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Recent publications on genodermatoses

Ichthyoses


Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
Terrinoni A et al.

Terrinoni A et al.
Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
PLoS ONE. 2018 , 13, (4):e0195792.


Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in (...)

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Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.
Abboud JJ et al.

Abboud JJ et al.
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.
Ophthalmic Plast Reconstr Surg. , 34, (3):e76-e77.


Ichthyosis is a cutaneous disorder characterized by excessive amounts of dry thickened skin surface scales. Ocular manifestations of ichthyosis include cicatricial ectropion, which may cause exposure keratoconjunctivitis and rarely corneal perforation. Topical emollients, anti-inflammatory ointments, and systemic retinoids have been used to control the disease process, while surgical correction with donor graft has been reserved for severe cases involving corneal exposure. The authors (...)

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Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.
Bubanale SC et al.

Bubanale SC et al.
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.
Indian J Ophthalmol. 2018 06 , 66, (6):856-858.


Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass (...)

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Inherited Epidermolysis Bullosa


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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A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
Michalak A et al.

Michalak A et al.
A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
BMC Gastroenterol. 2018 Apr 13, 18, (1):47.


Epidermolysis bullosa (EB) constitutes a heterogenous group of rare multisystem genetically transmitted disorders comprising several blistering muco-cutaneous diseases with a monogenic basis and either autosomal dominant or autosomal recessive mode of inheritance. EB manifestation is not only limited to the skin. Systemic signs might involve the nose, ear, eye, genitourinary tract and upper gastrointestinal tract. The presence of particular symptoms is directly determined by a type of (...)

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Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.
Alkhalifah A et al.

Alkhalifah A et al.
Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.
Pediatr Dermatol. 2018 May , 35, (3):e193-e195.


Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24-related epidermolysis (...)

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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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Palmoplantar Keratoderma


SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
Bergqvist C et al.

Bergqvist C et al.
SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
Int. J. Dermatol.. 2018 Feb , 57, (2):162-170.


Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients.

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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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Neurofibromatosis


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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Ectodermal Dysplasia


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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Haberland Syndrome Associated With Calvarial Exostosis.
Alam MS et al.

Alam MS et al.
Haberland Syndrome Associated With Calvarial Exostosis.
Ophthalmic Plast Reconstr Surg. , 34, (4):e141.

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Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome.
Shoji MK et al.

Shoji MK et al.
Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome.
Ophthalmic Plast Reconstr Surg. , 34, (4):e133-e136.


A female neonate presented with a pedunculated left lateral epibulbar mass protruding through the eyelids that originated from the temporal cornea and superolateral bulbar and palpebral conjunctiva. She had a cleft in the ipsilateral central upper eyelid with horizontal kink of the tarsus lateral to the cleft and focal patches of alopecia on the scalp. Histopathology of the epibulbar mass revealed conjunctival epithelium with underlying connective tissue, cartilage, bone, adipose, and (...)

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Cutis laxa


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 implications of de Barsy syndrome.
Warner LL et al.

Warner LL et al.
Clinical implications of de Barsy syndrome.
Paediatr Anaesth. 2018 Jan , 28, (1):59-62.


De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability.

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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


Catastrophic multiple arterial dissections revealing concomitant polyarteritis nodosa and vascular Elhers-Danlos syndrome.
Caudrelier L et al.

Caudrelier L et al.
Catastrophic multiple arterial dissections revealing concomitant polyarteritis nodosa and vascular Elhers-Danlos syndrome.
Clin. Exp. Rheumatol.. , 36 Suppl 111, (2):174-175.

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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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Overgrowth syndrome and Mosaicism


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


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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Cardiopulmonary anomalies in incontinentia pigmenti patients.
Onnis G et al.

Onnis G et al.
Cardiopulmonary anomalies in incontinentia pigmenti patients.
Int. J. Dermatol.. 2018 Jan , 57, (1):40-45.


Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may (...)

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