research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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research Analogs of human genetic skin disease in domesticated animals
This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
research Lichen planus pigmentosus and its variants: review and update
This narrative review discusses lichen planus pigmentosus, including its variations, associated triggers, and management strategies, but reports no new clinical results.
research Distinct mechanisms underlie pattern formation in the skin and skin appendages
This article discusses various skin pattern formations, their molecular mechanisms, and highlights the need for further understanding to connect molecular biology with organism phenotypes, without providing new clinical findings.
research Quoi de neuf en dermatologie pédiatrique ?
This article reviews key developments in pediatric dermatology for 2017, including consensus recommendations, novel genetic findings, and treatment insights for conditions like psoriasis and vascular malformations, without providing new clinical trial results.
research Viewpoint 1
This article discusses various biological mechanisms that influence the formation of skin lesion patterns, emphasizing the need for more systematic research to improve understanding and treatment of skin disorders, but reports no new empirical findings.
research Phylloid terminal hair nevus: A unique clinical entity
This case report describes a unique instance of an otherwise healthy infant with phylloid terminal hair nevus, a form of hypomelanosis without extracutaneous abnormalities.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
research Focal Scalp Hair Heterochromia in an Infant
This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
research Pigmentary mosaicism: An update
This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
research Segmental cherry angiomas associated with extragenital lichen sclerosus: A report of two cases
Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
research Genetic Defects of Female Sexual Differentiation
This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
research Studying the genetic predisposing factors in the pathogenesis of acne vulgaris
This review discusses findings from genetic studies on acne, highlighting progress in understanding its molecular pathogenesis without reporting new clinical results.
research What does acne genetics teach us about disease pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research The genetics of hair shaft disorders
This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
research Clinical and molecular genetic studies in hereditary hair loss
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
This study highlights a case of a 12-day-old female with Bloch-Sulzberger Syndrome, underscoring the need for early diagnosis based on skin symptoms to manage potential complications in other organs effectively.