Publications récentes sur les génodermatoses

Uyar İ et al.
Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.
Ulus Travma Acil Cerrahi Derg. 2023 May , 29, (5):638-640.

Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the (...)

Moltrasio C et al.
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in Gene.
Genes (Basel). 2023 May 14, 14, (5).

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The (NM_006846.4): c.1258A>G polymorphism (rs2303067) shows a significant association with atopy and atopic dermatitis (AD), which share several clinical features with NS. We describe an NS patient, initially misdiagnosed with severe (...)

Fukaura R et al.
Ichthyotic skin lesions of Conradi-Hünermann-Happle syndrome successfully treated with dupilumab.
J Eur Acad Dermatol Venereol. 2023 Jun , 37, (6):e732-e734.

Tartaglia G et al.
Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa.
Biomolecules. 2023 Apr 25, 13, (5).

Junctional epidermolysis bullosa (JEB) patients experience skin and epithelial fragility due to a pathological deficiency in genes associated with epidermal adhesion. Disease severity ranges from post-natal lethality to localized skin involvement with persistent blistering followed by granulation tissue formation and atrophic scarring. We evaluated the potential of utilizing Trametinib, an MEK inhibitor previously shown to target fibrosis, with and without the documented EB-anti-fibrotic (...)

De Gregorio C et al.
Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions.
Biol Res. 2023 May 10, 56, (1):23.

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare inherited skin disease caused by variants in the COL7A1 gene, coding for type VII collagen (C7), an important component of anchoring fibrils in the basement membrane of the epidermis. RDEB patients suffer from skin fragility starting with blister formation and evolving into chronic wounds, inflammation and skin fibrosis, with a high risk of developing aggressive skin carcinomas. Restricted therapeutic options are limited by the (...)

Vincent C et al.
Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa.
Stem Cell Res. 2023 Jun , 69:103104.

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic disease responsible for blistering of the skin and mucosa caused by a wide variety of mutations in COL7A1 encoding type VII collagen. We have generated Induced Pluripotent Stem Cells (iPSCs) from two RDEB patients' fibroblasts harboring homozygous recurrent mutations in COL7A1. Their pluripotent state was confirmed by gene and protein expression of stem cell markers OCT4, SOX2, TRA1/60 and SSEA4. Embryoid body (...)

Darfaoui L et al.
[AML with myelodysplasia-related changes complicating xeroderma pigmentosum].
Ann Biol Clin (Paris). 2023 May 16, 81, (2):219-221.

Mohapatra D et al.
Lethal toxicity of anticancer drugs in xeroderma pigmentosum.
Pediatr Blood Cancer. 2023 Jun , 70, (6):e30223.

Hassan HS et al.
Xeroderma pigmentosum: An experience from Zanzibar.
Int J Dermatol. 2023 Jun , 62, (6):e335-e337.

Decombeix AL et al.
Fossil evidence of tylosis formation in Late Devonian plants.
Nat Plants. 2023 May , 9, (5):695-698.

Tyloses are swellings of parenchyma cells into adjacent water-conducting cells that develop in vascular plants as part of heartwood formation or specifically in response to embolism and pathogen infection. Here we document tyloses in Late Devonian (approximately 360 Myr ago) Callixylon wood. This discovery suggests that some of the earliest woody trees were already capable of protecting their vascular system by occluding individual conducting (...)

Pantou MP et al.
A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.
BMC Med Genomics. 2023 May 04, 16, (1):95.

Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype.

Latour-Álvarez I et al.
Novel compound heterozygous mutation in CTSC gene with response to ustekinumab.
J Eur Acad Dermatol Venereol. 2023 Jun , 37, (6):e798-e800.

García-Martínez FJ et al.
[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children.
Actas Dermosifiliogr. 2023 Mar , 114, (3):T187-T193.

Diagnosis of neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of considering café-au-lait macules and skinfold freckling as a single diagnostic criterion.

Yang L et al.
Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.
BMC Med Genomics. 2023 Apr 24, 16, (1):85.

Neurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots, lisch nodules in the iris, even tumors in the peripheral nervous system or fibromatous skin. In this study, a Chinese young woman who suffered from NF1 disease with first-trimester spontaneous abortion was recruited. Analysis for whole exome sequencing (WES), Sanger sequencing, short tandem repeat (STR), and co-segregation was carried out. As (...)

Pagani K et al.
Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center.
Pediatr Dermatol. 2023 , 40, (3):446-451.

Pigmentary mosaicism (PM) is a descriptive term encompassing a range of hyper- and hypo-pigmented phenotypes in various patterns. Information from the neurology literature initially noted neurological abnormalities (NA) in up to 90% of children with PM. The dermatology literature suggests lower associated rates (15%-30%) of NA. Variations in terminology, inclusion criteria, and small population sizes makes interpreting existing PM literature complicated. We aimed to assess rates of NA in (...)

Labunski A et al.
Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices.
Eye Contact Lens. 2023 Jun 01, 49, (6):262-265.

This case report highlights the unique application and long-term benefits of customized scleral devices in a patient with ocular complications from ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome over the span of 10 years. A 13-year-old girl with a history of EEC syndrome and ocular manifestations, including severe bilateral dry eye disease, corneal neovascularization and scarring, progressive fibrous pannus, and limbal stem cell deficiency, was examined and fitted with scleral (...)

Di Stasi M et al.
Congenital melanocytic naevus syndrome and Dandy-Walker malformation - a mistaken association: case report and literature review.
Neuroradiology. 2023 Jun , 65, (6):1077-1086.

Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy-Walker malformation (DWM) has been described in the literature, but recent advances in imaging and (...)

Nieto-Benito LM et al.
A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.
Mol Biol Rep. 2023 Jun , 50, (6):5519-5521.

Adams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD).

Recio-Monescillo M et al.
Papillary dermal elastolysis histopathology mimicking folliculotropic mycosis fungoides.
J Cutan Pathol. 2023 May , 50, (5):430-433.

Papillary dermal elastolysis is a rare acquired disease of the elastic tissue that mainly affects elderly women with a clinical presentation of small firm papules in the neck, the supraclavicular areas and the upper back. Histopathologically, it is characteristic to find a complete or almost complete absence of elastic fibers in the papillary dermis with stains such as orcein or Verhoeff-Van Gieson. We present the case of an adult female patient presenting a clinical picture of years of (...)

O'Connell KA et al.
Clinical features in adults with acquired cutis laxa: a retrospective review.
Br J Dermatol. 2023 May 24, 188, (6):800-816.

Acquired cutis laxa (ACL) is a very rare dermatological condition with numerous proposed aetiologies. Herein, we report on 10 adult patients with ACL, three of which were found to have genetic mutations suggesting a genetic predisposition for the development of ACL following exposure to an environmental insult. Four patients were presumed to develop ACL in association with medication exposure. Overall, if a case of potential ACL arises, providers should carefully review patient history and (...)

Velayutham R et al.
Supravalvular aortic stenosis with bicuspid aortic valve in a patient with cutis laxa syndrome.
QJM. 2023 May 27, 116, (5):396-397.

Pietri-Toro JM et al.
Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami.
Am J Med Genet A. 2023 Jun , 191, (6):1502-1507.

Cardiovascular system involvements have been frequently reported in hypermobile Ehlers-Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients. We conducted a retrospective review of cardiac involvement in patients diagnosed with hEDS based on the 2017 International diagnostic (...)

Clark NL et al.
The biopsychosocial impact of hypermobility spectrum disorders in adults: a scoping review.
Rheumatol Int. 2023 Jun , 43, (6):985-1014.

Joint hypermobility affects approximately 30% of the United Kingdom (UK) population, characterised by the ability to move joints beyond the physiological limits. Associated conditions include Ehlers-Danlos syndrome and hypermobility spectrum disorders, affecting individuals across physical, psychological and social levels detrimentally impacting their health and wellbeing. The scoping review aims to describe the known biopsychosocial impact of joint hypermobility conditions in adults over (...)

Alrifai N et al.
Pregnancy and Fetal Outcomes in Patients With Ehlers-Danlos Syndrome: A Nationally Representative Analysis.
Curr Probl Cardiol. 2023 Jul , 48, (7):101634.

Cardiovascular complications occur frequently in Ehlers-Danlos syndrome (EDS). Pregnancy outcomes, however, are not well established in patients with EDS. We conducted a population-based, retrospective, cohort study using the national inpatient sample to compare pregnancy and fetal outcomes in patients with and without EDS, delivering between 2016 and 2019. Regression analysis was performed and adjusted for maternal age and race to compare both groups. Of the total 5,887,050 births in our (...)

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 (...)

Happle R et al.
Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis.
Am J Med Genet A. 2023 Mar , 191, (3):899-901.

Sarcoidosis is a chronic granulomatous disorder affecting the lungs, skin, and many other organs. Twin studies suggest that genetic factors account, to a large degree, for the etiology of the disorder. Hence, theoretically, we could postulate that the phenomenon of superimposed mosaicism in the form of a pronounced segmental involvement, overlaying the disseminated non-segmental lesions, should also occur in sarcoidosis. Indeed, one case suggesting superimposed mosaicism in cutaneous (...)

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 (...)

Belenje A et al.
Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle.
BMJ Case Rep. 2023 Feb 14, 16, (2).

We report for the first time a child with incontinentia pigmenti presenting with acute-onset rhegmatogenous retinal detachment in association with pre-existing tractional retinal detachment. Due to the combined nature of this detachment, complex vector forces acting on the retina makes this a difficult to treat situation. A single surgery of modified scleral imbrication with scleral buckle was effective in reattaching the retina by providing a very high buckle indent to accommodate all the (...)

Peng J et al.
Expression Levels of Aqueous Humor Cytokines in Pediatric Patients With Incontinentia Pigmenti.
Asia Pac J Ophthalmol (Phila). , 12, (2):264-265.

Herzum A et al.
Neonatal incontinentia pigmenti.
Ital J Dermatol Venerol. 2023 Apr , 158, (2):164-166.