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Publications récentes sur les génodermatoses

Ichtyoses


Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis).
Wren GH et al.

Wren GH et al.
Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis).
Genes Brain Behav. 2024 Jun , 23, (3):e12893.


Steroid sulphatase (STS) cleaves sulphate groups from steroid hormones, and steroid (sulphate) levels correlate with mood and age-related cognitive decline. In animals, STS inhibition or deletion of the associated gene, enhances memory/neuroprotection and alters hippocampal neurochemistry. Little is known about the consequences of constitutive STS deficiency on memory-related processes in humans. We investigated self-reported memory performance (Multifactorial Memory Questionnaire), (...)

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Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.

Zhang J et al.
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Mol Med Rep. 2024 Jul , 30, (1).


Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome (...)

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Managing dry skin in patients with comorbidities or with advanced age: unmet needs and roles for products containing potential emollient-plus ingredients.
Augustin M et al.

Augustin M et al.
Managing dry skin in patients with comorbidities or with advanced age: unmet needs and roles for products containing potential emollient-plus ingredients.
J Dermatolog Treat. 2024 Dec , 35, (1):2326171.


In dry skin (DS), skin-barrier function is easily disturbed and moisturizing factors in the stratum corneum are reduced. Despite being a common condition, DS is often overlooked in patients with advanced age or comorbid diseases. In September 2022, specialists in dermatology and skin care met to discuss unmet needs and management of patients with DS with existing medical conditions or DS induced by ongoing pharmacological treatments. There was consensus about the need to improve the current (...)

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Epidermolyse Bulleuse héréditaire


Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
Stone W et al.

Stone W et al.
Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
PLoS One. 2024 , 19, (5):e0302991.


Recessive dystrophic epidermolysis bullosa is a rare genodermatosis caused by a mutation of the Col7a1 gene. The Col7a1 gene codes for collagen type VII protein, a major component of anchoring fibrils. Mutations of the Col7a1 gene can cause aberrant collagen type VII formation, causing an associated lack or absence of anchoring fibrils. This presents clinically as chronic blistering, scarring, and fibrosis, often leading to the development of cutaneous squamous cell carcinoma. Patients also (...)

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Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases.
Hwang A et al.

Hwang A et al.
Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases.
Orphanet J Rare Dis. 2024 May 21, 19, (1):206.


Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have primarily been described in case reports. Systematic studies are scarce. This systematic review aims to assess the pathophysiology, clinical characteristics, and outcomes of RDEB-cSCCs, with a focus on results and mechanisms of recent immunotherapies and anti-EGFR (...)

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Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa.
Paller AS et al.

Paller AS et al.
Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa.
J Dermatolog Treat. 2024 Dec , 35, (1):2350232.


Dystrophic epidermolysis bullosa (DEB), a rare genetic skin disease caused by loss-of-function mutations in , the gene encoding type VII collagen (COL7), is characterized by skin blistering, scarring, and extracutaneous manifestations that markedly reduce patient quality-of-life. Beremagene geperpavec-svdt ('B-VEC') is a gene therapy employing a non-integrating, replication-defective herpes simplex virus type 1 (HSV-1)-based vector encoding two copies of full-length human to restore COL7 (...)

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Xeroderma Pigmentosum


DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
Hozhabrpour A et al.

Hozhabrpour A et al.
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
DNA Repair (Amst). 2024 Apr , 136:103633.


Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq). The interpretations of the genomic results were (...)

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Impression cytology of ocular surface in xeroderma pigmentosum.
Marcos AAA et al.

Marcos AAA et al.
Impression cytology of ocular surface in xeroderma pigmentosum.
Arq Bras Oftalmol. 2024 , 87, (4):e2023.


To describe cellular alterations detected by impression cytology of the ocular surface in patients with xeroderma pigmentosum. The secondary objective was to assess the reliability of impression cytology in diagnosing ocular surface squamous neoplasia.

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Evidence for persistent UV-induced DNA damage and altered DNA damage response in xeroderma pigmentosa patient corneas.
Akepogu J et al.

Akepogu J et al.
Evidence for persistent UV-induced DNA damage and altered DNA damage response in xeroderma pigmentosa patient corneas.
Exp Eye Res. 2024 Jun , 243:109901.


Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by injury to the ocular surface due to exposure to ultraviolet (UV) radiation. UV-induced damage in the cells leads to the formation of cyclobutane pyrimidine dimers (CPDs) and 6-4 pyrimidine-pyrimidone photoproducts that are repaired by the NER (Nucleotide Excision Repair) pathway. Mutations in the genes coding for NER proteins, as reported in XP patients, would lead to sub-optimal damage repair resulting in clinical signs (...)

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Kératodermies palmo-plantaires


Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB et al.

Gram SB et al.
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Clin Genet. 2024 May , 105, (5):561-566.


Palmoplantar keratoderma (PPK) is a heterogeneous group of rare skin diseases characterized by hyperkeratosis on the palms or soles. The subtype isolated punctate PPK is caused by heterozygous variants in AAGAB. We investigated if the variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate PPK in the Region of Southern Denmark represented a founder variant and estimated the age to the most recent common ancestor. We performed haplotype analysis on samples from 20 patients diagnosed (...)

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Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.
Gram SB et al.

Gram SB et al.
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.
J Dermatol. 2024 May , 51, (5):e143-e144.

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Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.

Zhang J et al.
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Mol Med Rep. 2024 Jul , 30, (1).


Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome (...)

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Neurofibromatoses


Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.
Guo YX et al.

Guo YX et al.
Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.
JAMA Dermatol. 2024 Mar 01, 160, (3):366-368.

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Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A et al.

Medina Lemus A et al.
Epilepsy in Legius syndrome: Coincidence or causation?
Am J Med Genet A. 2024 Jun , 194, (6):e63547.


Legius syndrome is a rare genetic disorder, caused by heterozygous SPRED1 pathogenic variants, which shares phenotypic features with neurofibromatosis type 1 (NF1). Both conditions typically involve café-au-lait macules, axillary freckling, and macrocephaly; however, patients with NF1 are also at risk for tumors, such as optic nerve gliomas and neurofibromas. Seizure risk is known to be elevated in NF1, but there has been little study of this aspect of Legius syndrome. The reported epilepsy (...)

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Neurofibroma: Case Series with Clinical Features and Recommendations.
Khatri N et al.

Khatri N et al.
Neurofibroma: Case Series with Clinical Features and Recommendations.
Acta Neurol Taiwan. 2024 Sep 30, 33(3):112-121.


Neurofibroma is an autosomal benign disorder. It can be localized, diffuse or invasive like plexiform neurofibroma that involves the nerves, muscle, tissues, skeleton. It represents itself as a destructive variant of neurofibroma, mostly present as orbital or periorbital neurofibroma or may be associated with autosomal dominant disease. Clinical diagnosis of neurofibromatosis (NF) according to National Institutes of Health (NIH) criteria should have more than two of the seven features (...)

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Dysplasie Ectodermique


Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report.
Song Y et al.

Song Y et al.
Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report.
BMC Pediatr. 2024 May 07, 24, (1):314.


Aplasia cutis congenita (ACC) is a congenital disorder that can be classified into nine types, with Type I ACC being the most common. Type V ACC associated with fetus papyraceus is a rare subtype of ACC. We report the case of a Type V ACC in a male newborn with extensive abdominal skin defects. The patient received conservative treatment using hydrogel foam and silicone foam dressings. Approximately five weeks later, the patient was discharged when more than 60% of the skin had completed (...)

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Hypohidrotic Ectodermal Dysplasia: Classical Clinical Features.
Gupta P et al.

Gupta P et al.
Hypohidrotic Ectodermal Dysplasia: Classical Clinical Features.
Indian Pediatr. 2024 May 15, 61, (5):503.

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Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome.
Freitas LF et al.

Freitas LF et al.
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome.
Neuropediatrics. 2024 Jun , 55, (3):213-214.

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Cutis laxa


Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Zhang Y et al.

Zhang Y et al.
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Mol Biol Rep. 2024 Apr 10, 51, (1):498.


Cutis laxa is a connective tissue disease caused by abnormal synthesis or secretion of skin elastic fibers, leading to skin flabby and saggy in various body parts. It can be divided into congenital cutis laxa and acquired cutis laxa, and inherited cutis laxa syndromes is more common in clinic.

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NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.
Abdullah M et al.

Abdullah M et al.
NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.
Retin Cases Brief Rep. 2024 May 01, 18, (3):400-403.


To report a case of autosomal recessive cutis laxa type 2A with novel retinal findings.

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A Growth-Restricted Neonate with Abnormal Facies and Lax Skin.
Jyothi S et al.

Jyothi S et al.
A Growth-Restricted Neonate with Abnormal Facies and Lax Skin.
Neoreviews. 2024 May 01, 25, (5):e286-e289.

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Ehlers-Danlos


Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.
Xu K et al.

Xu K et al.
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.
Orphanet J Rare Dis. 2024 May 13, 19, (1):194.


The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS with hallmark features including joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical manifestations and their severity differ among the subtypes, encompassing recurrent joint dislocations, scoliosis, arterial aneurysm and dissection, and organ rupture. (...)

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Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines.
Pezaro S et al.

Pezaro S et al.
Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines.
PLoS One. 2024 , 19, (5):e0302401.


To co-create expert guidelines for the management of pregnancy, birth, and postpartum recovery in the context of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD).

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Airway Complications in a Patient With Ehlers-Danlos Syndrome: A Case Report.
Meeusen V et al.

Meeusen V et al.
Airway Complications in a Patient With Ehlers-Danlos Syndrome: A Case Report.
AANA J. 2024 Jun , 92, (3):189-195.


A female patient, known to have hypermobile Ehlers-Danlos syndrome (hEDS), underwent several elective gastroscopies under sedation in different hospitals. Except for a single incident of mild laryngospasm during emergence, all procedures were uneventful. On that occasion, following the procedure in the postanesthesia care unit, the patient suffered severe airway obstruction, and standard airway rescue techniques exacerbated adequate ventilation. After the removal of all stimuli and (...)

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Syndromes de prolifération tissulaire et mosaïcisme


Experimental approaches to assess melanocytes mosaicism in segmental vitiligo.
Dellatorre G et al.

Dellatorre G et al.
Experimental approaches to assess melanocytes mosaicism in segmental vitiligo.
An Bras Dermatol. 2023 , 98, (2):216-220.


Vitiligo is an autoimmune disease of the skin that results in localized or disseminated white macules. One common feature of several existing classification protocols is the distribution of the disease into two main subtypes, non-segmental vitiligo (NSV) and segmental vitiligo (SV). SV is characterized by depigmentation spreading within one or more skin segments while NSV is widespread. Several clinical-epidemiological observations suggest that SV has distinct autoimmune pathophysiology (...)

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Injury prevents Ras mutant cell expansion in mosaic skin.
Gallini S et al.

Gallini S et al.
Injury prevents Ras mutant cell expansion in mosaic skin.
Nature. 2023 Jul , 619, (7968):167-175.


Healthy skin is a mosaic of wild-type and mutant clones. Although injury can cooperate with mutated Ras family proteins to promote tumorigenesis, the consequences in genetically mosaic skin are unknown. Here we show that after injury, wild-type cells suppress aberrant growth induced by oncogenic Ras. Hras and Kras cells outcompete wild-type cells in uninjured, mosaic tissue but their expansion is prevented after injury owing to an increase in the fraction of proliferating wild-type cells. (...)

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Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
Cavaillé M et al.

Cavaillé M et al.
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC Med Genomics. 2023 Jul 13, 16, (1):166.


PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous features, hamartomatous tumors, and cancers. Mosaicism has been found in a few cases of patients with de novo PHTS, identified from blood samples. We report a PHTS patient with no variant identified from blood sample. Constitutional PTEN mosaicism was detected (...)

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Incontinentia Pigmenti


An atypical case of incontinentia pigmenti with a hypomorphic variant.
Guo Y et al.

Guo Y et al.
An atypical case of incontinentia pigmenti with a hypomorphic variant.
Pediatr Dermatol. 2024 , 41, (2):351-353.


Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia (...)

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Incontinentia Pigmenti.
Zhang LW et al.

Zhang LW et al.
Incontinentia Pigmenti.
J Cutan Med Surg. 2024 , 28, (2):210.

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Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.
Yin L et al.

Yin L et al.
Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.
BMC Neurosci. 2024 May 21, 25, (1):25.


Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatment strategies are available for the inflammatory phase.

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