research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
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810-840 / 1000+ results research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Central centrifugal cicatricial alopecia
CCCA is a common, progressive hair loss condition that may not always be linked to hair care practices and requires a biopsy for diagnosis.
research Beyond Coincidence in Neurofibromatosis Type 1: Becker Nevus Adjacent to Plexiform Neurofibroma with Brachial Plexus Involvement and Integrated Mechanistic Illustration
A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
research Insulin Resistance, Acanthosis Nigricans, and Polycystic Ovaries Associated with a Circulating Inhibitor of Postbinding Insulin Action
A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Sertoliform endometrioid carcinoma of the right ovary
Sertoliform endometrioid carcinoma of the ovary, though rare, has a good prognosis when treated early.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research 863 Central centrifugal cicatricial alopecia gene expression analysis revealed cholesterol, fatty acid, and mast cell pathways
Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Nε-(carboxymethyl) lysine (CML) inhibits hair follicle formation by suppressing hair bulb condensation
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Basal Cell Carcinoma With Matrical Differentiation: Expression of .-catenin and Osteopontin
Basal cell carcinoma with matrical differentiation is a rare type linked to hair follicles, with .-catenin important for its development.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research A four year retrospective study of the prevalence of canine follicular tumours in Croatia.
Most canine follicular tumors in Croatia are benign, but some can be malignant, so testing is important.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research PILOMATRIXOMA OF FACE PRESENTING AS PAROTID SWELLING
A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.
research Primary cicatricial alopecia associated with systemic indolent mastocytosis
Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.