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Recent publications on genodermatoses

Ichthyoses


Topical N-acetylcysteine in ichthyosis: Experience in 18 patients.
Kaplan L et al.

Kaplan L et al.
Topical N-acetylcysteine in ichthyosis: Experience in 18 patients.
Pediatr Dermatol. 2018 Jul , 35, (4):528-530.


The treatment options for ichthyosis are limited. Successful treatment with topical N-acetylcysteine has been reported in a small number of patients, with generally good results. We report the finding of a retrospective chart review of 18 patients treated with N-acetylcysteine. Although topical N-acetylcysteine is an effective therapy for some patients with ichthyosis, problems with irritation, objectionable odor, and compounding costs limit its (...)

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Xerosis cutis and associated co-factors in women with prurigo nodularis.
Akarsu S et al.

Akarsu S et al.
Xerosis cutis and associated co-factors in women with prurigo nodularis.
An Bras Dermatol. , 93, (5):671-679.


Current data regarding the associated factors of prurigo nodularis are still uncertain, except for atopic predisposition.

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Vohwinkel syndrome: ichthyosiform variant in a family.
Reinehr CPH et al.

Reinehr CPH et al.
Vohwinkel syndrome: ichthyosiform variant in a family.
An Bras Dermatol. , 93, (5):723-725.


Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome (...)

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Inherited Epidermolysis Bullosa


Gentamicin induces nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.
Lincoln V et al.

Lincoln V et al.
Gentamicin induces nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.
Proc. Natl. Acad. Sci. U.S.A.. 2018 07 10, 115, (28):E6536-E6545.


Herlitz junctional epidermolysis bullosa (H-JEB) is an incurable, devastating, and mostly fatal inherited skin disease for which there is only supportive care. H-JEB is caused by loss-of-function mutations in , , or , leading to complete loss of laminin 332, the major component of anchoring filaments, which mediate epidermal-dermal adherence. (laminin β3) mutations account for 80% of patients with H-JEB, and ∼95% of H-JEB-associated mutations are nonsense mutations leading to premature (...)

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Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.
Al-Thawabieh W et al.

Al-Thawabieh W et al.
Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.
J Pediatr Ophthalmol Strabismus. 2018 Aug 29, 55:e26-e29.


Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa simplex associated with muscular dystrophy, 3 demonstrated ptosis, ophthalmoplegia, or both. Ptosis and ophthalmoplegia may occur early in epidermolysis bullosa simplex associated with muscular dystrophy and aid in diagnosis. [J Pediatr Ophthalmol Strabismus. (...)

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Clinical algorithm to manage anemia in epidermolysis bullosa.
Simpson B et al.

Simpson B et al.
Clinical algorithm to manage anemia in epidermolysis bullosa.
Pediatr Dermatol. 2018 Sep , 35, (5):e319-e320.


Epidermolysis bullosa is a group of rare genetic disorders with multiple organ system involvement. In one severe form, recessive dystrophic epidermolysis bullosa, chronic anemia is common. This report outlines the multifactorial nature of anemia in recessive dystrophic epidermolysis bullosa and presents a practical clinical algorithm based on expert consensus for the diagnosis and treatment of anemia in recessive dystrophic epidermolysis (...)

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Xeroderma Pigmentosum


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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Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
Espi P et al.

Espi P et al.
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
J Eur Acad Dermatol Venereol. 2018 May , 32, (5):832-839.


Little is known about xeroderma pigmentosum (XP) in Himalayan countries.

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Palmoplantar Keratoderma


Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.

Calvanese L et al.
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Int J Mol Sci. 2018 May 25, 19, (6).


Aquaporins (AQPs) are among the best structural-characterized membrane proteins, fulfilling the role of allowing water flux across cellular membranes. Thus far, 34 single amino acid polymorphisms have been reported in HUMSAVAR for human aquaporins as disease-related. They affect AQP2, AQP5 and AQP8, where they are associated with nephrogenic diabetes insipidus, keratoderma and colorectal cancer, respectively. For half of these mutations, although they are mostly experimentally characterized (...)

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Vohwinkel syndrome: ichthyosiform variant in a family.
Reinehr CPH et al.

Reinehr CPH et al.
Vohwinkel syndrome: ichthyosiform variant in a family.
An Bras Dermatol. , 93, (5):723-725.


Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome (...)

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Papillon-Lefèvre syndrome.
Silva TS et al.

Silva TS et al.
Papillon-Lefèvre syndrome.
An Bras Dermatol. , 93, (5):771-772.

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Neurofibromatosis


Clinical Characteristics of the Halo Phenomenon in Infants with Neurofibromatosis 1: A Case Series.
Koga M et al.

Koga M et al.
Clinical Characteristics of the Halo Phenomenon in Infants with Neurofibromatosis 1: A Case Series.
Acta Derm. Venereol.. 2018 01 12, 98, (1):153-154.

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Pruritus in neurofibromatosis type 1.
Miraglia E et al.

Miraglia E et al.
Pruritus in neurofibromatosis type 1.
G Ital Dermatol Venereol. 2018 02 , 153, (1):120-122.

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Use of ultrasound-guided supraclavicular brachial plexus block as an anesthesia technique in a patient with neurofibromatosis type 1: A case report.
Şalvız EA et al.

Şalvız EA et al.
Use of ultrasound-guided supraclavicular brachial plexus block as an anesthesia technique in a patient with neurofibromatosis type 1: A case report.
Agri. 2018 Apr , 30, (2):93-96.


Neurofibromatosis type 1 is an autosomal dominant condition characterized by cutaneous and/or plexiform neurofibromas and hyperpigmented café-au-lait spots. It affects multiple endocrine and visceral organs and can be associated with several difficulties such as potential airway (ventilation/intubation) problems, abnormal spinal anatomy, and peripheral neurofibromas. Therefore, anesthesia technique selection becomes more of an issue in terms of avoiding complications and decreasing morbidity (...)

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Ectodermal Dysplasia


A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report.
Xu S et al.

Xu S et al.
A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report.
Medicine (Baltimore). 2018 Aug , 97, (34):e12012.


Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA.

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Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.
Valdivielso-Ramos M et al.

Valdivielso-Ramos M et al.
Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.
Pediatr Dermatol. 2018 Sep , 35, (5):622-627.


Infantile hemangiomas with minimal or arrested growth are vascular tumors with a proliferative component involving < 25% of their total surface area. They are commonly described as localized lesions and are mainly located on the lower body. Little has been described about segmental forms on the face and their associations with PHACE syndrome.

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Demographical Profile and Spectrum of Multiple Malignancies in Children and Adults with Neurocutaneous Disorders.
Marjanska A et al.

Marjanska A et al.
Demographical Profile and Spectrum of Multiple Malignancies in Children and Adults with Neurocutaneous Disorders.
Anticancer Res.. 2018 Sep , 38, (9):5453-5457.


Neurocutaneous disorders, also referred as phacomatoses, are congenital disorders manifesting at different ages with central nervous system and cutaneous abnormalities. Analysis of the demographic and clinical profile of patients with phacomatoses in the context of the incidence and spectrum of malignancy.

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Cutis laxa


[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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Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.
Jewell R et al.

Jewell R et al.
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.
Ultrastruct Pathol. , 42, (2):91-96.


Geroderma osteodysplasticum (GO) has clinical and histological features that overlap with other causes of wrinkly skin. Here we present the case of a child diagnosed with GO following exome sequencing of a panel of genes covering the wide differential diagnosis. The histological features of the overlapping conditions are presented, highlighting the utility of panel testing for conditions of this type. This is relevant to many genetic conditions and can influence ongoing management as (...)

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Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients.
Golisch KB et al.

Golisch KB et al.
Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients.
Am J Dermatopathol. 2018 Jun , 40, (6):433-437.


Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. In nearly 50% of cases, erythematous plaques present before the onset of cutis laxa. Separately, urticarial vasculitis and systemic lupus erythematosus have been (...)

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Ehlers-Danlos


Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin.
Kiss N et al.

Kiss N et al.
Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin.
Arch. Dermatol. Res.. 2018 Jul , 310, (5):463-473.


Ehlers-Danlos syndrome (EDS) is the name for a heterogenous group of rare genetic connective tissue disorders with an overall incidence of 1 in 5000. The histological characteristics of EDS have been previously described in detail in the late 1970s and early 1980s. Since that time, the classification of EDS has undergone significant changes, yet the description of the histological features of collagen morphology in different EDS subtypes has endured the test of time. Nonlinear microscopy (...)

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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Gistelinck C et al.

Gistelinck C et al.
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Proc. Natl. Acad. Sci. U.S.A.. 2018 08 21, 115, (34):E8037-E8046.


The type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis imperfecta (OI) and the Ehlers-Danlos syndrome (EDS). These disorders present with a broad disease spectrum and large clinical variability of which the underlying genetic basis is still poorly understood. In this study, we systematically analyzed skeletal phenotypes in a large set of zebrafish, (...)

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Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.
Koitabashi N et al.

Koitabashi N et al.
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.
Int Heart J. 2018 Sep 26, 59, (5):1180-1185.


Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS with peripartum life-threatening arterial rapture diagnosed by next-generation sequencing (NGS) and successfully treated the vascular complications. A 25-year-old female in pregnancy at 34 weeks had sudden and acute pain in the left lower abdomen. (...)

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Overgrowth syndrome and Mosaicism


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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Ichthyosis with Confetti Inherited from a Mosaic Father.
Pallesen KAU et al.

Pallesen KAU et al.
Ichthyosis with Confetti Inherited from a Mosaic Father.
Acta Derm. Venereol.. 2018 01 12, 98, (1):130-131.

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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


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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Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years.
Matsuzaki Y et al.

Matsuzaki Y et al.
Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years.
J. Dermatol.. 2018 Jan , 45, (1):100-103.


Incontinentia pigmenti (IP) is an X-linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)-κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF-κB. Over 80% of female patients (...)

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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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