. 2023 Feb , 50, (2):1117-1123.


Neurofibromatosis type 1 (NF1) is an autosomal dominant with haploinsufficient, and multisystemic disorder including patches of skin Café-au-lait spots, Lisch nodules in the iris, and tumors in the peripheral nervous systems or fibromatous skin.

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Dysplasie Ectodermique


Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Alghaith FA et al.

Alghaith FA et al.
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Am J Med Genet A. 2023 Feb , 191, (2):554-558.


Congenital heart defect (CHD) is a birth defect that affects the structure of the heart. Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is caused by de novo variants in PRKD1. Here, we describe a patient with a novel de novo variant of PRKD1 with phenotypic features consistent with CHDED. Previously unreported features were noted including high intracranial (...)

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Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.
Lena F et al.

Lena F et al.
Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.
Eur J Pediatr Surg. 2023 Feb , 33, (1):85-89.


 Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting-in lethal variant-in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the (...)

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Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.
Shak C et al.

Shak C et al.
Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.
J Cell Sci. 2023 Mar 01, 136, (5).


The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium result in ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal dysplasias. The motor proteins dynein-2 and kinesin-2 mediate retrograde and anterograde transport, respectively, in the cilium. WDR34 (also known as (...)

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Cutis laxa


First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Ravel JM et al.

Ravel JM et al.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Am J Med Genet A. 2022 Nov , 188, (11):3343-3349.


Cutis laxa (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta-binding protein 4 gene (LTBP4) cause autosomal recessive type 1C cutis laxa (ARCL1C, MIM #613177). The present report describes the case of a 17-months-old girl with cutis laxa together with a literature review of previous ARCL1C cases. Based on proband main clinical signs (...)

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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS et al.

Adamo CS et al.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet. 2022 Dec 01, 109, (12):2230-2252.


EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis (...)

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Acquired cutis laxa from heavy chain deposition disease.
Gillion V et al.

Gillion V et al.
Acquired cutis laxa from heavy chain deposition disease.
Kidney Int. 2022 Dec , 102, (6):1432-1433.

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Ehlers-Danlos


Pelvic floor symptoms in cisgender women with Ehlers-Danlos syndrome: an international survey study.
Kciuk O et al.

Kciuk O et al.
Pelvic floor symptoms in cisgender women with Ehlers-Danlos syndrome: an international survey study.
Int Urogynecol J. 2023 Feb , 34, (2):473-483.


Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders associated with abnormal collagen, and is more prevalent in women than in men. The aim of this cross-sectional study was to characterize pelvic floor symptoms in cisgender women with EDS and to describe their impact on quality of life.

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The concomitant diagnosis of fibromyalgia and connective tissue disorders: A systematic review.
Alsiri N et al.

Alsiri N et al.
The concomitant diagnosis of fibromyalgia and connective tissue disorders: A systematic review.
Semin Arthritis Rheum. 2023 Feb , 58:152127.


Anecdotally, fibromyalgia syndrome (FMS) and connective tissue disorders (hypermobile Ehlers-Danlos Syndrome (hEDS), Hypermobility Spectrum disorders (HSD) and Generalized Joint Hypermobility (GJH)) manifest overlap in their diagnostic approach and symptomatic features. Understanding this overlap is important for accurate diagnosis and the success of subsequent management. This study therefore aimed to identify the prevalence of concomitant diagnosis of FMS and hEDS/HSD/GJH in adults and (...)

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Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.
Shabani M et al.

Shabani M et al.
Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.
Clin Genet. 2023 Mar , 103, (3):261-267.


Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022. Studies providing a report of any EDS subtype by genetic diagnosis, histologic analysis, or clinical criteria were included. A total of 448 patients from 220 studies were included. 720 vessel-specific aneurysms were (...)

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Syndromes de prolifération tissulaire et mosaïcisme


Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.
Thorpe J et al.

Thorpe J et al.
Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.
J Invest Dermatol. 2021 Mar , 141, (3):685-688.

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A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
Cai ZR et al.

Cai ZR et al.
A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
Pediatr Dermatol. 2022 Mar , 39, (2):281-287.


RHOA-related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation with a similar phenotype due to a novel postzygotic RHOA variant (c.210G>T; p.Arg70Ser). This illustrates that the complexity of the orchestration of morphogenesis and organogenesis can be affected (...)

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Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Martinez-Falero BS et al.

Martinez-Falero BS et al.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clin Exp Dermatol. 2022 Dec , 47, (12):2342-2345.


A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-coloured papules on the left palm. Ophthalmoscopy revealed hypopigmented spots in the macular region of the retina in each eye due to focal areas of depigmentation of the retinal pigment epithelium. An array comparative genomic hybridization on DNA (...)

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Incontinentia Pigmenti


Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Martinez-Falero BS et al.

Martinez-Falero BS et al.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clin Exp Dermatol. 2022 Dec , 47, (12):2342-2345.


A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-coloured papules on the left palm. Ophthalmoscopy revealed hypopigmented spots in the macular region of the retina in each eye due to focal areas of depigmentation of the retinal pigment epithelium. An array comparative genomic hybridization on DNA (...)

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Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception.
Han IC.

Han IC.
Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception.
Ophthalmol Retina. 2022 Dec , 6, (12):1111-1112.

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Is Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases.
Vezzaro V et al.

Vezzaro V et al.
Is Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases.
Actas Dermosifiliogr. 2022 Dec , 113 Suppl 1:S10-S12.

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